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Phenotypes
Abnormality of the metaphysis

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCC912p12.1100%gene with protein product601439Abnormality of the hand; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Blepharophimosis; Broad first metatarsal; Broad hallux; Broad hallux phalanx; Broad ribs; Bulbous nose; Cardiomegaly; Coarse facial features; Congenital hypertrophy of left ventricle; Congenital, generalized hypertrichosis; Coxa valga; Craniofacial hyperostosis; Cuboid-shaped vertebral bodies; Curly eyelashes; Deep plantar creases; Delayed skeletal maturation; Depressed nasal bridge; Dilated cardiomyopathy; Epicanthus; Erlenmeyer flask deformity of the femurs; Everted lower lip vermilion; Furrowed tongue; Generalized hirsutism; Gingival overgrowth; Highly arched eyebrow; Hypertelorism; Hypoplastic ischiopubic rami; Intellectual disability, mild; Joint hyperflexibility; Large for gestational age; Large hands; Large sella turcica; Long eyelashes; Long nose; Long philtrum; Low anterior hairline; Low posterior hairline; Lymphedema; Macrocephaly; Macroglossia; Metaphyseal widening; Micrognathia; Narrow chest; Osteoporosis; Ovoid vertebral bodies; Palpebral edema; Paroxysmal atrial fibrillation; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Prominent forehead; Prominent supraorbital ridges; Short distal phalanx of finger; Short hallux; Short neck; Skeletal dysplasia; Sloping forehead; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thick upper lip vermilion; Thick vermilion border; Thickened skin; Umbilical hernia; Wide mouth; Wide nasal bridge; Widened posterior fossa
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
AMER1Xq11.2100%gene with protein product300647FAM123BAbnormality of the metaphysis; Apnea; Arachnodactyly; Atrial septal defect; Bifid uvula; Broad ribs; Camptodactyly; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Conductive hearing impairment; Craniofacial osteosclerosis; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Epicanthus; Facial hyperostosis; Facial palsy; Failure to thrive; Fibular aplasia; Fibular hypoplasia; Flat occiput; Flexion contracture of toe; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; High iliac wings; High, narrow palate; Hydrocephalus; Hypertelorism; Intellectual disability, mild; Intestinal malrotation; Joint contracture of the hand; Large fontanelles; Large iliac wings; Laryngeal web; Low-set ears; Macrocephaly; Micrognathia; Microtia; Narrow forehead; Nasal speech; Natal tooth; Oligohydramnios; Osteopathia striata; Osteopetrosis; Overfolded helix; Paranasal sinus hypoplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pectus excavatum; Pierre-Robin sequence; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Rough bone trabeculation; Sclerosis of skull base; Scoliosis; Seizures; Short stature; Spina bifida occulta; Straight clavicles; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened calvaria; Thoracolumbar kyphosis; Tracheomalacia; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide nasal bridge; X-linked dominant inheritance
ANKH5p15.2100%gene with protein product605145CCAL2, CMDJAbnormality of pelvic girdle bone morphology; Abnormality of the intervertebral disk; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the vertebral column; Adult onset; Arthralgia; Arthritis; Arthropathy; Autosomal dominant inheritance; Bony paranasal bossing; Calcification of cartilage; Calvarial osteosclerosis; Club-shaped distal femur; Craniofacial hyperostosis; Depressed nasal bridge; Erlenmeyer flask deformity of the femurs; Facial palsy; Hypertelorism; Joint swelling; Macrocephaly; Mandibular prognathia; Metaphyseal widening; Misalignment of teeth; Mixed hearing impairment; Nasal obstruction; Osteoarthritis; Osteopetrosis; Polyarticular chondrocalcinosis; Sclerosis of skull base; Skeletal dysplasia; Telecanthus; Wide nasal bridge
ANTXR12p13.398%gene with protein product606410Abnormal form of the vertebral bodies; Abnormality of metabolism/homeostasis; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral vasculature; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the palate; Alopecia; Anteverted nares; Autosomal recessive inheritance; Breast hypoplasia; Broad forehead; Delayed cranial suture closure; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Early balding; Everted lower lip vermilion; Frontal bossing; Glaucoma; Growth delay; High forehead; Hyperextensible skin; Hypertelorism; Hypoplastic nipples; Hypotrichosis; Joint hyperflexibility; Keratoconus; Long philtrum; Low-set ears; Mandibular prognathia; Micrognathia; Midface retrusion; Nystagmus; Optic atrophy; Palpebral edema; Prematurely aged appearance; Prominent scalp veins; Protruding ear; Short stature; Skin tags; Sparse and thin eyebrow; Sparse eyelashes; Thick lower lip vermilion; Thick nasal alae; Tubulointerstitial fibrosis; Umbilical hernia; Underdeveloped supraorbital ridges; Unerupted tooth; Visual impairment; Wide anterior fontanel
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
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
CANT117q25.3100%gene with protein product613165Abnormality of the eyelashes; Abnormality of the metaphysis; Accelerated skeletal maturation; Advanced ossification of carpal bones; Advanced tarsal ossification; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Autosomal recessive inheritance; Bell-shaped thorax; Bifid distal phalanx of the thumb; Blue sclerae; Brachydactyly; Broad femoral neck; Broad first metatarsal; Camptodactyly of finger; Clinodactyly of the 5th finger; Congenital glaucoma; Coxa valga; Coxa vara; Depressed nasal bridge; Disproportionate short-limb short stature; Elbow dislocation; Flat acetabular roof; Flattened epiphysis; Generalized hypotonia; Genu recurvatum; Genu varum; Glaucoma; Hyperlordosis; Hypotrichosis; Intellectual disability; Joint hyperflexibility; Joint laxity; Kyphosis; Low-set, posteriorly rotated ears; Malar flattening; Medial deviation of the foot; Metaphyseal widening; Microretrognathia; Midface retrusion; Motor delay; Myopia; Narrow chest; Narrow mouth; Obesity; Osteoarthritis; Osteoporosis; Partial duplication of the distal phalanx of the hallux; Patellar dislocation; Pes planus; Phalangeal dislocation; Platyspondyly; Proptosis; Proximal fibular overgrowth; Radioulnar dislocation; Radioulnar synostosis; Round face; Sandal gap; Scoliosis; Severe short stature; Short 1st metacarpal; Short femoral neck; Short metatarsal; Short neck; Short nose; Small hand; Talipes equinovarus; Variable expressivity; Ventricular septal defect; Waddling gaitObesity
CASR3q13.33-q21.100%gene with protein product601199HHC, HHC1Abdominal pain; Abnormal enzyme/coenzyme activity; Abnormal pattern of respiration; Abnormal renal physiology; Abnormality of calcium-phosphate metabolism; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the thyroid gland; Alopecia; Aminoaciduria; Anemia; Anxiety; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Calcinosis; Constipation; Cortical myoclonus; Depressivity; Dry skin; Dyspnea; Elevated C-reactive protein level; Elevated circulating parathyroid hormone level; EMG abnormality; Emotional lability; Failure to thrive; Fatigable weakness; Feeding difficulties in infancy; Generalized hypotonia; Hepatomegaly; Hypercalcemia; Hypercalciuria; Hypermagnesemia; Hypermagnesiuria; Hyperparathyroidism; Hyperphosphatemia; Hyperphosphaturia; Hypocalcemia; Hypocalciuria; Hypomagnesemia; Hypophosphatemia; Hypotension; Leukocