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Phenotypes
Micromelia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACAN15q26.190.17%gene with protein product155760MSK16, CSPG1, AGC1Abnormality of epiphysis morphology; Abnormality of the nail; Absent nasal bridge; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Brachydactyly; Broad thumb; Delayed skeletal maturation; Developmental stagnation; Exostoses; Flat capital femoral epiphysis; Functional respiratory abnormality; Genu valgum; Genu varum; Growth abnormality; Hoarse voice; Joint laxity; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Mandibular prognathia; Mesomelia; Micromelia; Midface retrusion; Osteoarthritis; Osteochondritis Dissecans; Platyspondyly; Proportionate short stature; Relative macrocephaly; Rhizomelia; Short neck; Short stature; Short thorax; Short thumb; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Waddling gait
ACP519p13.2100%gene with protein product171640Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Autoimmune thrombocytopenia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cellular immunodeficiency; Combined immunodeficiency; Decrease in T cell count; Delayed eruption of teeth; Hyperlordosis; Hypermelanotic macule; Hypopigmented skin patches on arms; Hypothyroidism; Immune dysregulation; Irregular vertebral endplates; Juvenile onset; Kyphoscoliosis; Kyphosis; Large iliac wings; Low-set ears; Lumbar hyperlordosis; Lymphadenopathy; Metaphyseal irregularity; Metaphyseal sclerosis; Micromelia; Narrow nose; Platyspondyly; Pneumonia; Progressive spastic quadriplegia; Purpura; Recurrent otitis media; Recurrent respiratory infections; Recurrent sinusitis; Restrictive ventilatory defect; Rheumatoid arthritis; Rhizomelia; Short stature; Spastic diplegia; Spondylometaphyseal dysplasia; Tubulointerstitial fibrosis; VitiligoAutoimmune Disorders
ACTB7p22.1100%gene with protein product102630Abnormality of metabolism/homeostasis; Achalasia; Agenesis of corpus callosum; Anteverted nares; Aortic valve stenosis; Aphasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Blindness; Cataract; Cerebral cortical hemiatrophy; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coarse facial features; Cryptorchidism; Death in early adulthood; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphagia; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Externally rotated hips; Failure to thrive; Feeding difficulties; Full cheeks; Generalized dystonia; Generalized hypotonia; Global developmental delay; Growth delay; Hamartoma; Heterochromia iridis; High forehead; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypermelanotic macule; Hypertelorism; Hypoplastic scapulae; Immunodeficiency; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint stiffness; Kyphoscoliosis; Kyphosis; Large fontanelles; Lipoatrophy; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Macroglossia; Macrogyria; Mental deterioration; Microcephaly; Micrognathia; Micromelia; Micropenis; Mild global developmental delay; Mutism; Oral cleft; Osteochondrosis; Overfolded helix; Pachygyria; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pointed chin; Polymicrogyria; Postnatal growth retardation; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short columella; Short neck; Short nose; Short stature; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small for gestational age; Specific learning disability; Subcortical cerebral atrophy; Supernumerary nipple; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose
ACTB7p22.1100%gene with protein product102630Abnormality of metabolism/homeostasis; Achalasia; Agenesis of corpus callosum; Anteverted nares; Aortic valve stenosis; Aphasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Blindness; Cataract; Cerebral cortical hemiatrophy; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coarse facial features; Cryptorchidism; Death in early adulthood; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphagia; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Externally rotated hips; Failure to thrive; Feeding difficulties; Full cheeks; Generalized dystonia; Generalized hypotonia; Global developmental delay; Growth delay; Hamartoma; Heterochromia iridis; High forehead; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypermelanotic macule; Hypertelorism; Hypoplastic scapulae; Immunodeficiency; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint stiffness; Kyphoscoliosis; Kyphosis; Large fontanelles; Lipoatrophy; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Macroglossia; Macrogyria; Mental deterioration; Microcephaly; Micrognathia; Micromelia; Micropenis; Mild global developmental delay; Mutism; Oral cleft; Osteochondrosis; Overfolded helix; Pachygyria; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pointed chin; Polymicrogyria; Postnatal growth retardation; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short columella; Short neck; Short nose; Short stature; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small for gestational age; Specific learning disability; Subcortical cerebral atrophy; Supernumerary nipple; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose
ADAMTS25q35.3100%gene with protein product604539Abnormality of primary molar morphology; Abnormality of subcutaneous fat tissue; Aphasia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Blepharochalasis; Blue sclerae; Bruising susceptibility; Coxa valga; Coxa vara; Delayed closure of the anterior fontanelle; Depressed nasal bridge; Downslanted palpebral fissures; Dysphasia; Echolalia; Epicanthus; Esophagitis; Everted lower lip vermilion; Excessive wrinkled skin; Femoral hernia; Fragile skin; Frontal open bite; Gastroesophageal reflux; Gingival bleeding; Gingival hyperkeratosis; Gingival overgrowth; Hiatus hernia; Hip dislocation; Hip dysplasia; Hirsutism; Hyperextensible skin; Hypodontia; Inguinal hernia; Joint hyperflexibility; Joint laxity; Joint stiffness; Micrognathia; Micromelia; Motor delay; Muscular hypotonia; Mutism; Myopia; Osteomalacia; Osteopenia; Osteoporosis; Premature birth; Premature rupture of membranes; Prolonged bleeding time; Recurrent mandibular subluxations; Redundant skin; Retrognathia; Rickets; Scarring; Scoliosis; Severe short stature; Short phalanx of finger; Short stature; Short toe; Soft, doughy skin; Spontaneous neonatal pneumothorax; Thick vermilion border; Thin skin; Umbilical hernia; Wide anterior fontanel
ALPL1p36.12100%gene with protein product171760HOPSAbnormality of the dentition; Abnormality of the foot; Abnormality of the voice; Anemia; Anorexia; Apnea; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bowing of the legs; Carious teeth; Chondrocalcinosis; Constipation; Craniosynostosis; Death in infancy; Decreased calvarial ossification; Disproportionate short-limb short stature; Dolichocephaly; Elevated plasma pyrophosphate; Elevated urine pyrophosphate; Failure to thrive; Fever; Frontal bossing; Generalized hypotonia; Hypercalcemia; Hypercalciuria; Increased susceptibility to fractures; Intracranial hemorrhage; Irritability; Low alkaline phosphatase; Metaphyseal cupping; Micromelia; Myopathy; Nephrocalcinosis; Osteomalacia; Pathologic fracture; Phosphoethanolaminuria; Platyspondyly; Polyhydramnios; Premature loss of permanent teeth; Premature loss of primary teeth; Proptosis; Rachitic rosary; Recurrent fractures; Recurrent respiratory infections; Rickets; Seizures; Short lower limbs; Short ribs; Short stature; Skin dimple over apex of long bone angulation; Stillbirth; Unossified vertebral bodies; Vertebral clefting; Vomiting; Waddling gait; Widely patent fontanelles and sutures
ANTXR24q21.21100%gene with protein product608041Abnormal diaphysis morphology; Abnormality of dental morphology; Abnormality of the adrenal glands; Abnormality of the hair; Abnormality of the skull; Aplasia/Hypoplasia of the skin; Aplasia/Hypoplasia of the thymus; Autosomal recessive inheritance; Brachydactyly; Camptodactyly of finger; Chronic diarrhea; Coarse facial features; Death in infancy; Diarrhea; Failure to thrive; Feeding difficulties; Gingival fibromatosis; Gingival overgrowth; Hyperpigmentation of the skin; Immunodeficiency; Joint stiffness; Lymphedema; Macrocephaly; Micromelia; Muscular hypotonia; Osteolysis; Osteomalacia; Osteopenia; Osteoporosis; Papule; Polycystic ovaries; Progressive; Progressive flexion contractures; Recurrent bacterial infections; Recurrent fractures; Recurrent infections; Severe short stature; Short neck; Short palm; Skin ulcer; Steatorrhea; Subcutaneous nodule; Telangiectasia of the skin; Thickened skin; Urticaria; Variable expressivity
B3GALT61p36.33100%gene with protein product61529111 pairs of ribs; Abnormal bone ossification; Abnormal facial shape; Abnormality of epiphysis morphology; Abnormality of skin pigmentation; Abnormality of the metaphysis; Advanced ossification of carpal bones; Aortic valve stenosis; Arachnodactyly; Atrial septal defect; Atrophic scars; Autosomal recessive inheritance; Bicuspid aortic valve; Blue sclerae; Broad distal phalanx of finger; Cleft palate; Congenital myopia; Coxa valga; Cryptorchidism; Cupped ribs; Cutis laxa; Decreased body weight; Delayed proximal femoral epiphyseal ossification; Dislocated radial head; Ectopia lentis; Elbow dislocation; Epicanthus; Flared iliac wings; Flared metaphysis; Flaring of rib cage; Flat face; Flexion contracture; Fragile skin; Generalized hypotonia; Gingivitis; Global developmental delay; Hallux valgus; High palate; Hip dislocation; Hip subluxation; Hyperextensible skin; Hyperlordosis; Hypoplastic iliac body; Irregular vertebral endplates; Joint hyperflexibility; Joint laxity; Kyphoscoliosis; Kyphosis; Large iliac wings; Lipodystrophy; Long philtrum; Long toe; Long upper lip; Macrocephaly; Malar flattening; Metatarsus adductus; Micrognathia; Micromelia; Midface retrusion; Mitral regurgitation; Muscular hypotonia; Narrow mouth; Osteopenia; Osteoporosis; Oval face; Ovoid vertebral bodies; Palmoplantar cutis gyrata; Paraplegia; Pathologic fracture; Pes planus; Platyspondyly; Progeroid facial appearance; Prominent forehead; Proptosis; Pulmonic stenosis; Radial bowing; Radial head subluxation; Scoliosis; Severe short stature; Short femoral neck; Short foot; Short iliac bones; Short long bone; Short metacarpal; Short nail; Short neck; Short palm; Short stature; Skeletal dysplasia; Skeletal muscle atrophy; Slender long bone; Soft, doughy skin; Sparse and thin eyebrow; Sparse eyelashes; Sparse hair; Sparse scalp hair; Spinal cord compression; Spondyloepimetaphyseal dysplasia; Talipes equinovarus; Telecanthus; Testicular torsion; Thin skin; Ventricular septal defect; Wide nasal bridge
B3GLCT13q12.399.62%gene with protein productFormer name = B3GALTL610308B3GALTLAbnormal cardiac septum morphology; Abnormality of the pulmonary artery; Agenesis of corpus callosum; Agenesis of maxillary lateral incisor; Anterior chamber synechiae; Atrial septal defect; Autosomal recessive inheritance; Biliary tract abnormality; Bilobate gallbladder; Birth length less than 3rd percentile; Brachycephaly; Brachydactyly; Broad neck; Cataract; Cerebral atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Clitoral hypoplasia; Conical incisor; Corneal opacity; Craniosynostosis; Cryptorchidism; Decreased body weight; Decreased fetal movement; Diastasis recti; Disproportionate short-limb short stature; Facial hypertrichosis; Feeding difficulties in infancy; Frontal bossing; Glaucoma; Global developmental delay; Hemivertebrae; Hydrocephalus; Hydronephrosis; Hypertelorism; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Joint laxity; Limited elbow movement; Long philtrum; Macrocephaly; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia, second degree; Myopia; Nystagmus; Pectus excavatum; Pes cavus; Peters anomaly; Polyhydramnios; Postnatal growth retardation; Preauricular pit; Preauricular skin tag; Prominent forehead; Protruding ear; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Retinal coloboma; Rhizomelia; Round face; Scoliosis; Seizures; Short columella; Short foot; Short lingual frenulum; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short toe; Single transverse palmar crease; Square pelvis bone; Stenosis of the external auditory canal; Syndactyly; Thin upper lip vermilion; Toe syndactyly; Umbilical hernia; Upslanted palpebral fissure; Ureteral duplication; Ventricular septal defect; Ventriculomegaly; Webbed neck; Wide anterior fontanel; Wide intermamillary distanceDisorders of Sex Development
BMPR1B4q22.3100%gene with protein product6032482-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the radius; Abnormality of the thumb; Abnormality of the ulna; Abnormality of tibia morphology; Aplasia of the middle phalanges of the toes; Aplasia of the proximal phalanges of the hand; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the 1st metacarpal; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the thumb; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bowing of the long bones; Brachydactyly; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad foot; Broad hallux; Carpal synostosis; Clinodactyly of the 5th finger; Complete duplication of distal phalanx of the thumb; Cone-shaped epiphysis; Delayed speech and language development; Disproportionate short-limb short stature; Fibular aplasia; Fibular hypoplasia; Hallux valgus; Hypergonadotropic hypogonadism; Hypoplasia of the ulna; Hypoplasia of the uterus; Joint stiffness; Limitation of joint mobility; Medially deviated second toe; Micromelia; Narrow nasal bridge; Poor motor coordination; Postaxial hand polydactyly; Primary amenorrhea; Pseudoepiphyses of the 2nd finger; Radial deviation of finger; Radial deviation of the 2nd finger; Sarcoma; Short 2nd finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the thumb; Short femoral neck; Short finger; Short foot; Short hallux; Short metatarsal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short phalanx of finger; Short proximal phalanx of finger; Short proximal phalanx of thumb; Short stature; Short thumb; Short tibia; Short toe; Skeletal dysplasia; Stippling of the epiphysis of the distal phalanx of the thumb; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 5th finger; Type A2 brachydactyly; Type C brachydactyly; Ulnar deviation of finger; Ulnar deviation of the 2nd finger; Widened proximal tibial metaphyses
BMPR1B4q22.3100%gene with protein product6032482-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the radius; Abnormality of the thumb; Abnormality of the ulna; Abnormality of tibia morphology; Aplasia of the middle phalanges of the toes; Aplasia of the proximal phalanges of the hand; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of the 1st metacarpal; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the thumb; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bowing of the long bones; Brachydactyly; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad foot; Broad hallux; Carpal synostosis; Clinodactyly of the 5th finger; Complete duplication of distal phalanx of the thumb; Cone-shaped epiphysis; Delayed speech and language development; Disproportionate short-limb short stature; Fibular aplasia; Fibular hypoplasia; Hallux valgus; Hypergonadotropic hypogonadism; Hypoplasia of the ulna; Hypoplasia of the uterus; Joint stiffness; Limitation of joint mobility; Medially deviated second toe; Micromelia; Narrow nasal bridge; Poor motor coordination; Postaxial hand polydactyly; Primary amenorrhea; Pseudoepiphyses of the 2nd finger; Radial deviation of finger; Radial deviation of the 2nd finger; Sarcoma; Short 2nd finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the thumb; Short femoral neck; Short finger; Short foot; Short hallux; Short metatarsal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short phalanx of finger; Short proximal phalanx of finger; Short proximal phalanx of thumb; Short stature; Short thumb; Short tibia; Short toe; Skeletal dysplasia; Stippling of the epiphysis of the distal phalanx of the thumb; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 5th finger; Type A2 brachydactyly; Type C brachydactyly; Ulnar deviation of finger; Ulnar deviation of the 2nd finger; Widened proximal tibial metaphyses
CCDC819q13.32100%gene with protein product614145Abnormality of dental enamel; Abnormality of the elbow; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Broad forehead; Bulbous nose; Delayed eruption of teeth; Delayed skeletal maturation; Dolichocephaly; Enlarged thorax; Everted lower lip vermilion; Frontal bossing; Hip dysplasia; Horizontal ribs; Hyperlordosis; Hypoplasia of the ulna; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Increased vertebral height; Intrauterine growth retardation; Joint hyperflexibility; Long philtrum; Malar flattening; Micromelia; Midface retrusion; Pointed chin; Protruding ear; Rocker bottom foot; Scapular winging; Short neck; Short stature; Short thorax; Slender long bone; Small for gestational age; Thick eyebrow; Thin ribs; Triangular face
CD963q13.13-q13.99.8%gene with protein product606037Abnormality of cardiovascular system morphology; Abnormality of immune system physiology; Abnormality of the anus; Accessory oral frenulum; Anteverted nares; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Biparietal narrowing; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cryptorchidism; Cutis laxa; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Epicanthus; Failure to thrive; Failure to thrive in infancy; Female pseudohermaphroditism; Fused sternal ossification centers; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hepatomegaly; High palate; Hip dislocation; Hypoplasia of the ear cartilage; Intellectual disability; Limitation of joint mobility; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micromelia; Midline facial capillary hemangioma; Muscular hypotonia; Omphalocele; Patent ductus arteriosus; Pectus excavatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Radial deviation of finger; Redundant skin; Renal cortical cysts; Sacral dimple; Scoliosis; Seizures; Short metacarpal; Short neck; Short nose; Short stature; Smooth philtrum; Strabismus; Talipes; Thick anterior alveolar ridges; Thin vermilion border; Toe syndactyly; Trigonocephaly; Ulnar deviation of finger; Upslanted palpebral fissure; Ventricular septal defect; Wide mouth; Wide nasal bridge
CD963q13.13-q13.99.8%gene with protein product606037Abnormality of cardiovascular system morphology; Abnormality of immune system physiology; Abnormality of the anus; Accessory oral frenulum; Anteverted nares; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Biparietal narrowing; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cryptorchidism; Cutis laxa; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Epicanthus; Failure to thrive; Failure to thrive in infancy; Female pseudohermaphroditism; Fused sternal ossification centers; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hepatomegaly; High palate; Hip dislocation; Hypoplasia of the ear cartilage; Intellectual disability; Limitation of joint mobility; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micromelia; Midline facial capillary hemangioma; Muscular hypotonia; Omphalocele; Patent ductus arteriosus; Pectus excavatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Radial deviation of finger; Redundant skin; Renal cortical cysts; Sacral dimple; Scoliosis; Seizures; Short metacarpal; Short neck; Short nose; Short stature; Smooth philtrum; Strabismus; Talipes; Thick anterior alveolar ridges; Thin vermilion border; Toe syndactyly; Trigonocephaly; Ulnar deviation of finger; Upslanted palpebral fissure; Ventricular septal defect; Wide mouth; Wide nasal bridge
CDKN1C11p15.487.26%gene with protein product600856BWCR, BWSAccelerated skeletal maturation; Adrenal hypoplasia; Adrenocortical carcinoma; Adrenocortical cytomegaly; Autosomal dominant inheritance; Cardiomegaly; Cardiomyopathy; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Decreased testicular size; Delayed skeletal maturation; Depressed nasal bridge; Diastasis recti; Enlarged kidney; Epiphyseal dysplasia; Frontal bossing; Gonadoblastoma; Growth hormone deficiency; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; Hydronephrosis; Hypercalcemia; Hypercalciuria; Hypogonadism; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Macroglossia; Metaphyseal dysplasia; Micromelia; Micropenis; Midface retrusion; Muscular hypotonia; Neonatal hypoglycemia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Omphalocele; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Posterior helix pit; Postnatal growth retardation; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Renal cortical cysts; Short nose; Short stature; Vesicoureteral refluxDisorders of Sex Development
CEP1205q23.2100%gene with protein product613446CCDC100Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Ambiguous genitalia; Apnea; Ataxia; Autosomal recessive inheritance; Bell-shaped thorax; Biparietal narrowing; Brachydactyly; Cerebellar vermis hypoplasia; Coarse facial features; Cone-shaped epiphysis; Cryptorchidism; Episodic tachypnea; Feeding difficulties; Feeding difficulties in infancy; Flat acetabular roof; Gait disturbance; Global developmental delay; Horizontal ribs; Hypertelorism; Hypoplastic facial bones; Hypoplastic pelvis; Intellectual disability; Long face; Macrotia; Micromelia; Microretrognathia; Midface retrusion; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Natal tooth; Nystagmus; Oculomotor apraxia; Omphalocele; Patent ductus arteriosus; Preaxial polydactyly; Prominent nose; Pulmonary hypoplasia; Relative macrocephaly; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Short foot; Short ribs; Short thorax; Skeletal dysplasia; Unicoronal synostosisShort-Rib Thoracic Dysplasia
COL11A11p21.199.98%gene with protein product120280COLL6Abnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormal vitreous humor morphology; Abnormality of the dentition; Abnormality of the metaphysis; Abnormality of the pinna; Absent frontal sinuses; Amblyopia; Anterior rib cupping; Anteverted nares; Arachnodactyly; Arthralgia; Arthropathy; Astigmatism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bifid uvula; Brachycephaly; Brachydactyly; Broad ischia; Broad long bones; Broad ribs; Calcification of falx cerebri; Camptodactyly; Cataract; Cerebral calcification; Cleft palate; Clinodactyly of the 5th finger; Congenital cataract; Corneal opacity; Coxa valga; Depressed nasal bridge; Downslanted palpebral fissures; Dumbbell-shaped long bone; Ectopia lentis; Epicanthus; Epiphyseal dysplasia; Esotropia; Femoral bowing; Fibular hypoplasia; Flat face; Frontal bossing; Genu valgum; Glaucoma; Glossoptosis; Hearing abnormality; High myopia; Hydrops fetalis; Hypertelorism; Hypohidrosis; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Hypoplastic fingernail; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic scapulae; Hypoplastic toenails; Hypotrichosis; Irregular distal femoral epiphysis; Irregular proximal tibial epiphyses; Irregular vertebral endplates; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Lens luxation; Long clavicles; Long fingers; Long philtrum; Low-set ears; Macrodontia of permanent maxillary central incisor; Malar flattening; Megalocornea; Meningeal calcification; Micrognathia; Micromelia; Midface retrusion; Myopia; Narrow chest; Narrow greater sacrosciatic notches; Narrow mouth; Omphalocele; Osteoarthritis; Patent foramen ovale; Pierre-Robin sequence; Platyspondyly; Posterior rib cupping; Posterior vertebral hypoplasia; Premature birth; Proptosis; Protuberant abdomen; Radial bowing; Respiratory insufficiency; Retinal detachment; Retinopathy; Rhizomelia; Round face; Sensorineural hearing impairment; Short femur; Short foot; Short long bone; Short neck; Short nose; Short palm; Short ribs; Short stature; Small distal femoral epiphysis; Small hand; Small proximal tibial epiphyses; Spondyloepiphyseal dysplasia; Stillbirth; Thick lower lip vermilion; Thick upper lip vermilion; Thickened calvaria; Thin clavicles; Thin ribs; Thoracic hypoplasia; Ulnar bowing; Upper airway obstruction; Visual impairment; Vitreoretinal degeneration; Wide anterior fontanel; Wide nasal bridge; Wide tufts of distal phalanges; Widely patent coronal suture; Widely patent sagittal sutureEctodermal Dysplasia
COL11A26p21.32100%gene with protein product120290DFNA13, DFNB53Abnormal diaphysis morphology; Abnormal form of the vertebral bodies; Abnormality of pelvic girdle bone morphology; Abnormality of the eye; Abnormality of the metaphysis; Abnormality of the skin; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Arthralgia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bell-shaped thorax; Brachydactyly; Broad ribs; Bulbous nose; Cleft palate; Conductive hearing impairment; Coronal cleft vertebrae; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Dumbbell-shaped long bone; Enlarged epiphyses; Enlarged joints; Epiphyseal dysplasia; Feeding difficulties in infancy; Flared metaphysis; Flexion contracture; Global developmental delay; Glossoptosis; Hearing abnormality; Hyperlordosis; Hypertelorism; Hypoplastic fingernail; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic pubic bone; Hypoplastic scapulae; Joint stiffness; Kyphosis; Large tarsal bones; Long philtrum; Low-set ears; Lumbar hyperlordosis; Malar flattening; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mixed hearing impairment; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow mouth; Osteoarthritis; Pierre-Robin sequence; Platyspondyly; Premature osteoarthritis; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Recurrent pneumonia; Respiratory insufficiency; Rhizomelia; Round face; Sensorineural hearing impairment; Short femur; Short long bone; Short metacarpal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Submucous cleft soft palate; Thoracic hypoplasia; Wide anterior fontanel
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL2A112q13.11100%gene with protein product120140SEDC, AOMAbdominal distention; Abnormal cartilage collagen; Abnormal enchondral ossification; Abnormal vitreous humor morphology; Abnormality of epiphysis morphology; Abnormality of fibula morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the carpal bones; Abnormality of the dentition; Abnormality of the foot; Abnormality of the metaphysis; Abnormality of the sternum; Abnormality of the wrist; Abnormality of ulnar metaphysis; Abnormality of vertebral epiphysis morphology; Absent styloid process of ulna; Absent vertebral body mineralization; Acetabular spurs; Anisospondyly; Anonychia; Anterior rib cupping; Anteverted nares; Aplasia/Hypoplasia of the capital femoral epiphysis; Aplasia/Hypoplasia of the lungs; Arachnodactyly; Arthralgia; Arthropathy; Aseptic necrosis; Asteroid hyalosis; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Barrel-shaped chest; Beaking of vertebral bodies; Blindness; Brachydactyly; Broad forehead; Broad long bones; Broad palm; Broad thumb; Bulbous nose; C1-C2 subluxation; Cartilage destruction; Cataract; Cervical myelopathy; Cleft palate; Club-shaped proximal femur; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cystic hygroma; Decreased cranial base ossification; Delayed calcaneal ossification; Delayed epiphyseal ossification; Delayed gross motor development; Delayed pubic bone ossification; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Disc-like vertebral bodies; Disproportionate short stature; Disproportionate short-limb short stature; Disproportionate short-trunk short stature; Disproportionate tall stature; Dumbbell-shaped long bone; Edema; Enlarged joints; Enlarged thorax; Epiphyseal dysplasia; Exostoses; Femoral hernia; Flared metaphysis; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Flattened, squared-off epiphyses of tubular bones; Flexion contracture; Frontal bossing; Gait disturbance; Generalized hypotonia; Generalized joint laxity; Genu valgum; Genu varum; Glaucoma; Glossoptosis; Growth abnormality; Hearing impairment; Hip contracture; Hip dislocation; Hip osteoarthritis; Horizontal ribs; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypoplasia of the capital femoral epiphysis; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic iliac wing; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypoplastic scapulae; Inguinal hernia; Intervertebral space narrowing; Irregular femoral epiphysis; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint stiffness; Knee osteoarthritis; Kyphoscoliosis; Kyphosis; Large tarsal bones; Lethal skeletal dysplasia; Limb undergrowth; Limitation of joint mobility; Limitation of knee mobility; Limited elbow extension; Limited elbow movement; Limited hip movement; Long philtrum; Low-set ears; Lower limb asymmetry; Lumbar hyperlordosis; Lumbar kyphoscoliosis; Macrocephaly; Malar flattening; Metaphyseal cupping; Metaphyseal dappling; Metaphyseal dysplasia; Metaphyseal enchondromatosis; Metaphyseal irregularity; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Mild neurosensory hearing impairment; Mild short stature; Mitral valve prolapse; Mixed hearing impairment; Motor delay; Multiple enchondromatosis; Muscular hypotonia of the trunk; Myopia; Narrow chest; Narrow femoral neck; Narrow greater sacrosciatic notches; Narrow iliac wings; Narrow mouth; Neonatal short-limb short stature; Neonatal short-trunk short stature; Osteoarthritis; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Pes planus; Pierre-Robin sequence; Platyspondyly; Polyhydramnios; Premature osteoarthritis; Pretibial blistering; Prominent forehead; Prominent interphalangeal joints; Proptosis; Protuberant abdomen; Pugilistic facies; Pulmonary hypoplasia; Recurrent fractures; Recurrent otitis media; Recurrent pneumonia; Respiratory distress; Restrictive ventilatory defect; Retinal detachment; Retinal dysplasia; Retinal thinning; Retinopathy; Rhegmatogenous retinal detachment; Rhizomelia; Round face; Scoliosis; Sensorineural hearing impairment; Severe limb shortening; Severe platyspondyly; Severe short stature; Short distal phalanx of finger; Short distal phalanx of the 2nd finger; Short distal phalanx of the 3rd finger; Short distal phalanx of the 4th finger; Short distal phalanx of the 5th finger; Short femoral neck; Short femur; Short foot; Short long bone; Short metacarpal; Short metatarsal; Short neck; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Short tubular bones of the hand; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Skeletal dysplasia; Skeletal muscle atrophy; Skin erosion; Splayed epiphyses; Spondyloepimetaphyseal dysplasia; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stiff neck; Stillbirth; Submucous cleft soft palate; Talipes equinovarus; Thickened nuchal skin fold; Thin ribs; Thoracic kyphosis; Tracheomalacia; Type E brachydactyly; Umbilical hernia; Vertebral segmentation defect; Vitreoretinal degeneration; Waddling gait
COL9A16q1399.94%gene with protein product120210Abnormality of epiphysis morphology; Abnormality of the knee; Amblyopia; Arthralgia; Arthralgia of the hip; Astigmatism; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Childhood onset; Cleft palate; Degenerative vitreoretinopathy; Epiphyseal dysplasia; Flat capital femoral epiphysis; Flat distal femoral epiphysis; Flat face; Gait disturbance; Genu valgum; High myopia; Hip dysplasia; Irregular distal femoral epiphysis; Irregular epiphyses; Irregular vertebral endplates; Joint hyperflexibility; Limitation of joint mobility; Malar flattening; Micrognathia; Micromelia; Multiple epiphyseal dysplasia; Myopia; Osteoarthritis; Platyspondyly; Retinal detachment; Sensorineural hearing impairment; Short stature; Small epiphyses; Vitreoretinal degeneration
COL9A21p34.2100%gene with protein product120260EDM2Abnormality of epiphysis morphology; Amblyopia; Arthralgia; Astigmatism; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Childhood onset; Cleft palate; Epiphyseal dysplasia; Flat face; Flattened epiphysis; Gait disturbance; Genu valgum; Genu varum; Heterogeneous; High myopia; Hip dysplasia; Irregular epiphyses; Irregular vertebral endplates; Joint hyperflexibility; Knee osteoarthritis; Limitation of joint mobility; Malar flattening; Micrognathia; Micromelia; Mild short stature; Myopia; Osteoarthritis; Platyspondyly; Retinal detachment; Sensorineural hearing impairment; Short palm; Short stature; Small epiphyses; Vitreoretinal degeneration; Waddling gait
COL9A320q13.3399.98%gene with protein product120270Abnormality of epiphysis morphology; Abnormality of the hip joint; Amblyopia; Arthralgia; Astigmatism; Autosomal dominant inheritance; Cataract; Cleft palate; Delayed epiphyseal ossification; Epiphyseal dysplasia; Flat face; Gait disturbance; Genu valgum; Heterogeneous; Hip dysplasia; Irregular epiphyses; Irregular vertebral endplates; Joint hyperflexibility; Limitation of joint mobility; Malar flattening; Micrognathia; Micromelia; Mild short stature; Mildly elevated creatine phosphokinase; Myopia; Osteoarthritis; Platyspondyly; Proximal muscle weakness; Retinal detachment; Sensorineural hearing impairment; Short metacarpal; Short stature; Small epiphyses; Vitreoretinal degeneration
COMP19p13.11100%gene with protein product600310PSACH, EDM1, EPD1Abnormality of epiphysis morphology; Abnormality of the hip bone; Abnormality of the metaphysis; Arthralgia; Atlantoaxial dislocation; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Beaking of vertebral bodies; Brachydactyly; Broad femoral neck; Carpal bone hypoplasia; Cervical cord compression; Childhood onset short-limb short stature; Delayed epiphyseal ossification; Delayed skeletal maturation; Disproportionate short-limb short stature; Epiphyseal dysplasia; Flared femoral metaphysis; Fragmented epiphyses; Fragmented, irregular epiphyses; Gait disturbance; Generalized joint laxity; Genu recurvatum; Genu valgum; Genu varum; Hamartomatous polyposis; Heterogeneous; Hip dysplasia; Hip osteoarthritis; Hyperlordosis; Hypoplasia of the odontoid process; Intestinal polyposis; Irregular carpal bones; Irregular epiphyses; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphosis; Limitation of joint mobility; Limited elbow extension; Limited hip extension; Limited hip movement; Lumbar hyperlordosis; Micromelia; Mild short stature; Osteoarthritis; Ovoid vertebral bodies; Platyspondyly; Radial metaphyseal irregularity; Scoliosis; Sensory neuropathy; Severe short stature; Short distal phalanx of finger; Short femoral neck; Short foot; Short long bone; Short metacarpal; Short palm; Short phalanx of finger; Small epiphyses; Small epiphyses of the phalanges of the hand; Spatulate ribs; Ulnar deviation of the hand; Ulnar deviation of the wrist; Ulnar metaphyseal irregularity; Waddling gait
COMP19p13.11100%gene with protein product600310PSACH, EDM1, EPD1Abnormality of epiphysis morphology; Abnormality of the hip bone; Abnormality of the metaphysis; Arthralgia; Atlantoaxial dislocation; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Beaking of vertebral bodies; Brachydactyly; Broad femoral neck; Carpal bone hypoplasia; Cervical cord compression; Childhood onset short-limb short stature; Delayed epiphyseal ossification; Delayed skeletal maturation; Disproportionate short-limb short stature; Epiphyseal dysplasia; Flared femoral metaphysis; Fragmented epiphyses; Fragmented, irregular epiphyses; Gait disturbance; Generalized joint laxity; Genu recurvatum; Genu valgum; Genu varum; Hamartomatous polyposis; Heterogeneous; Hip dysplasia; Hip osteoarthritis; Hyperlordosis; Hypoplasia of the odontoid process; Intestinal polyposis; Irregular carpal bones; Irregular epiphyses; Irregular vertebral endplates; Joint dislocation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphosis; Limitation of joint mobility; Limited elbow extension; Limited hip extension; Limited hip movement; Lumbar hyperlordosis; Micromelia; Mild short stature; Osteoarthritis; Ovoid vertebral bodies; Platyspondyly; Radial metaphyseal irregularity; Scoliosis; Sensory neuropathy; Severe short stature; Short distal phalanx of finger; Short femoral neck; Short foot; Short long bone; Short metacarpal; Short palm; Short phalanx of finger; Small epiphyses; Small epiphyses of the phalanges of the hand; Spatulate ribs; Ulnar deviation of the hand; Ulnar deviation of the wrist; Ulnar metaphyseal irregularity; Waddling gait
CRTAP3p22.3100%gene with protein product605497Absent pulmonary artery; Autosomal recessive inheritance; Blue sclerae; Bowing of the legs; Breech presentation; Coxa vara; Crumpled long bones; Death in infancy; Decreased calvarial ossification; Delayed cranial suture closure; Externally rotated/abducted legs; Hydronephrosis; Hypoplastic pulmonary veins; Long philtrum; Micromelia; Multiple prenatal fractures; Multiple rib fractures; Narrow chest; Osteopenia; Pectus excavatum; Proptosis; Protrusio acetabuli; Recurrent fractures; Rhizomelia; Round face; Scoliosis; Vertebral compression fractures; Wide anterior fontanel; Wide cranial sutures; Wormian bones
CUL76p21.1100%gene with protein product609577KIAA0076Abnormality of dental enamel; Abnormality of the elbow; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Broad forehead; Bulbous nose; Clinodactyly of the 5th finger; Decreased testicular size; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Dolichocephaly; Enlarged thorax; Everted lower lip vermilion; Frontal bossing; Hip dislocation; Horizontal ribs; Hyperlordosis; Hypoplasia of the ulna; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Hypospadias; Increased vertebral height; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Long philtrum; Malar flattening; Mandibular prognathia; Micromelia; Midface retrusion; Neonatal respiratory distress; Pectus excavatum; Pes planus; Pointed chin; Postnatal growth retardation; Protruding ear; Rocker bottom foot; Scapular winging; Short 5th finger; Short neck; Short ribs; Short stature; Short thorax; Slender long bone; Small for gestational age; Spina bifida occulta; Thick eyebrow; Thick lower lip vermilion; Thin ribs; Triangular face
DDR21q23.3100%gene with protein product191311TYRO10, NTRKR3Abnormal calcification of the carpal bones; Abnormality of the neck; Anterior rib cupping; Atlantoaxial instability; Autosomal recessive inheritance; Bell-shaped thorax; Bowing of the legs; Broad metacarpals; Broad phalanx; C1-C2 subluxation; Calcification of falx cerebri; Depressed nasal bridge; Disproportionate short-limb short stature; Elbow flexion contracture; Epiphyseal stippling; Flared iliac wings; Flared metaphysis; Frontal bossing; Generalized hypotonia; Global developmental delay; High palate; Hip subluxation; Hypertelorism; Hypoplasia of the odontoid process; Knee flexion contracture; Long fibula; Malar flattening; Metatarsus adductus; Micrognathia; Micromelia; Midface retrusion; Muscular hypotonia; Pectus excavatum; Platyspondyly; Posterior rib cupping; Progressive calcification of costochondral cartilage; Proptosis; Recurrent pneumonia; Restrictive ventilatory defect; Scoliosis; Short long bone; Short metacarpal; Short nose; Short phalanx of finger; Short ribs; Spinal cord compression; Spondyloepimetaphyseal dysplasia; Syringomyelia; Thoracic hypoplasia; Tracheal calcification; Triangular shaped distal phalanges of the hand
DDRGK120p13100%gene with protein product616177C20orf116Abdominal distention; Abnormality of the abdominal wall; Autosomal recessive inheritance; Bell-shaped thorax; Central vertebral hypoplasia; Coxa vara; Delayed epiphyseal ossification; Disproportionate short stature; Fibular overgrowth; Flared metaphysis; Genu varum; Hepatomegaly; Joint laxity; Lumbar hyperlordosis; Metaphyseal irregularity; Micromelia; Narrow greater sacrosciatic notches; Narrow vertebral interpedicular distance; Platyspondyly; Short femoral neck; Short neck; Short ribs; Splenomegaly; Spondyloepimetaphyseal dysplasia; Thin vermilion border; Vertebral hypoplasia
DHCR711q13.4100%gene with protein product602858SLOS2-3 toe syndactyly; Abnormal dermatoglyphics; Abnormal lung lobation; Abnormality of dental morphology; Abnormality of the larynx; Abnormality of the metacarpal bones; Aganglionic megacolon; Aggressive behavior; Ambiguous genitalia; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Bicornuate uterus; Bifid scrotum; Biparietal narrowing; Breech presentation; Broad alveolar ridges; Cataract; Cholestatic liver disease; Cleft palate; Clitoral hypertrophy; Coarctation of aorta; Constipation; Cryptorchidism; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased fetal movement; Dental crowding; Depressed nasal bridge; Eczema; Elevated 7-dehydrocholesterol; Epicanthus; Epiphyseal stippling; Excessive daytime somnolence; Facial capillary hemangioma; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Gastrointestinal dysmotility; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hammertoe; Hearing impairment; Hip dislocation; Hip subluxation; Holoprosencephaly; Hydrocephalus; Hydronephrosis; Hyperactivity; Hypertelorism; Hypertonia; Hypocholesterolemia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Hypospadias; Increased nuchal translucency; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metatarsus adductus; Microcephaly; Microglossia; Micrognathia; Micromelia; Micropenis; Muscular hypotonia; Narrow forehead; Nystagmus; Overlapping toe; Patent ductus arteriosus; Periventricular gray matter heterotopia; Polyhydramnios; Poor suck; Postaxial foot polydactyly; Postaxial hand polydactyly; Posteriorly rotated ears; Precocious puberty; Premature birth; Proximal placement of thumb; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Recurrent infections; Recurrent otitis media; Renal agenesis; Renal cyst; Renal hypoplasia; Scrotal hypoplasia; Seizures; Self-injurious behavior; Self-mutilation; Septate vagina; Severe photosensitivity; Short neck; Short stature; Short thumb; Short toe; Sleep-wake cycle disturbance; Strabismus; Talipes calcaneovalgus; Tracheal stenosis; Ureteropelvic junction obstruction; Ventricular septal defect; Ventriculomegaly; Vomiting; Wide intermamillary distance; Wide mouth; Wide nasal bridgeDisorders of Sex Development
DONSON21q22.11100%gene with protein product611428C21orf60Abnormality of the hand; Autosomal recessive inheritance; Forearm undergrowth; Intrauterine growth retardation; Microcephaly; Micromelia
DVL11p36.33100%gene with protein product601365Anteverted nares; Autosomal dominant inheritance; Bifid distal phalanx of toe; Bifid tongue; Brachydactyly; Broad thumb; Broad toe; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Congenital onset; Cryptorchidism; Curly eyelashes; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Duplication of the distal phalanx of hand; Epicanthus; Euryblepharon; Flat face; Frontal bossing; Gingival overgrowth; Global developmental delay; Hemivertebrae; High forehead; High, narrow palate; Hydronephrosis; Hypertelorism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic labia minora; Inguinal hernia; Intellectual disability; Long eyelashes; Long palpebral fissure; Long philtrum; Macrocephaly; Macroglossia; Malar flattening; Median cleft lip and palate; Mesomelia; Micrognathia; Micromelia; Micropenis; Midface retrusion; Nevus flammeus; Open bite; Pectus excavatum; Posteriorly rotated ears; Prominent forehead; Proptosis; Radial deviation of finger; Renal duplication; Retrognathia; Right ventricular outlet obstruction; Severe short stature; Short distal phalanx of finger; Short hard palate; Short middle phalanx of the 5th finger; Short nose; Short palm; Thin upper lip vermilion; Triangular mouth; Umbilical hernia; Upslanted palpebral fissure; Wide anterior fontanel; Wide nasal bridge; Wide nose
DVL33q27.1100%gene with protein product601368Anteverted nares; Autosomal dominant inheritance; Bifid tongue; Brachydactyly; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Cryptorchidism; Curly eyelashes; Depressed nasal bridge; Downturned corners of mouth; Epicanthus; Euryblepharon; Frontal bossing; Gingival overgrowth; Hemivertebrae; High, narrow palate; Hypertelorism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic labia minora; Hypoplastic right heart; Long eyelashes; Long palpebral fissure; Long philtrum; Macrocephaly; Median cleft lip and palate; Mesomelia; Micrognathia; Micromelia; Midface retrusion; Open bite; Patent ductus arteriosus; Patent foramen ovale; Pectus excavatum; Prominent forehead; Proptosis; Pulmonary artery atresia; Retrognathia; Severe short stature; Short nose; Short palm; Short stature; Tricuspid regurgitation; Umbilical hernia; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge; Wide nose
DYM18q21.1100%gene with protein product607461Abnormality of epiphysis morphology; Abnormality of the ilium; Abnormality of the metaphysis; Abnormality of the wrist; Atlantoaxial instability; Autosomal recessive inheritance; Barrel-shaped chest; Beaking of vertebral bodies; Broad foot; Broad palm; Camptodactyly; Carpal bone hypoplasia; Coarse facial features; Cone-shaped epiphyses of the phalanges of the hand; Deformed sella turcica; Delayed femoral head ossification; Disproportionate short-trunk short stature; Dolichocephaly; Enlargement of the costochondral junction; Flat acetabular roof; Flat glenoid fossa; Genu valgum; Genu varum; Global developmental delay; Hip dislocation; Hyperlordosis; Hypoplasia of the odontoid process; Hypoplastic acetabulae; Hypoplastic facial bones; Hypoplastic iliac wing; Hypoplastic scapulae; Iliac crest serration; Intellectual disability; Irregular epiphyses; Joint stiffness; Kyphosis; Lumbar hyperlordosis; Mandibular prognathia; Metaphyseal irregularity; Microcephaly; Micromelia; Multicentric femoral head ossification; Multicentric ossification of proximal femoral epiphyses; Multicentric ossification of proximal humeral epiphyses; Narrow greater sacrosciatic notches; Neurological speech impairment; Pectus carinatum; Platyspondyly; Postnatal growth retardation; Prominent sternum; Rhizomelia; Scoliosis; Severe global developmental delay; Shield chest; Short metacarpal; Short metatarsal; Short neck; Short phalanx of finger; Short thorax; Skeletal dysplasia; Sloping forehead; Spinal canal stenosis; Thickened calvaria; Thoracic kyphosis; Waddling gait; Wide pubic symphysis
DYNC2H111q22.399.78%gene with protein product603297DNCH2Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Brachydactyly; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Renal hypoplasia; Respiratory insufficiency; Short foot; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseDisorders of Sex Development; Heterotaxy ; Short-Rib Thoracic Dysplasia
DYNC2H111q22.399.78%gene with protein product603297DNCH2Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Brachydactyly; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Renal hypoplasia; Respiratory insufficiency; Short foot; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseDisorders of Sex Development; Heterotaxy ; Short-Rib Thoracic Dysplasia
DYNC2LI12p21100%gene with protein product617083Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cone-shaped epiphysis; Conical incisor; Cryptorchidism; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Epispadias; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Hepatomegaly; Horizontal ribs; Hypodontia; Hypoplastic toenails; Hypospadias; Intrauterine growth retardation; Low-set ears; Microdontia; Micromelia; Nail dysplasia; Narrow chest; Neonatal short-limb short stature; Polyhydramnios; Postaxial hand polydactyly; Respiratory insufficiency; Short distal phalanx of finger; Short foot; Short ribs; Short stature; Short thorax; Situs inversus totalis; Skeletal dysplasia; Splenomegaly; Strabismus; Ventricular septal defectHeterotaxy ; Short-Rib Thoracic Dysplasia
DYNC2LI12p21100%gene with protein product617083Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cone-shaped epiphysis; Conical incisor; Cryptorchidism; Depressed nasal bridge; Downslanted palpebral fissures; Epicanthus; Epispadias; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Hepatomegaly; Horizontal ribs; Hypodontia; Hypoplastic toenails; Hypospadias; Intrauterine growth retardation; Low-set ears; Microdontia; Micromelia; Nail dysplasia; Narrow chest; Neonatal short-limb short stature; Polyhydramnios; Postaxial hand polydactyly; Respiratory insufficiency; Short distal phalanx of finger; Short foot; Short ribs; Short stature; Short thorax; Situs inversus totalis; Skeletal dysplasia; Splenomegaly; Strabismus; Ventricular septal defectHeterotaxy ; Short-Rib Thoracic Dysplasia
EVC4p16.299.83%gene with protein product604831Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
EVC24p16.2100%gene with protein product607261Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the alveolar ridges; Abnormality of the antihelix; Abnormality of the fingernails; Acetabular spurs; Advanced eruption of teeth; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Capitate-hamate fusion; Cleft upper lip; Clinodactyly of the 5th finger; Common atrium; Cone-shaped epiphyses of phalanges 2 to 5; Conical incisor; Conical tooth; Cryptorchidism; Dandy-Walker malformation; Delayed eruption of teeth; Ectodermal dysplasia; Epispadias; Facial cleft; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Horizontal ribs; Hypodontia; Hypoplastic iliac wing; Hypoplastic toenails; Hypospadias; Hypotelorism; Intrauterine growth retardation; Microdontia; Micromelia; Mild short stature; Nail dysplasia; Nail dystrophy; Narrow chest; Natal tooth; Neonatal short-limb short stature; Overlapping fingers; Pectus carinatum; Postaxial foot polydactyly; Postaxial hand polydactyly; Prominent antihelix; Short distal phalanx of finger; Short long bone; Short palm; Short ribs; Short thorax; Single median maxillary incisor; Situs inversus totalis; Small hand; Small nail; Strabismus; Talipes equinovarus; Toenail dysplasia; Ventricular septal defectEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
EXT18q24.11100%gene with protein product608177LGCR, LGSAbnormality of femur morphology; Abnormality of the dentition; Abnormality of the foot; Abnormality of the humerus; Abnormality of the metaphysis; Abnormality of tibia morphology; Anteverted nares; Aplasia/Hypoplasia of the mandible; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bulbous nose; Cervical myelopathy; Chondrosarcoma; Cone-shaped epiphyses of the phalanges of the hand; Coxa vara; Cranial nerve paralysis; Deep philtrum; Delayed skeletal maturation; Failure to thrive; Genu valgum; Hypoplasia of the ulna; Intellectual disability; Joint dislocation; Joint hyperflexibility; Juvenile onset; Long philtrum; Low-set, posteriorly rotated ears; Madelung deformity; Madelung-like forearm deformities; Micromelia; Multiple exostoses; Multiple long-bone exostoses; Muscle weakness; Pelvic bone exostoses; Peripheral nerve compression; Protruding ear; Protuberances at ends of long bones; Radial bowing; Redundant skin; Rib exostoses; Scapular exostoses; Short metacarpal; Short stature; Sparse scalp hair; Thick eyebrow; Thin upper lip vermilion
EXT211p11.2100%gene with protein product608210Abnormality of femur morphology; Abnormality of the dentition; Abnormality of the humerus; Abnormality of the metaphysis; Abnormality of tibia morphology; Anteverted nares; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brachycephaly; Broad nasal tip; Cervical myelopathy; Chondrosarcoma; Coarse facial features; Constipation; Coxa vara; Cranial nerve paralysis; Cryptorchidism; Decreased skull ossification; Depressed nasal tip; Downturned corners of mouth; Epicanthus; Exostoses; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Global developmental delay; Hypertelorism; Hypoplasia of the ulna; Infantile onset; Juvenile onset; Macrocephaly; Madelung deformity; Madelung-like forearm deformities; Micrognathia; Micromelia; Micropenis; Multiple exostoses; Muscle weakness; Nystagmus; Overlapping toe; Parietal foramina; Pelvic bone exostoses; Peripheral nerve compression; Poor speech; Prominent nasal bridge; Protuberances at ends of long bones; Radial bowing; Rib exostoses; Scapular exostoses; Scoliosis; Seizures; Short metacarpal; Short philtrum; Short stature; Strabismus; Underdeveloped nasal alae; Ventricular septal defect
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FGFR34p16.3100%gene with protein product134934ACH2-3 finger syndactyly; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of lower limb joint; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the clavicle; Abnormality of the elbow; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Absence of Stensen duct; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Acanthosis nigricans; Alacrima; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the cerebellum; Aplasia/hypoplasia of the extremities; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the mandible; Arachnodactyly; Arnold-Chiari malformation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Bowing of the long bones; Brachycephaly; Brachydactyly; Brain atrophy; Brain stem compression; Broad femoral metaphyses; Broad forehead; Broad hallux; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Carious teeth; Carpal synostosis; Central apnea; Childhood onset short-limb short stature; Choanal atresia; Chronic otitis media; Clinodactyly; Clinodactyly of the 5th finger; Cloverleaf skull; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Conical incisor; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniosynostosis; Cryptorchidism; Cupped ear; Dacryocystitis; Decreased fetal movement; Delayed cranial suture closure; Delayed eruption of primary teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diaphyseal thickening; Downslanted palpebral fissures; Enlarged cerebellum; Excessive wrinkled skin; External ear malformation; Facial asymmetry; Femoral bowing; Fibular bowing; Finger syndactyly; Flared metaphysis; Flat face; Frontal bossing; Generalized joint laxity; Generalized seizures; Genu varum; Global developmental delay; Gonadal dysgenesis; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterotopia; High forehead; High palate; High, narrow palate; Hydrocephalus; Hyperextensible skin; Hyperhidrosis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the corpus callosum; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic ilia; Hypoplastic lacrimal duct; Increased intracranial pressure; Increased nuchal translucency; Increased vertebral height; Infantile muscular hypotonia; Inflammatory abnormality of the eye; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint contracture of the hand; Joint hyperflexibility; Kyphosis; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lethal short-limbed short stature; Limited elbow extension; Limited hip extension; Long thorax; Low anterior hairline; Lumbar hyperlordosis; Lumbar kyphosis in infancy; Macrocephaly; Malar flattening; Megalencephaly; Melanocytic nevus; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal irregularity; Microcephaly; Micromelia; Microtia; Midface retrusion; Mixed hearing impairment; Motor delay; Muscular hypotonia; Narrow chest; Narrow internal auditory canal; Narrow palate; Narrow sacroiliac notch; Nasolacrimal duct obstruction; Neonatal death; Neonatal short-limb short stature; Neoplasm; Neoplasm of the stomach; Nephrosclerosis; Numerous nevi; Obesity; Obstructive sleep apnea; Open bite; Osteochondroma; Otitis media; Partial duplication of thumb phalanx; Pectus excavatum; Periorbital fullness; Plagiocephaly; Platyspondyly; Polyhydramnios; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Proptosis; Ptosis; Radial deviation of finger; Radial deviation of the 3rd finger; Recurrent corneal erosions; Recurrent otitis media; Redundant skin; Renal agenesis; Renal cell carcinoma; Respiratory insufficiency; Rhizomelia; Scoliosis; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe platyspondyly; Severe short stature; Short femoral neck; Short femur; Short foot; Short long bone; Short middle phalanx of finger; Short middle phalanx of toe; Short palm; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Short toe; Skeletal dysplasia; Sleep apnea; Small abnormally formed scapulae; Small face; Small foramen magnum; Small thenar eminence; Somatic mutation; Spinal stenosis with reduced interpedicular distance; Split hand; Sporadic; Strabismus; Tall stature; Tarsal synostosis; Telecanthus; Teratoma; Thimble-shaped middle phalanges of hand; Tibial bowing; Transitional cell carcinoma of the bladder; Trident hand; Turricephaly; Underdeveloped supraorbital ridges; Upper airway obstruction; Uterine leiomyosarcoma; Ventriculomegaly; Visual field defect; Wide anterior fontanel; Wide-cupped costochondral junctions; Wormian bones; XerostomiaObesity; Short-Rib Thoracic Dysplasia
FLNB3p14.3100%gene with protein product603381FLN1L, LRS111 pairs of ribs; Abnormality of femur morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the humerus; Abnormality of the metacarpal bones; Abnormality of the radius; Abnormality of tibia morphology; Absent radius; Accessory carpal bones; Aortic aneurysm; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the lungs; Aplasia/Hypoplasia of the ulna; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Beaking of vertebral bodies; Bipartite calcaneus; Block vertebrae; Brachydactyly; Broad distal phalanx of finger; Broad face; Broad nasal tip; Broad thumb; Bronchomalacia; C2-C3 subluxation; Capitate-hamate fusion; Carpal synostosis; Cataract; Cervical kyphosis; Cervical segmentation defect; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Club-shaped proximal femur; Clubbing; Conductive hearing impairment; Corneal opacity; Coronal cleft vertebrae; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Dislocated wrist; Disproportionate short-trunk short stature; Distal tapering femur; Elbow dislocation; Encephalocele; Epiphyseal dysplasia; Fibular aplasia; Finger syndactyly; Flat acetabular roof; Flat face; Frontal bossing; Fused cervical vertebrae; Growth hormone deficiency; Hip dislocation; Hitchhiker thumb; Horizontal sacrum; Hydrops fetalis; Hyperlordosis; Hypertelorism; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hypoplastic iliac body; Hypoplastic nasal septum; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Knee dislocation; Large joint dislocations; Laryngeal stenosis; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Mixed hearing impairment; Multinucleated giant chondrocytes in epiphyseal cartilage; Multiple carpal ossification centers; Narrow chest; Neonatal death; Omphalocele; Pectus carinatum; Pectus excavatum; Pes planus; Polyhydramnios; Poorly ossified vertebrae; Preauricular skin tag; Premature birth; Prominent forehead; Prominent occiput; Proptosis; Radial bowing; Renal cyst; Restrictive ventilatory defect; Rhizomelia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Severe short stature; Severe short-limb dwarfism; Shallow orbits; Short distal phalanx of finger; Short femur; Short humerus; Short metacarpal; Short metatarsal; Short nail; Short neck; Short nose; Short stature; Spatulate thumbs; Spina bifida occulta; Spinal cord compression; Spondylolysis; Sporadic; Stillbirth; Talipes equinovalgus; Talipes equinovarus; Tarsal synostosis; Thoracic platyspondyly; Tibial bowing; Tombstone-shaped proximal phalanges; Tracheal stenosis; Tracheomalacia; Underdeveloped nasal alae; Ventricular septal defect; Wide nasal bridge; Widened distal phalanges
FN12q35100%gene with protein product135600Abnormality of the wrist; Autosomal dominant inheritance; Coxa vara; Edema of the lower limbs; Generalized distal tubular acidosis; Glomerulopathy; Hyperconvex vertebral body endplates; Hyperlordosis; Hypertension; Hypoalbuminemia; Hypoplasia of the odontoid process; Mesangial abnormality; Metaphyseal irregularity; Micromelia; Microscopic hematuria; Mild short stature; Nephrotic syndrome; Ovoid vertebral bodies; Proteinuria; Recurrent fractures; Renal cell carcinoma; Renal insufficiency; Short femoral neck; Short stature; Slow progression; Spondylometaphyseal dysplasia; Stage 5 chronic kidney disease; Waddling gait
FZD217q21.31100%gene with protein product600667Anteverted nares; Bifid scrotum; Bifid tongue; Brachydactyly; Clinodactyly of the 5th finger; Clitoral hypoplasia; Cryptorchidism; Curly eyelashes; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Epicanthus; Euryblepharon; Frontal bossing; Gingival overgrowth; Hemivertebrae; High, narrow palate; Hypertelorism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic labia minora; Long eyelashes; Long palpebral fissure; Long philtrum; Macrocephaly; Malar flattening; Median cleft lip and palate; Micrognathia; Micromelia; Midface retrusion; Open bite; Pectus excavatum; Prominent forehead; Proptosis; Retrognathia; Rhizomelia; Severe short stature; Short 1st metacarpal; Short humerus; Short nose; Short palm; Umbilical hernia; Upslanted palpebral fissure; Wide nasal bridge; Wide nose
GDF520q11.22100%gene with protein product6011462-3 toe syndactyly; Abnormal finger flexion creases; Abnormality of epiphysis morphology; Abnormality of the ankles; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the radius; Abnormality of the thumb; Abnormality of the ulna; Abnormality of tibia morphology; Abnormally shaped carpal bones; Absent toe; Acromesomelia; Aplasia of the middle phalanges of the toes; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the 1st metacarpal; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the thumb; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bowing of the long bones; Brachydactyly; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad hallux; Broad thumb; Camptodactyly of finger; Carpal synostosis; Clinodactyly of the 5th finger; Cognitive impairment; Complete duplication of distal phalanx of the thumb; Conductive hearing impairment; Cone-shaped epiphyses of the middle phalanges of the hand; Cone-shaped epiphysis; Cuboidal metacarpal; Death in infancy; Deformed tarsal bones; Delayed eruption of teeth; Deviation of finger; Disproportionate short-limb short stature; Distal femoral bowing; Elbow ankylosis; Elbow dislocation; Enlarged epiphysis of the middle phalanx of the 2nd finger; Enlarged epiphysis of the middle phalanx of the 3rd finger; Enlarged epiphysis of the proximal phalanx of the 2nd finger; Enlarged epiphysis of the proximal phalanx of the 3rd finger; Fibular aplasia; Fibular hypoplasia; Finger symphalangism; Flexion contracture; Hallux valgus; Hip dislocation; Hip dysplasia; Hip osteoarthritis; Humeroradial synostosis; Hypersegmentation of proximal phalanx of second finger; Hypersegmentation of proximal phalanx of third finger; Hypodontia; Hypoplasia of the radius; Hypoplasia of the ulna; Joint stiffness; Limitation of joint mobility; Madelung deformity; Malaligned carpal bone; Medially deviated second toe; Metacarpophalangeal synostosis; Micromelia; Narrow nasal bridge; Neurological speech impairment; Patellar dislocation; Pes planus; Pes valgus; Polydactyly; Postaxial hand polydactyly; Proximal symphalangism; Proximal/middle symphalangism of 5th finger; Pseudoepiphyses of the 2nd finger; Pseudoepiphyses of the 3rd finger; Radial bowing; Radial deviation of the 2nd finger; Rhizomelia; Sarcoma; Scoliosis; Sensorineural hearing impairment; Severe short-limb dwarfism; Short 1st metacarpal; Short 2nd finger; Short 3rd finger; Short digit; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short palm; Short phalanx of finger; Short stature; Short thumb; Short tibia; Short toe; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Single transverse palmar crease; Skeletal dysplasia; Small nail; Stillbirth; Stippling of the epiphysis of the distal phalanx of the thumb; Symphalangism affecting the phalanges of the hand; Synostosis of carpal bones; Talipes equinovalgus; Tarsal synostosis; Triangular epiphysis of the middle phalanx of the 2nd finger; Triangular epiphysis of the middle phalanx of the 3rd finger; Triangular epiphysis of the proximal phalanx of the 2nd finger; Triangular epiphysis of the proximal phalanx of the 3rd finger; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 3rd finger; Triangular shaped middle phalanx of the 5th finger; Triangular shaped proximal phalanx of the 2nd finger; Triangular shaped proximal phalanx of the 3rd finger; Type A2 brachydactyly; Type C brachydactyly; Ulnar deviation of finger; Ulnar deviation of the 2nd finger; Ulnar deviation of the 3rd finger; Valgus hand deformity; Vertebral fusion; Wide nose
GDF520q11.22100%gene with protein product6011462-3 toe syndactyly; Abnormal finger flexion creases; Abnormality of epiphysis morphology; Abnormality of the ankles; Abnormality of the fingernails; Abnormality of the hip bone; Abnormality of the radius; Abnormality of the thumb; Abnormality of the ulna; Abnormality of tibia morphology; Abnormally shaped carpal bones; Absent toe; Acromesomelia; Aplasia of the middle phalanges of the toes; Aplasia/Hypoplasia involving the metacarpal bones; Aplasia/Hypoplasia of metatarsal bones; Aplasia/Hypoplasia of the 1st metacarpal; Aplasia/Hypoplasia of the fibula; Aplasia/Hypoplasia of the middle phalanges of the toes; Aplasia/Hypoplasia of the middle phalanx of the 2nd finger; Aplasia/Hypoplasia of the middle phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Aplasia/Hypoplasia of the thumb; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bowing of the long bones; Brachydactyly; Bracket epiphysis of the middle phalanx of the 2nd finger; Bracket epiphysis of the middle phalanx of the 5th finger; Broad hallux; Broad thumb; Camptodactyly of finger; Carpal synostosis; Clinodactyly of the 5th finger; Cognitive impairment; Complete duplication of distal phalanx of the thumb; Conductive hearing impairment; Cone-shaped epiphyses of the middle phalanges of the hand; Cone-shaped epiphysis; Cuboidal metacarpal; Death in infancy; Deformed tarsal bones; Delayed eruption of teeth; Deviation of finger; Disproportionate short-limb short stature; Distal femoral bowing; Elbow ankylosis; Elbow dislocation; Enlarged epiphysis of the middle phalanx of the 2nd finger; Enlarged epiphysis of the middle phalanx of the 3rd finger; Enlarged epiphysis of the proximal phalanx of the 2nd finger; Enlarged epiphysis of the proximal phalanx of the 3rd finger; Fibular aplasia; Fibular hypoplasia; Finger symphalangism; Flexion contracture; Hallux valgus; Hip dislocation; Hip dysplasia; Hip osteoarthritis; Humeroradial synostosis; Hypersegmentation of proximal phalanx of second finger; Hypersegmentation of proximal phalanx of third finger; Hypodontia; Hypoplasia of the radius; Hypoplasia of the ulna; Joint stiffness; Limitation of joint mobility; Madelung deformity; Malaligned carpal bone; Medially deviated second toe; Metacarpophalangeal synostosis; Micromelia; Narrow nasal bridge; Neurological speech impairment; Patellar dislocation; Pes planus; Pes valgus; Polydactyly; Postaxial hand polydactyly; Proximal symphalangism; Proximal/middle symphalangism of 5th finger; Pseudoepiphyses of the 2nd finger; Pseudoepiphyses of the 3rd finger; Radial bowing; Radial deviation of the 2nd finger; Rhizomelia; Sarcoma; Scoliosis; Sensorineural hearing impairment; Severe short-limb dwarfism; Short 1st metacarpal; Short 2nd finger; Short 3rd finger; Short digit; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short middle phalanx of finger; Short middle phalanx of the 5th finger; Short palm; Short phalanx of finger; Short stature; Short thumb; Short tibia; Short toe; Shortening of all middle phalanges of the fingers; Shortening of all proximal phalanges of the fingers; Single transverse palmar crease; Skeletal dysplasia; Small nail; Stillbirth; Stippling of the epiphysis of the distal phalanx of the thumb; Symphalangism affecting the phalanges of the hand; Synostosis of carpal bones; Talipes equinovalgus; Tarsal synostosis; Triangular epiphysis of the middle phalanx of the 2nd finger; Triangular epiphysis of the middle phalanx of the 3rd finger; Triangular epiphysis of the proximal phalanx of the 2nd finger; Triangular epiphysis of the proximal phalanx of the 3rd finger; Triangular shaped middle phalanx of the 2nd finger; Triangular shaped middle phalanx of the 3rd finger; Triangular shaped middle phalanx of the 5th finger; Triangular shaped proximal phalanx of the 2nd finger; Triangular shaped proximal phalanx of the 3rd finger; Type A2 brachydactyly; Type C brachydactyly; Ulnar deviation of finger; Ulnar deviation of the 2nd finger; Ulnar deviation of the 3rd finger; Valgus hand deformity; Vertebral fusion; Wide nose
GLI112q13.3100%gene with protein product165220GLIAbnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormality of oral mucosa; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Aplasia/Hypoplasia of the lungs; Atrial septal defect; Atrioventricular canal defect; Capitate-hamate fusion; Conical incisor; Cryptorchidism; Epispadias; Failure to thrive; Foot polydactyly; Genu valgum; Hand polydactyly; Hypodontia; Hypoplastic toenails; Hypospadias; Intrauterine growth retardation; Microdontia; Micromelia; Nail dysplasia; Narrow chest; Neonatal short-limb short stature; Short distal phalanx of finger; Short thorax; Situs inversus totalis; Strabismus; Ventricular septal defectHeterotaxy
GPC613q31.3-q32.100%gene with protein product604404Abnormality of femur morphology; Abnormality of the metaphysis; Abnormality of the radius; Anterolateral radial head dislocation; Anteverted nares; Atrial septal defect; Autosomal recessive inheritance; Axillary pterygia; Blepharophimosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Elbow dislocation; Epicanthus; Fibular hypoplasia; Flat face; Frontal bossing; Hemangioma; Hypoplastic distal humeri; Increased fibular diameter; Limited elbow extension; Limited elbow flexion; Limited elbow flexion/extension; Limited hip movement; Limited knee extension; Limited knee flexion; Limited knee flexion/extension; Long philtrum; Low-set ears; Malar flattening; Mesomelia; Micrognathia; Micromelia; Popliteal pterygium; Posteriorly rotated ears; Pulmonary artery stenosis; Rhizomelia; Short humerus; Short neck; Short nose; Short tibia; Umbilical hernia; Ventricular septal defect; Wide nasal bridge
HDAC8Xq13.199.94%gene with protein product300269HDACL1, WTS, MRXS6Abnormal facial shape; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Broad nasal tip; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Deeply set eye; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Emotional lability; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; Gynecomastia; High palate; Highly arched eyebrow; Hypertonia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Malar prominence; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Pes cavus; Pes planus; Phthisis bulbi; Poor speech; Premature birth; Prominent supraorbital ridges; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Tapered finger; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Truncal obesity; Vesicoureteral reflux; Widely spaced teethObesity
HHAT1q32.299.89%gene with protein product605743Abnormality of pelvic girdle bone morphology; Abnormality of the shoulder; Blepharophimosis; Brain very small; Broad long bones; Chorioretinal coloboma; Deeply set eye; Hypoplasia of the iris; Increased skull ossification; Intellectual disability; Intrauterine growth retardation; Macrotia; Male pseudohermaphroditism; Microcephaly; Micromelia; Miosis; Narrow chest; Severe short stature; Short metacarpal; Short phalanx of finger; Strabismus; Telecanthus
HSPG21p36.1299.87%gene with protein product142461SJS1Abnormal eyebrow morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of femoral epiphysis; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the metaphysis; Abnormality of the pharynx; Anisospondyly; Anterior bowing of long bones; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Blepharophimosis; Blue sclerae; Bowing of the long bones; Calvarial skull defect; Cataract; Cleft palate; Congenital hip dislocation; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal ridge; Disproportionate short-limb short stature; Elevated aldolase level; Elevated serum creatine phosphokinase; EMG abnormality; Everted lower lip vermilion; Flat face; Flexion contracture of toe; Full cheeks; Gait disturbance; Generalized hirsutism; Genu valgum; High palate; High pitched voice; Hip contracture; Hip dysplasia; Hyperlordosis; Hypertonia; Hyporeflexia; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint stiffness; Kyphoscoliosis; Kyphosis; Long eyelashes in irregular rows; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Malar flattening; Malignant hyperthermia; Mask-like facies; Metaphyseal widening; Metatarsus valgus; Microcornea; Micrognathia; Micromelia; Muscle weakness; Myopathy; Myopia; Myotonia; Narrow chest; Narrow mouth; Neonatal death; Osteoporosis; Overfolded helix; Overgrowth; Pectus carinatum; Pes planus; Platyspondyly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonary hypoplasia; Pursed lips; Respiratory insufficiency; Scoliosis; Short long bone; Short neck; Short stature; Shoulder flexion contracture; Skeletal dysplasia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spinal rigidity; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Trismus; Umbilical hernia; Visual impairment; Weak voice; Wide nasal bridge; Wrist flexion contracture
HSPG21p36.1299.87%gene with protein product142461SJS1Abnormal eyebrow morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of femoral epiphysis; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the metaphysis; Abnormality of the pharynx; Anisospondyly; Anterior bowing of long bones; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Blepharophimosis; Blue sclerae; Bowing of the long bones; Calvarial skull defect; Cataract; Cleft palate; Congenital hip dislocation; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal ridge; Disproportionate short-limb short stature; Elevated aldolase level; Elevated serum creatine phosphokinase; EMG abnormality; Everted lower lip vermilion; Flat face; Flexion contracture of toe; Full cheeks; Gait disturbance; Generalized hirsutism; Genu valgum; High palate; High pitched voice; Hip contracture; Hip dysplasia; Hyperlordosis; Hypertonia; Hyporeflexia; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint stiffness; Kyphoscoliosis; Kyphosis; Long eyelashes in irregular rows; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Malar flattening; Malignant hyperthermia; Mask-like facies; Metaphyseal widening; Metatarsus valgus; Microcornea; Micrognathia; Micromelia; Muscle weakness; Myopathy; Myopia; Myotonia; Narrow chest; Narrow mouth; Neonatal death; Osteoporosis; Overfolded helix; Overgrowth; Pectus carinatum; Pes planus; Platyspondyly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonary hypoplasia; Pursed lips; Respiratory insufficiency; Scoliosis; Short long bone; Short neck; Short stature; Shoulder flexion contracture; Skeletal dysplasia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spinal rigidity; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Trismus; Umbilical hernia; Visual impairment; Weak voice; Wide nasal bridge; Wrist flexion contracture
ICK6p12.1100%gene with protein product612325Abnormality of the pinna; Adrenal hypoplasia; Ambiguous genitalia; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Barrel-shaped chest; Brachydactyly; Cleft palate; Cleft upper lip; Cryptorchidism; Depressed nasal tip; Holoprosencephaly; Hydrocephalus; Hypospadias; Low-set ears; Malar flattening; Micrognathia; Micromelia; Micropenis; Microphallus; Midface retrusion; Postaxial polydactyly; Sandal gap; Scrotal hypoplasia; Shield chest; Syndactyly; Ulnar deviation of the hand; Ventriculomegaly; Wide intermamillary distance; Wide nasal bridgeDisorders of Sex Development
IDH12q3499.98%gene with protein product147700Abnormality of the metaphysis; Bone pain; Exostoses; Hemangiomatosis; Joint stiffness; Micromelia; Multiple enchondromatosis; Osteolysis; Scoliosis; Short stature; Subcutaneous nodule; Venous thrombosis; Visceral angiomatosis
IDH215q26.1100%gene with protein product147650Abnormality of the metaphysis; Autosomal dominant inheritance; Bone pain; Cardiomyopathy; D-2-hydroxyglutaric aciduria; Exostoses; Global developmental delay; Hemangiomatosis; Joint stiffness; Micromelia; Multiple enchondromatosis; Muscular hypotonia; Osteolysis; Scoliosis; Seizures; Short stature; Subcutaneous nodule; Venous thrombosis; Visceral angiomatosis
IFT14016p13.3100%gene with protein product614620WDTC2Abnormal electroretinogram; Abnormality of neuronal migration; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the optic disc; Abnormality of the retinal vasculature; Abnormality of the ribs; Abnormality of the sternum; Abnormality of the testis; Anemia; Anteverted nares; Aplasia/Hypoplasia of the cerebellar vermis; Ataxia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Brachydactyly; Cataract; Cholestasis; Conductive hearing impairment; Cone-shaped epiphysis; Encephalocele; Glaucoma; Hemiplegia/hemiparesis; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the capital femoral epiphysis; Infantile onset; Intellectual disability; Keratoconus; Micromelia; Muscular hypotonia; Narrow chest; Nephronophthisis; Nephropathy; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Photophobia; Progressive night blindness; Renal cyst; Renal dysplasia; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe visual impairment; Short femoral neck; Short foot; Short phalanx of finger; Short stature; Short thorax; Skeletal dysplasia; Stage 5 chronic kidney disease; Visual loss; Wide nasal bridgeHeterotaxy ; Short-Rib Thoracic Dysplasia
IFT1722p23.3100%gene with protein product607386Abnormal electroretinogram; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the retinal vasculature; Abnormality of the ribs; Abnormality of the sternum; Abnormality of the testis; Anteverted nares; Attenuation of retinal blood vessels; Atypical scarring of skin; Autosomal recessive inheritance; Bell-shaped thorax; Blindness; Brachydactyly; Cataract; Cholestasis; Chronic kidney disease; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Delayed speech and language development; Elevated hepatic transaminases; Glaucoma; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Hyperinsulinemia; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Intellectual disability; Keratoconus; Micromelia; Multicystic kidney dysplasia; Narrow chest; Nephronophthisis; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Optic disc pallor; Pancreatitis; Photophobia; Pigmentary retinopathy; Postaxial hand polydactyly; Progressive night blindness; Respiratory insufficiency; Retinal degeneration; Rod-cone dystrophy; Sensorineural hearing impairment; Short foot; Short long bone; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Splenomegaly; Thoracic dysplasia; Thoracic hypoplasia; Wide nasal bridgeBardet-Biedl Syndrome ; Heterotaxy ; Obesity; Short-Rib Thoracic Dysplasia
IFT803q25.3394.79%gene with protein product611177WDR56Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Autosomal recessive inheritance; Brachydactyly; Broad palm; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Mesomelia; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Renal hypoplasia; Respiratory insufficiency; Rhizomelia; Short foot; Short metacarpal; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseShort-Rib Thoracic Dysplasia
IFT803q25.3394.79%gene with protein product611177WDR56Abdominal distention; Abnormal pelvis bone ossification; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Autosomal recessive inheritance; Brachydactyly; Broad palm; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Mesomelia; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Renal hypoplasia; Respiratory insufficiency; Rhizomelia; Short foot; Short metacarpal; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseShort-Rib Thoracic Dysplasia
IHH2q35100%gene with protein product600726Absent distal interphalangeal creases; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad metacarpal epiphyses; Broad nail; Broad palm; Clinodactyly of the 5th finger; Cone-shaped capital femoral epiphysis; Cone-shaped epiphysis; Cone-shaped epiphysis of the 1st metacarpal; Cone-shaped metacarpal epiphyses; Coxa vara; Cupped ribs; Delayed ossification of carpal bones; Delayed skeletal maturation; Disproportionate short stature; Disproportionate short-limb short stature; Distal symphalangism of hands; Dysplasia of the femoral head; Enlargement of the distal femoral epiphysis; Fibular overgrowth; Flared iliac wings; Flattened metatarsal heads; Genu varum; Heterogeneous; Hyperlordosis; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic iliac wing; Lumbar hyperlordosis; Micromelia; Narrow chest; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Proportionate shortening of all digits; Radial deviation of the 2nd finger; Radial deviation of the 3rd finger; Radial deviation of the 4th finger; Relative macrocephaly; Scoliosis; Short distal phalanx of finger; Short femoral neck; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short middle phalanx of finger; Short palm; Short proximal phalanx of finger; Short proximal phalanx of hallux; Short proximal phalanx of thumb; Short ribs; Short stature; Short thumb; Short tibia; Skeletal dysplasia; Slender metacarpals; Small nail; Thin proximal phalanges with broad epiphyses of the hand
IHH2q35100%gene with protein product600726Absent distal interphalangeal creases; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad metacarpal epiphyses; Broad nail; Broad palm; Clinodactyly of the 5th finger; Cone-shaped capital femoral epiphysis; Cone-shaped epiphysis; Cone-shaped epiphysis of the 1st metacarpal; Cone-shaped metacarpal epiphyses; Coxa vara; Cupped ribs; Delayed ossification of carpal bones; Delayed skeletal maturation; Disproportionate short stature; Disproportionate short-limb short stature; Distal symphalangism of hands; Dysplasia of the femoral head; Enlargement of the distal femoral epiphysis; Fibular overgrowth; Flared iliac wings; Flattened metatarsal heads; Genu varum; Heterogeneous; Hyperlordosis; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic iliac wing; Lumbar hyperlordosis; Micromelia; Narrow chest; Ovoid vertebral bodies; Pectus carinatum; Pectus excavatum; Proportionate shortening of all digits; Radial deviation of the 2nd finger; Radial deviation of the 3rd finger; Radial deviation of the 4th finger; Relative macrocephaly; Scoliosis; Short distal phalanx of finger; Short femoral neck; Short femur; Short foot; Short hallux; Short humerus; Short metacarpal; Short middle phalanx of finger; Short palm; Short proximal phalanx of finger; Short proximal phalanx of hallux; Short proximal phalanx of thumb; Short ribs; Short stature; Short thumb; Short tibia; Skeletal dysplasia; Slender metacarpals; Small nail; Thin proximal phalanges with broad epiphyses of the hand
INPPL111q13.4100%gene with protein product600829Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anterior rib cupping; Anteverted nares; Autosomal recessive inheritance; Bell-shaped thorax; Brachydactyly; Cryptorchidism; Delayed skeletal maturation; Depressed nasal bridge; Disproportionate short-limb short stature; Dolichocephaly; Edema; Fibular hypoplasia; Flat acetabular roof; Flat occiput; Frontal bossing; Generalized hypotonia; Hypertelorism; Hypoplastic ilia; Hypoplastic ischia; Hypoplastic pubic bone; Hypoplastic scapulae; Hypoplastic toenails; Hypoplastic vertebral bodies; Increased fibular diameter; Large fontanelles; Lateral clavicle hook; Long philtrum; Lymphedema; Macrocephaly; Malar flattening; Metaphyseal cupping; Micromelia; Muscular hypotonia; Narrow chest; Polyhydramnios; Posterior rib cupping; Protuberant abdomen; Recurrent respiratory infections; Respiratory insufficiency; Rhizomelia; Severe platyspondyly; Severe short stature; Short foot; Short long bone; Short neck; Short nose; Short palm; Short ribs; Squared iliac bones; Tapered finger
KIAA058614q23.195.7%gene with protein product610178Abnormality of eye movement; Abnormality of the pinna; Anencephaly; Aplastic clavicles; Apnea; Ataxia; Atrial septal defect; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar vermis hypoplasia; Cleft palate; Congenital diaphragmatic hernia; Depressed nasal bridge; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hyporeflexia; Intellectual disability; Long face; Low-set ears; Micromelia; Micropenis; Molar tooth sign on MRI; Muscular hypotonia; Narrow chest; Nystagmus; Oculomotor apraxia; Polyhydramnios; Polymicrogyria; Postaxial polydactyly; Preaxial polydactyly; Pulmonary hypoplasia; Retinal coloboma; Short neck; Short ribs; TachypneaShort-Rib Thoracic Dysplasia
KIF2216p11.2100%gene with protein product603213KNSL4Abnormal calcification of the carpal bones; Abnormality of the patella; Abnormality of the sacrum; Anteverted nares; Autosomal dominant inheritance; Broad distal phalanx of finger; Carpal bone hypoplasia; Caudal interpedicular narrowing; Congenital hip dislocation; Delayed patellar ossification; Delayed phalangeal epiphyseal ossification; Depressed nasal bridge; Dislocated radial head; Enlarged thorax; Flared metaphysis; Flat capital femoral epiphysis; Frontal bossing; Generalized hypotonia; Genu valgum; Global developmental delay; Hip dislocation; Hypoplasia of the capital femoral epiphysis; Irregular epiphyses; Irregular vertebral endplates; Joint hyperflexibility; Joint laxity; Kyphosis; Large joint dislocations; Laryngeal stenosis; Laryngotracheomalacia; Long distal phalanx of finger; Long proximal phalanx of finger; Macrocephaly; Malar flattening; Metaphyseal irregularity; Micromelia; Midface retrusion; Nail dysplasia; Narrow femoral neck; Osteoarthritis; Platyspondyly; Posterior scalloping of vertebral bodies; Scoliosis; Short nose; Short stature; Skeletal dysplasia; Slender distal phalanx of finger; Slender metacarpals; Slender proximal phalanx of finger; Small epiphyses; Soft skin; Spinal dysraphism; Spondyloepimetaphyseal dysplasia; Streaky metaphyseal sclerosis; Wide nose
KMT2A11q23.399.96%gene with protein product159555MLLAbnormally low-pitched voice; Aggressive behavior; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Blepharophimosis; Brachycephaly; Broad-based gait; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Elbow dislocation; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Flat face; Gastroesophageal reflux; Generalized hirsutism; Generalized hypotonia; High palate; Highly arched eyebrow; Hypertelorism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short middle phalanx of finger; Short neck; Short nose; Short stature; Short toe; Sleep disturbance; Small hand; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Wide nose; Widely spaced teeth
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
LIFR5p13.199.51%gene with protein product151443Abnormal metaphyseal trabeculation; Abnormality of dental enamel; Abnormality of vision; Absent patellar reflexes; Adducted thumb; Apnea; Asthma; Autosomal recessive inheritance; Blotching pigmentation of the skin; Broad ischia; Camptodactyly of finger; Contracture of the proximal interphalangeal joint of the 5th finger; Dysautonomia; Dysphagia; Elbow flexion contracture; Enlarged joints; Episodic fever; Feeding difficulties; Feeding difficulties in infancy; Femoral bowing; Flared metaphysis; Flexion contracture of toe; Frontal bossing; Generalized hypotonia; Genu valgum; Hoarse voice; Hyperhidrosis; Hypohidrosis; Hypoplastic iliac body; Impaired pain sensation; Intrauterine growth retardation; Knee flexion contracture; Lacrimation abnormality; Low-set ears; Malar flattening; Metaphyseal rarefaction; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Myotonia; Nasal speech; Oligohydramnios; Opacification of the corneal stroma; Osteopenia; Osteoporosis; Paresthesia; Pathologic fracture; Pulmonary arterial hypertension; Pulmonary arterial medial hypertrophy; Pulmonary hypoplasia; Pursed lips; Recurrent fractures; Respiratory distress; Respiratory insufficiency; Scoliosis; Short neck; Short nose; Short palpebral fissure; Short phalanx of finger; Short stature; Short tibia; Single transverse palmar crease; Skeletal dysplasia; Smooth tongue; Square face; Talipes; Talipes equinovarus; Talipes valgus; Thickened cortex of long bones; Thin ribs; Thin skin; Tibial bowing; Trismus; Ulnar deviation of finger; Wide nasal base
MATN32p24.1100%gene with protein product602109Arthralgia; Arthralgia of the hip; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowing of the legs; Broad femoral neck; Coxa vara; Delayed ossification of carpal bones; Delayed tarsal ossification; Disproportionate short-limb short stature; Dysplastic iliac wings; Epiphyseal dysplasia; Flat acetabular roof; Gait disturbance; Genu valgum; Heterogeneous; Hip dysplasia; Hypoplasia of the capital femoral epiphysis; Hypoplastic pubic bone; Irregular epiphyses; Joint stiffness; Limb undergrowth; Limited elbow extension; Lumbar hyperlordosis; Metaphyseal irregularity; Metaphyseal spurs; Metaphyseal widening; Micromelia; Multiple epiphyseal dysplasia; Narrow iliac wings; Osteoarthritis; Ovoid vertebral bodies; Platyspondyly; Posterior rib cupping; Premature osteoarthritis; Short femoral neck; Short long bone; Small epiphyses; Spondyloepimetaphyseal dysplasia; Thoracic hypoplasia; Waddling gait
NBAS2p24.399.99%gene with protein product608025Autosomal recessive inheritance; Brachycephaly; Brachydactyly; Cutis laxa; Epicanthus; Facial asymmetry; Fine hair; Long face; Long philtrum; Micromelia; Muscular hypotonia; Narrow forehead; Nonprogressive visual loss; Optic atrophy; Postnatal growth retardation; Prominent glabella; Proptosis; Reduced visual acuity; Sandal gap; Short neck; Short stature; Thick eyebrow; Thin vermilion border
NIPBL5p13.299.9%gene with protein product6086672-3 toe syndactyly; Abnormality of the umbilicus; Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dislocated radial head; Downturned corners of mouth; Duplication of internal organs; Ectopic kidney; Elbow dislocation; Elbow flexion contracture; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Hand oligodactyly; Hiatus hernia; High palate; High, narrow palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplastic labia majora; Hypoplastic male external genitalia; Hypoplastic nipples; Hypoplastic radial head; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow extension; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Malrotation of colon; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Phocomelia; Phthisis bulbi; Pneumonia; Premature birth; Proptosis; Proximal placement of thumb; Ptosis; Pyloric stenosis; Radioulnar synostosis; Reduced renal corticomedullary differentiation; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Short sternum; Single transverse palmar crease; Sleep disturbance; Small hand; Sporadic; Strabismus; Supernumerary ribs; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Thrombocytopenia; Toe syndactyly; Ventricular septal defect; Vesicoureteral reflux; Weak cry; Widely spaced teeth
NIPBL5p13.299.9%gene with protein product6086672-3 toe syndactyly; Abnormality of the umbilicus; Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Congenital diaphragmatic hernia; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Dislocated radial head; Downturned corners of mouth; Duplication of internal organs; Ectopic kidney; Elbow dislocation; Elbow flexion contracture; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Hand oligodactyly; Hiatus hernia; High palate; High, narrow palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplasia of the radius; Hypoplastic labia majora; Hypoplastic male external genitalia; Hypoplastic nipples; Hypoplastic radial head; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow extension; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Malrotation of colon; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Optic nerve coloboma; Phenotypic variability; Phocomelia; Phthisis bulbi; Pneumonia; Premature birth; Proptosis; Proximal placement of thumb; Ptosis; Pyloric stenosis; Radioulnar synostosis; Reduced renal corticomedullary differentiation; Seizures; Self-injurious behavior; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Short sternum; Single transverse palmar crease; Sleep disturbance; Small hand; Sporadic; Strabismus; Supernumerary ribs; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Thrombocytopenia; Toe syndactyly; Ventricular septal defect; Vesicoureteral reflux; Weak cry; Widely spaced teeth
OBSL12q35100%gene with protein product610991Abnormality of dental enamel; Abnormality of the elbow; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Broad forehead; Bulbous nose; Delayed eruption of teeth; Delayed skeletal maturation; Dolichocephaly; Enlarged thorax; Everted lower lip vermilion; Frontal bossing; Horizontal ribs; Hyperlordosis; Hypoplasia of the ulna; Hypoplastic ischia; Hypoplastic pelvis; Hypoplastic pubic bone; Increased vertebral height; Intrauterine growth retardation; Joint hyperflexibility; Long philtrum; Malar flattening; Micromelia; Midface retrusion; Pointed chin; Prominent nasal tip; Protruding ear; Rocker bottom foot; Scapular winging; Short neck; Short stature; Short thorax; Slender long bone; Thick eyebrow; Thin ribs; Triangular face
PAM1616p13.399.99%gene with protein product614336Anteverted nares; Autosomal recessive inheritance; Bell-shaped thorax; Cardiomegaly; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Frontal bossing; Global developmental delay; Hypoplastic ischia; Iliac crest serration; Large fontanelles; Low-set ears; Metaphyseal cupping; Micromelia; Microtia; Muscular hypotonia of the trunk; Narrow chest; Prominent forehead; Pulmonary arterial hypertension; Round face; Severe platyspondyly; Short long bone; Short neck; Short nose; Short ribs; Short stature; Small for gestational age; Spondylometaphyseal dysplasia; Squared iliac bones; Tachypnea; Wide nose; Wormian bones
PCNT21q22.3100%gene with protein product605925PCNT2Abnormality of dental enamel; Abnormality of epiphysis morphology; Abnormality of female external genitalia; Abnormality of the metaphysis; Absent earlobe; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines; Autosomal recessive inheritance; Brachydactyly; Cachexia; Cafe-au-lait spot; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Convex nasal ridge; Coxa vara; Craniosynostosis; Delayed skeletal maturation; Dilatation of the cerebral artery; Disproportionate short stature; Downslanted palpebral fissures; Dry skin; Fine hair; Flared metaphysis; Full cheeks; Glaucoma; Global developmental delay; High pitched voice; Hip dysplasia; Hypermetropia; Hypopigmented skin patches; Hypoplasia of dental enamel; Hypoplastic iliac wing; Hypospadias; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Low-set ears; Microcephaly; Microdontia; Micrognathia; Micromelia; Microtia; Mild global developmental delay; Moyamoya phenomenon; Multiple cafe-au-lait spots; Narrow face; Narrow pelvis bone; Nasal speech; Postnatal growth retardation; Precocious puberty; Prematurely aged appearance; Prominent nasal bridge; Prominent nose; Proximal femoral epiphysiolysis; Pseudoepiphyses of the metacarpals; Radial bowing; Reduced number of teeth; Retrognathia; Sandal gap; Scoliosis; Sensorineural hearing impairment; Short 1st metacarpal; Short distal phalanx of finger; Short stature; Slender long bone; Sloping forehead; Sparse scalp hair; Tibial bowing; Truncal obesity; Type II diabetes mellitus; Ulnar bowing; Underdeveloped nasal alae; Upslanted palpebral fissure; Wide nasal bridgeObesity
PDE4D5q11.2-q12.199.75%gene with protein product600129DPDE3Abnormal form of the vertebral bodies; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autism; Autosomal dominant inheritance; Blue irides; Brachycephaly; Brachydactyly; Cerebral venous thrombosis; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congenital onset; Cryptorchidism; Delayed eruption of teeth; Delayed speech and language development; Depressed nasal bridge; Depressed nasal ridge; Diabetes mellitus; Elevated calcitonin; Elevated circulating parathyroid hormone level; Epiphyseal stippling; Fair hair; Global developmental delay; Growth hormone deficiency; Hearing impairment; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased intracranial pressure; Intellectual disability; Intrauterine growth retardation; Malar flattening; Mandibular prognathia; Micromelia; Midface retrusion; Mild short stature; Narrow vertebral interpedicular distance; Obesity; Open mouth; Peripheral neuropathy; Pseudohypoparathyroidism; Red hair; Round face; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short phalanx of finger; Short stature; Short toe; Specific learning disability; Spinal canal stenosis; Wide nasal bridgeObesity
PHGDH1p12100%gene with protein product606879Ablepharon; Abnormality of the philtrum; Absent eyelashes; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Bifid uterus; Broad foot; Calcaneovalgus deformity; Camptodactyly; Cataract; Cerebellar hypoplasia; Cerebral dysmyelination; Choroid plexus cyst; Cleft palate; Cleft upper lip; Clinodactyly; Congenital cataract; Congenital microcephaly; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Decreased testicular size; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Finger syndactyly; Generalized edema; Growth delay; Hydranencephaly; Hypertelorism; Hypogonadism; Hypsarrhythmia; Ichthyosis; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Lack of skin elasticity; Large hands; Lissencephaly; Macrogyria; Macrotia; Megaloblastic anemia; Microcephaly; Micrognathia; Micromelia; Microphthalmia; Muscle cramps; Muscular dystrophy; Nystagmus; Opisthotonus; Pachygyria; Patent ductus arteriosus; Patent foramen ovale; Polyhydramnios; Polymicrogyria; Proptosis; Pterygium; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Rocker bottom foot; Seizures; Short neck; Short umbilical cord; Skeletal muscle atrophy; Sloping forehead; Small placenta; Spastic tetraplegia; Spina bifida; Stillbirth; Thick lower lip vermilion; Thick vermilion border; Thrombocytopenia; Toe syndactyly; Transposition of the great arteries; Trismus; Ventricular septal defect; Yellow subcutaneous tissue covered by thin, scaly skinPalmoplantar keratoderma plus congenital ichthyosis
PRKAR1A17q24.2100%gene with protein product188830PRKAR1, TSE1Abnormal form of the vertebral bodies; Abnormal prolactin level; Abnormality of circulating adrenocorticotropin level; Abnormality of female external genitalia; Abnormality of immune system physiology; Abnormality of the eye; Abnormality of the nail; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Adrenal hyperplasia; Agitation; Anteverted nares; Anxiety; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bacterial endocarditis; Blue irides; Blue nevus; Brachycephaly; Brachydactyly; Broad nasal tip; Broad palm; Bruising susceptibility; Calvarial hyperostosis; Cardiac myxoma; Cerebral venous thrombosis; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped epiphysis; Congenital craniofacial dysostosis; Congenital hypothyroidism; Congestive heart failure; Cryptorchidism; Decreased circulating ACTH level; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Depressivity; Diabetes mellitus; Dislocated radial head; Disproportionate short-limb short stature; Easy fatigability; Elevated calcitonin; Elevated circulating parathyroid hormone level; Enlarged polycystic ovaries; Epicanthus; Epiphyseal stippling; Exertional dyspnea; Fatigue; Freckling; Global developmental delay; Growth hormone deficiency; Growth hormone excess; Hearing impairment; Heart murmur; Heterogeneous; Hirsutism; Hydrocephalus; Hyperactivity; Hyperphosphatemia; Hypertelorism; Hypertension; Hypocalcemia; Hypodontia; Hypogonadism; Hypoplasia of the maxilla; Hypoplasia of the nasal bone; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic vertebral bodies; Hypospadias; Increased circulating cortisol level; Increased intracranial pressure; Increased susceptibility to fractures; Increased urinary cortisol level; Intellectual disability; Intrauterine growth retardation; Kyphosis; Long hallux; Malar flattening; Mandibular prognathia; Melanocytic nevus; Menstrual irregularities; Mental deterioration; Micromelia; Midface retrusion; Mild postnatal growth retardation; Mild short stature; Mood changes; Multiple lentigines; Muscle weakness; Myxoid subcutaneous tumors; Narrow vertebral interpedicular distance; Neonatal epiphyseal stippling; Nevus; Obesity; Onset; Open mouth; Optic atrophy; Osteopenia; Osteoporosis; Paradoxical increased cortisol secretion on dexamethasone suppression test; Peripheral neuropathy; Peripheral Schwannoma; Pheochromocytoma; Pigmented micronodular adrenocortical disease; Pituitary adenoma; Pituitary growth hormone cell adenoma; Primary hypercorticolism; Profuse pigmented skin lesions; Pseudohypoparathyroidism; Psychosis; Pulmonic valve myxoma; Red hair; Round face; Schwannoma; Scoliosis; Short metacarpal; Short metatarsal; Short nose; Short palm; Short phalanx of finger; Short stature; Short toe; Skeletal muscle atrophy; Slender build; Specific learning disability; Spinal canal stenosis; Strabismus; Striae distensae; Thin skin; Thyroid adenoma; Thyroid carcinoma; Thyroid follicular hyperplasia; Truncal obesity; Vestibular Schwannoma; Wide nasal bridgeHeterotaxy ; Obesity
PTH1R3p21.3199.98%gene with protein product168468PTHR, PTHR1Abnormal trabecular bone morphology; Abnormality of epiphysis morphology; Abnormality of the acetabulum; Abnormality of the fingertips; Abnormality of the metaphysis; Absence of the sacrum; Accelerated skeletal maturation; Advanced ossification of carpal bones; Advanced tarsal ossification; Anteverted nares; Aplastic clavicles; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Brachycephaly; Broad clavicles; Broad foot; Broad palm; Cataract; Choanal atresia; Choanal stenosis; Clinodactyly of the 5th finger; Clubbing of fingers; Cubitus valgus; Delayed epiphyseal ossification; Depressed nasal bridge; Distal shortening of limbs; Elevated alkaline phosphatase; Epiphyseal dysplasia; Failure of eruption of permanent teeth; Fibular hypoplasia; Flared metaphysis; Generalized osteosclerosis; Hearing impairment; High iliac wings; Hip contracture; Hydrops fetalis; Hypercalcemia; Hypercalciuria; Hyperphosphaturia; Hypertelorism; Hypodontia; Hypoparathyroidism; Hypophosphatemia; Increased bone mineral density; Joint stiffness; Knee flexion contracture; Laryngeal calcification; Lethal skeletal dysplasia; Limited elbow flexion; Limited hip movement; Long philtrum; Low-set ears; Malar flattening; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal irregularity; Micrognathia; Micromelia; Misalignment of teeth; Multiple enchondromatosis; Narrow chest; Narrow pelvis bone; Natal tooth; Neonatal short-limb short stature; Nephrocalcinosis; Osteolysis; Osteopenia; Pathologic fracture; Persistence of primary teeth; Platyspondyly; Polyhydramnios; Premature birth; Prominent supraorbital arches in adult; Proptosis; Protruding tongue; Protuberant abdomen; Pulmonary hypoplasia; Rhizomelia; Severe short stature; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short toe; Skeletal dysplasia; Squared iliac bones; Stillbirth; Subcutaneous nodule; Synostosis of joints; Telecanthus; Thick skull base; Thin bony cortex; Visceral angiomatosis; Waddling gaitEctodermal Dysplasia
PTH1R3p21.3199.98%gene with protein product168468PTHR, PTHR1Abnormal trabecular bone morphology; Abnormality of epiphysis morphology; Abnormality of the acetabulum; Abnormality of the fingertips; Abnormality of the metaphysis; Absence of the sacrum; Accelerated skeletal maturation; Advanced ossification of carpal bones; Advanced tarsal ossification; Anteverted nares; Aplastic clavicles; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Brachycephaly; Broad clavicles; Broad foot; Broad palm; Cataract; Choanal atresia; Choanal stenosis; Clinodactyly of the 5th finger; Clubbing of fingers; Cubitus valgus; Delayed epiphyseal ossification; Depressed nasal bridge; Distal shortening of limbs; Elevated alkaline phosphatase; Epiphyseal dysplasia; Failure of eruption of permanent teeth; Fibular hypoplasia; Flared metaphysis; Generalized osteosclerosis; Hearing impairment; High iliac wings; Hip contracture; Hydrops fetalis; Hypercalcemia; Hypercalciuria; Hyperphosphaturia; Hypertelorism; Hypodontia; Hypoparathyroidism; Hypophosphatemia; Increased bone mineral density; Joint stiffness; Knee flexion contracture; Laryngeal calcification; Lethal skeletal dysplasia; Limited elbow flexion; Limited hip movement; Long philtrum; Low-set ears; Malar flattening; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal irregularity; Micrognathia; Micromelia; Misalignment of teeth; Multiple enchondromatosis; Narrow chest; Narrow pelvis bone; Natal tooth; Neonatal short-limb short stature; Nephrocalcinosis; Osteolysis; Osteopenia; Pathologic fracture; Persistence of primary teeth; Platyspondyly; Polyhydramnios; Premature birth; Prominent supraorbital arches in adult; Proptosis; Protruding tongue; Protuberant abdomen; Pulmonary hypoplasia; Rhizomelia; Severe short stature; Short foot; Short long bone; Short metacarpal; Short nose; Short palm; Short phalanx of finger; Short ribs; Short stature; Short thorax; Short toe; Skeletal dysplasia; Squared iliac bones; Stillbirth; Subcutaneous nodule; Synostosis of joints; Telecanthus; Thick skull base; Thin bony cortex; Visceral angiomatosis; Waddling gaitEctodermal Dysplasia
RAD218q24.1199.96%gene with protein product606462Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Exostoses; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phenotypic variability; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Smooth philtrum; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Wide nasal bridge; Widely spaced teeth
RMRP9p13.3RNA, miscXomeDxSlice is not appropriate.157660CHHAbnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of the hair; Abnormality of the hip bone; Abnormality of the immune system; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the vertebral column; Aganglionic megacolon; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Biconvex vertebral bodies; Blue sclerae; Brachydactyly; Cardiomyopathy; Cellular immunodeficiency; Cervical cord compression; Cervical subluxation; Chronic diarrhea; Cone-shaped epiphyses of the phalanges of the hand; Congenital hypoplastic anemia; Convex nasal ridge; Delayed ossification of carpal bones; Depressed nasal bridge; Desquamation of skin soon after birth; Diaphyseal thickening; Dry skin; Edema; EEG abnormality; Eosinophilia; Erythroderma; Esophageal atresia; Failure to thrive; Fair hair; Femoral bowing; Fever; Fine hair; Flared metaphysis; Flaring of lower rib cage; Genu varum; Gingival overgrowth; Hepatomegaly; High hypermetropia; Hyperlordosis; Hypertelorism; Hypocalcemia; Hypodontia; Hypoplastic ilia; Impaired lymphocyte transformation with phytohemagglutinin; Intellectual disability; J-shaped sella turcica; Joint hypermobility; Joint laxity; Large face; Limited elbow extension; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Lymphadenopathy; Lymphopenia; Macrocytic anemia; Malabsorption; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal cupping of metacarpals; Metaphyseal dysplasia; Metaphyseal irregularity; Metaphyseal widening; Micromelia; Mucopolysacchariduria; Muscular hypotonia; Myopia; Narrow chest; Narrow vertebral interpedicular distance; Neonatal short-limb short stature; Neoplasm of the skin; Neutropenia; Platyspondyly; Pneumonia; Prominent forehead; Pruritus; Reduced tendon reflexes; Respiratory insufficiency; Rhizomelia; Scoliosis; Severe combined immunodeficiency; Severe short stature; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short toe; Small epiphyses; Sparse and thin eyebrow; Sparse eyelashes; Sparse facial hair; Sparse hair; Spinal dysraphism; Splenomegaly; Strabismus; Susceptibility to chickenpox; Thickened skin; Tibial bowing; Tracheal stenosis; Visual impairment
RMRP9p13.3RNA, miscXomeDxSlice is not appropriate.157660CHHAbnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of the hair; Abnormality of the hip bone; Abnormality of the immune system; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the vertebral column; Aganglionic megacolon; Alopecia; Aplasia/Hypoplasia of the eyebrow; Autosomal recessive inheritance; Biconvex vertebral bodies; Blue sclerae; Brachydactyly; Cardiomyopathy; Cellular immunodeficiency; Cervical cord compression; Cervical subluxation; Chronic diarrhea; Cone-shaped epiphyses of the phalanges of the hand; Congenital hypoplastic anemia; Convex nasal ridge; Delayed ossification of carpal bones; Depressed nasal bridge; Desquamation of skin soon after birth; Diaphyseal thickening; Dry skin; Edema; EEG abnormality; Eosinophilia; Erythroderma; Esophageal atresia; Failure to thrive; Fair hair; Femoral bowing; Fever; Fine hair; Flared metaphysis; Flaring of lower rib cage; Genu varum; Gingival overgrowth; Hepatomegaly; High hypermetropia; Hyperlordosis; Hypertelorism; Hypocalcemia; Hypodontia; Hypoplastic ilia; Impaired lymphocyte transformation with phytohemagglutinin; Intellectual disability; J-shaped sella turcica; Joint hypermobility; Joint laxity; Large face; Limited elbow extension; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Lymphadenopathy; Lymphopenia; Macrocytic anemia; Malabsorption; Mesomelia; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal cupping of metacarpals; Metaphyseal dysplasia; Metaphyseal irregularity; Metaphyseal widening; Micromelia; Mucopolysacchariduria; Muscular hypotonia; Myopia; Narrow chest; Narrow vertebral interpedicular distance; Neonatal short-limb short stature; Neoplasm of the skin; Neutropenia; Platyspondyly; Pneumonia; Prominent forehead; Pruritus; Reduced tendon reflexes; Respiratory insufficiency; Rhizomelia; Scoliosis; Severe combined immunodeficiency; Severe short stature; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short toe; Small epiphyses; Sparse and thin eyebrow; Sparse eyelashes; Sparse facial hair; Sparse hair; Spinal dysraphism; Splenomegaly; Strabismus; Susceptibility to chickenpox; Thickened skin; Tibial bowing; Tracheal stenosis; Visual impairment
RNU4ATAC2q14.2RNA, small nuclearXomeDxSlice is not appropriate.60142811 pairs of ribs; Abnormal form of the vertebral bodies; Abnormal vertebral ossification; Abnormality of calcium-phosphate metabolism; Abnormality of retinal pigmentation; Abnormality of the intervertebral disk; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the tragus; Absence seizures; Absent knee epiphyses; Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Aplasia/hypoplasia of the femur; Aplastic clavicles; Arthralgia; Atrial septal defect; Autosomal recessive inheritance; Biconvex vertebral bodies; Bifid femur; Bifid uvula; Bilateral single transverse palmar creases; Bowed humerus; Brachydactyly; Broad distal phalanx of finger; Bulbous nose; Cleft vertebral arch; Clinodactyly of the 5th finger; Coarctation of aorta; Coxa vara; Cryptorchidism; Delayed skeletal maturation; Disproportionate short stature; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Dry skin; Dyspnea; Elbow dislocation; Elbow flexion contracture; Enlarged metaphyses; Eosinophilia; Epileptic spasms; Epiphyseal dysplasia; Failure to thrive; Femoral bowing; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatomegaly; Heterotopia; Hip contracture; Hip dislocation; Hydronephrosis; Hydroureter; Hyperkeratosis; Hypoplasia of the frontal lobes; Hypoplastic ilia; Hypotrichosis; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Irregular epiphyses; Irregular femoral epiphysis; Irregular vertebral endplates; Knee flexion contracture; Large hands; Large iliac wings; Long clavicles; Long foot; Long nose; Long palpebral fissure; Loss of eyelashes; Low-set ears; Lymphadenopathy; Malar flattening; Microcephaly; Micrognathia; Micromelia; Micropenis; Microtia; Muscle stiffness; Nystagmus; Oligohydramnios; Osteomalacia; Osteopenia; Osteoporosis; Pachygyria; Platyspondyly; Posteriorly rotated ears; Premature birth; Prolonged neonatal jaundice; Prominent nose; Prominent occiput; Proptosis; Recurrent otitis media; Recurrent pneumonia; Renal cyst; Renal hypoplasia; Respiratory failure; Retrognathia; Rickets; Rigidity; Seizures; Severe short stature; Short femur; Short humerus; Short metacarpal; Short neck; Short palm; Short stature; Short toe; Shoulder flexion contracture; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Specific learning disability; Splenomegaly; Spondyloepiphyseal dysplasia; Status epilepticus; Stillbirth; Submucous cleft hard palate; Tetralogy of Fallot; Thick vermilion border; Thickened nuchal skin fold; Thin eyebrow; Underdeveloped nasal alae
RNU4ATAC2q14.2RNA, small nuclearXomeDxSlice is not appropriate.60142811 pairs of ribs; Abnormal form of the vertebral bodies; Abnormal vertebral ossification; Abnormality of calcium-phosphate metabolism; Abnormality of retinal pigmentation; Abnormality of the intervertebral disk; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the tragus; Absence seizures; Absent knee epiphyses; Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Aplasia/hypoplasia of the femur; Aplastic clavicles; Arthralgia; Atrial septal defect; Autosomal recessive inheritance; Biconvex vertebral bodies; Bifid femur; Bifid uvula; Bilateral single transverse palmar creases; Bowed humerus; Brachydactyly; Broad distal phalanx of finger; Bulbous nose; Cleft vertebral arch; Clinodactyly of the 5th finger; Coarctation of aorta; Coxa vara; Cryptorchidism; Delayed skeletal maturation; Disproportionate short stature; Dolichocephaly; Downslanted palpebral fissures; Downturned corners of mouth; Dry skin; Dyspnea; Elbow dislocation; Elbow flexion contracture; Enlarged metaphyses; Eosinophilia; Epileptic spasms; Epiphyseal dysplasia; Failure to thrive; Femoral bowing; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatomegaly; Heterotopia; Hip contracture; Hip dislocation; Hydronephrosis; Hydroureter; Hyperkeratosis; Hypoplasia of the frontal lobes; Hypoplastic ilia; Hypotrichosis; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Irregular epiphyses; Irregular femoral epiphysis; Irregular vertebral endplates; Knee flexion contracture; Large hands; Large iliac wings; Long clavicles; Long foot; Long nose; Long palpebral fissure; Loss of eyelashes; Low-set ears; Lymphadenopathy; Malar flattening; Microcephaly; Micrognathia; Micromelia; Micropenis; Microtia; Muscle stiffness; Nystagmus; Oligohydramnios; Osteomalacia; Osteopenia; Osteoporosis; Pachygyria; Platyspondyly; Posteriorly rotated ears; Premature birth; Prolonged neonatal jaundice; Prominent nose; Prominent occiput; Proptosis; Recurrent otitis media; Recurrent pneumonia; Renal cyst; Renal hypoplasia; Respiratory failure; Retrognathia; Rickets; Rigidity; Seizures; Severe short stature; Short femur; Short humerus; Short metacarpal; Short neck; Short palm; Short stature; Short toe; Shoulder flexion contracture; Single transverse palmar crease; Sloping forehead; Small anterior fontanelle; Sparse and thin eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Specific learning disability; Splenomegaly; Spondyloepiphyseal dysplasia; Status epilepticus; Stillbirth; Submucous cleft hard palate; Tetralogy of Fallot; Thick vermilion border; Thickened nuchal skin fold; Thin eyebrow; Underdeveloped nasal alae
SERPINH111q13.5100%gene with protein product600943CBP1, CBP2, SERPINH2Autosomal recessive inheritance; Blue sclerae; Broad ribs; Chronic lung disease; Dentinogenesis imperfecta; Generalized hypotonia; Generalized joint laxity; Genu valgum; High forehead; High pitched voice; Inguinal hernia; Joint laxity; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Narrow chest; Narrow forehead; Nephrolithiasis; Osteopenia; Platyspondyly; Prominent forehead; Pyloric stenosis; Relative macrocephaly; Scoliosis; Shallow orbits; Short stature; Thin ribs; Triangular face; Vertebral compression fractures
SETD53p25.3100%gene with protein product615743Abnormally low-pitched voice; Anteverted nares; Anxiety; Astigmatism; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Clinodactyly of the 5th finger; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Downturned corners of mouth; Drooling; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Premature birth; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Scoliosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Strabismus; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Upslanted palpebral fissure; Vesicoureteral reflux; Widely spaced teeth
SHOXXp22.33 and 100%gene with protein product312865, 400020Abnormality of calvarial morphology; Abnormality of epiphysis morphology; Abnormality of femur morphology; Abnormality of the carpal bones; Abnormality of the hip bone; Abnormality of the humerus; Abnormality of the metaphysis; Abnormality of the ulna; Aplasia/Hypoplasia of the fibula; Aplastic/hypoplastic toenail; Bowing of the long bones; Brachydactyly; Clinodactyly of the 5th finger; Cone-shaped epiphysis; Cubitus valgus; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dorsal subluxation of ulna; Elbow dislocation; Episodic ketoacidosis; Exostoses; Forearm undergrowth; Genu valgum; Genu varum; High palate; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic fingernail; Joint stiffness; Limited wrist movement; Lower limb undergrowth; Madelung deformity; Mesomelia; Mesomelic/rhizomelic limb shortening; Micrognathia; Micromelia; Obesity; Patellar aplasia; Radial bowing; Scoliosis; Severe short stature; Short femoral neck; Short foot; Short neck; Short stature; Short tibia; Skeletal muscle hypertrophy; Tibial bowing; Ulnar bowing; Ulnar deviation of finger; Ulnar radial head dislocation; Wide nasal bridge
SHOXXp22.33 and 100%gene with protein product312865, 400020Abnormality of calvarial morphology; Abnormality of epiphysis morphology; Abnormality of femur morphology; Abnormality of the carpal bones; Abnormality of the hip bone; Abnormality of the humerus; Abnormality of the metaphysis; Abnormality of the ulna; Aplasia/Hypoplasia of the fibula; Aplastic/hypoplastic toenail; Bowing of the long bones; Brachydactyly; Clinodactyly of the 5th finger; Cone-shaped epiphysis; Cubitus valgus; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dorsal subluxation of ulna; Elbow dislocation; Episodic ketoacidosis; Exostoses; Forearm undergrowth; Genu valgum; Genu varum; High palate; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplastic fingernail; Joint stiffness; Limited wrist movement; Lower limb undergrowth; Madelung deformity; Mesomelia; Mesomelic/rhizomelic limb shortening; Micrognathia; Micromelia; Obesity; Patellar aplasia; Radial bowing; Scoliosis; Severe short stature; Short femoral neck; Short foot; Short neck; Short stature; Short tibia; Skeletal muscle hypertrophy; Tibial bowing; Ulnar bowing; Ulnar deviation of finger; Ulnar radial head dislocation; Wide nasal bridge
SLC26A25q32100%gene with protein product606718DTDAbdominal distention; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the clavicle; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the patella; Abnormality of the ribs; Absent or minimally ossified vertebral bodies; Anteverted nares; Aplasia/Hypoplasia of the lungs; Arthralgia; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Brachydactyly; Breech presentation; Camptodactyly of finger; Cervical kyphosis; Cleft palate; Clinodactyly of the 5th finger; Coronal cleft vertebrae; Costal cartilage calcification; Cystic lesions of the pinnae; Depressed nasal bridge; Disproportionate short stature; Disproportionate short-limb short stature; Dumbbell-shaped femur; Edema; Epiphyseal dysplasia; Femoral hernia; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Frontal bossing; Full cheeks; Glabellar hemangioma; Hearing impairment; Hip contracture; Hip dysplasia; Hitchhiker thumb; Hoarse voice; Horizontal sacrum; Hydrops fetalis; Hypertelorism; Hypertrophic auricular cartilage; Hypoplasia of the femoral head; Hypoplastic cervical vertebrae; Hypoplastic ilia; Increased bone mineral density; Inguinal hernia; Intrauterine growth retardation; Irregular epiphyses; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Laryngotracheal stenosis; Lethal skeletal dysplasia; Limited elbow flexion; Long philtrum; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow chest; Neonatal short-limb short stature; Osteoarthritis; Overfolded helix; Platyspondyly; Polyhydramnios; Proximal placement of thumb; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Sandal gap; Scoliosis; Severe short stature; Short finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short neck; Short nose; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Small hand; Spinal cord compression; Stillbirth; Symphalangism affecting the phalanges of the hand; Talipes equinovarus; Thickened nuchal skin fold; Thoracic hypoplasia; Ulnar deviation of finger; Umbilical herniaShort-Rib Thoracic Dysplasia
SLC26A25q32100%gene with protein product606718DTDAbdominal distention; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the clavicle; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the patella; Abnormality of the ribs; Absent or minimally ossified vertebral bodies; Anteverted nares; Aplasia/Hypoplasia of the lungs; Arthralgia; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Brachydactyly; Breech presentation; Camptodactyly of finger; Cervical kyphosis; Cleft palate; Clinodactyly of the 5th finger; Coronal cleft vertebrae; Costal cartilage calcification; Cystic lesions of the pinnae; Depressed nasal bridge; Disproportionate short stature; Disproportionate short-limb short stature; Dumbbell-shaped femur; Edema; Epiphyseal dysplasia; Femoral hernia; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Frontal bossing; Full cheeks; Glabellar hemangioma; Hearing impairment; Hip contracture; Hip dysplasia; Hitchhiker thumb; Hoarse voice; Horizontal sacrum; Hydrops fetalis; Hypertelorism; Hypertrophic auricular cartilage; Hypoplasia of the femoral head; Hypoplastic cervical vertebrae; Hypoplastic ilia; Increased bone mineral density; Inguinal hernia; Intrauterine growth retardation; Irregular epiphyses; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Laryngotracheal stenosis; Lethal skeletal dysplasia; Limited elbow flexion; Long philtrum; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow chest; Neonatal short-limb short stature; Osteoarthritis; Overfolded helix; Platyspondyly; Polyhydramnios; Proximal placement of thumb; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Sandal gap; Scoliosis; Severe short stature; Short finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short neck; Short nose; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Small hand; Spinal cord compression; Stillbirth; Symphalangism affecting the phalanges of the hand; Talipes equinovarus; Thickened nuchal skin fold; Thoracic hypoplasia; Ulnar deviation of finger; Umbilical herniaShort-Rib Thoracic Dysplasia
SLC26A25q32100%gene with protein product606718DTDAbdominal distention; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the clavicle; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the patella; Abnormality of the ribs; Absent or minimally ossified vertebral bodies; Anteverted nares; Aplasia/Hypoplasia of the lungs; Arthralgia; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Brachydactyly; Breech presentation; Camptodactyly of finger; Cervical kyphosis; Cleft palate; Clinodactyly of the 5th finger; Coronal cleft vertebrae; Costal cartilage calcification; Cystic lesions of the pinnae; Depressed nasal bridge; Disproportionate short stature; Disproportionate short-limb short stature; Dumbbell-shaped femur; Edema; Epiphyseal dysplasia; Femoral hernia; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Frontal bossing; Full cheeks; Glabellar hemangioma; Hearing impairment; Hip contracture; Hip dysplasia; Hitchhiker thumb; Hoarse voice; Horizontal sacrum; Hydrops fetalis; Hypertelorism; Hypertrophic auricular cartilage; Hypoplasia of the femoral head; Hypoplastic cervical vertebrae; Hypoplastic ilia; Increased bone mineral density; Inguinal hernia; Intrauterine growth retardation; Irregular epiphyses; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Laryngotracheal stenosis; Lethal skeletal dysplasia; Limited elbow flexion; Long philtrum; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow chest; Neonatal short-limb short stature; Osteoarthritis; Overfolded helix; Platyspondyly; Polyhydramnios; Proximal placement of thumb; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Sandal gap; Scoliosis; Severe short stature; Short finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short neck; Short nose; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Small hand; Spinal cord compression; Stillbirth; Symphalangism affecting the phalanges of the hand; Talipes equinovarus; Thickened nuchal skin fold; Thoracic hypoplasia; Ulnar deviation of finger; Umbilical herniaShort-Rib Thoracic Dysplasia
SLC26A25q32100%gene with protein product606718DTDAbdominal distention; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormality of epiphysis morphology; Abnormality of metabolism/homeostasis; Abnormality of the clavicle; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the patella; Abnormality of the ribs; Absent or minimally ossified vertebral bodies; Anteverted nares; Aplasia/Hypoplasia of the lungs; Arthralgia; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Brachydactyly; Breech presentation; Camptodactyly of finger; Cervical kyphosis; Cleft palate; Clinodactyly of the 5th finger; Coronal cleft vertebrae; Costal cartilage calcification; Cystic lesions of the pinnae; Depressed nasal bridge; Disproportionate short stature; Disproportionate short-limb short stature; Dumbbell-shaped femur; Edema; Epiphyseal dysplasia; Femoral hernia; Flat acetabular roof; Flat capital femoral epiphysis; Flat face; Flattened epiphysis; Frontal bossing; Full cheeks; Glabellar hemangioma; Hearing impairment; Hip contracture; Hip dysplasia; Hitchhiker thumb; Hoarse voice; Horizontal sacrum; Hydrops fetalis; Hypertelorism; Hypertrophic auricular cartilage; Hypoplasia of the femoral head; Hypoplastic cervical vertebrae; Hypoplastic ilia; Increased bone mineral density; Inguinal hernia; Intrauterine growth retardation; Irregular epiphyses; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Laryngotracheal stenosis; Lethal skeletal dysplasia; Limited elbow flexion; Long philtrum; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Macrocephaly; Malar flattening; Micrognathia; Micromelia; Midface retrusion; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow chest; Neonatal short-limb short stature; Osteoarthritis; Overfolded helix; Platyspondyly; Polyhydramnios; Proximal placement of thumb; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Sandal gap; Scoliosis; Severe short stature; Short finger; Short foot; Short long bone; Short metacarpal; Short middle phalanx of finger; Short neck; Short nose; Short ribs; Short sacroiliac notch; Short stature; Short thorax; Small hand; Spinal cord compression; Stillbirth; Symphalangism affecting the phalanges of the hand; Talipes equinovarus; Thickened nuchal skin fold; Thoracic hypoplasia; Ulnar deviation of finger; Umbilical herniaShort-Rib Thoracic Dysplasia
SLC35D11p31.397.11%gene with protein product610804Abnormality of the fingernails; Advanced ossification of carpal bones; Advanced tarsal ossification; Anterior rib cupping; Autosomal recessive inheritance; Brachydactyly; Cleft palate; Cryptorchidism; Disproportionate short-limb short stature; Dolichocephaly; Dumbbell-shaped long bone; Fibular hypoplasia; Flat acetabular roof; Hypoplastic ilia; Hypoplastic scapulae; Hypoplastic toenails; Hypoplastic vertebral bodies; Increased fibular diameter; Lateral clavicle hook; Lymphedema; Macrocephaly; Malar flattening; Metaphyseal irregularity; Micromelia; Midface retrusion; Narrow chest; Ovoid vertebral bodies; Polyhydramnios; Short neck; Short ribs; Snail-like ilia; Stillbirth
SMC1AXp11.2299.82%gene with protein product300040SMC1L1Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Clinodactyly; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Narrow forehead; Neurological speech impairment; Obsessive-compulsive behavior; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Smooth philtrum; Synophrys; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Ventriculomegaly; Vesicoureteral reflux; Widely spaced teeth; X-linked dominant inheritance; X-linked recessive inheritance
SMC310q25.299.98%gene with protein product606062CSPG6Abnormal cardiac septum morphology; Abnormally low-pitched voice; Anteverted nares; Anxiety; Atresia of the external auditory canal; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Bilateral single transverse palmar creases; Blepharitis; Brachycephaly; Brachydactyly; Bulbous nose; Clinodactyly of the 5th finger; Cognitive impairment; Conductive hearing impairment; Cryptorchidism; Curly eyelashes; Cutis marmorata; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Downturned corners of mouth; Elbow dislocation; Failure to thrive; Feeding difficulties in infancy; Gastroesophageal reflux; Generalized hirsutism; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hypertonia; Hypoplasia of penis; Hypoplastic labia majora; Hypoplastic nipples; Hypospadias; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Limited elbow movement; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Micromelia; Multicystic kidney dysplasia; Myopia; Neurological speech impairment; Obsessive-compulsive behavior; Phenotypic variability; Phthisis bulbi; Poor speech; Premature birth; Prominent nasal bridge; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Radioulnar synostosis; Sensorineural hearing impairment; Severe postnatal growth retardation; Short 1st metacarpal; Short foot; Short neck; Short nose; Short stature; Sleep disturbance; Small hand; Synophrys; Thick eyebrow; Thick hair; Thin upper lip vermilion; Thin vermilion border; Toe syndactyly; Vesicoureteral reflux; Widely spaced teeth
TCTN310q24.1100%gene with protein product613847C10orf61Abnormal oral frenulum morphology; Abnormality of eye movement; Abnormality of the gingiva; Abnormality of the tongue; Absent testis; Accessory oral frenulum; Aplasia/Hypoplasia of the tibia; Autosomal recessive inheritance; Bifid uvula; Brachydactyly; Camptodactyly; Camptodactyly of finger; Cerebral atrophy; Cerebral cortical hemiatrophy; Choanal atresia; Cleft palate; Clinodactyly; Conductive hearing impairment; Decreased testicular size; Depressed nasal ridge; Epicanthus; Failure to thrive; Feeding difficulties; Finger syndactyly; Foot polydactyly; Genu varum; Global developmental delay; Hamartoma; Hamartoma of tongue; Hand polydactyly; High palate; High, narrow palate; Horseshoe kidney; Hypertelorism; Intellectual disability; Intrauterine growth retardation; Joint dislocation; Joint laxity; Kyphoscoliosis; Laryngomalacia; Lobulated tongue; Low-set ears; Median cleft lip; Microcephaly; Micrognathia; Micromelia; Microtia, third degree; Molar tooth sign on MRI; Monorchism; Oligohydramnios; Oral synechia; Pectus excavatum; Phenotypic variability; Polydactyly; Porencephalic cyst; Postaxial hand polydactyly; Posteriorly rotated ears; Preaxial hand polydactyly; Proptosis; Recurrent respiratory infections; Retrognathia; Severe short stature; Short finger; Short nose; Short stature; Short tibia; Specific learning disability; Split hand; Subcortical cerebral atrophy; Submucous cleft hard palate; Toe syndactyly; Tongue nodules; Ventricular septal defect; Wide noseDisorders of Sex Development; Heterotaxy ; Short-Rib Thoracic Dysplasia
TRIP1114q32.12100%gene with protein product604505Abdominal distention; Abnormal enchondral ossification; Abnormal foot bone ossification; Abnormal hand bone ossification; Abnormality of the femoral metaphysis; Anteverted nares; Aplasia/Hypoplasia of the lungs; Autosomal recessive inheritance; Barrel-shaped chest; Beaded ribs; Broad clavicles; Decreased skull ossification; Depressed nasal bridge; Disproportionate short-trunk short stature; Femoral hernia; Flat face; Frontal bossing; Hydrops fetalis; Hypoplasia of the radius; Hypoplastic ischia; Hypoplastic scapulae; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Multiple rib fractures; Narrow chest; Polyhydramnios; Protuberant abdomen; Recurrent fractures; Severe short stature; Short clavicles; Short foot; Short neck; Short nose; Short palm; Short ribs; Short thorax; Stillbirth; Thickened nuchal skin fold; Umbilical hernia; Unossified vertebral bodies
TRIP1114q32.12100%gene with protein product604505<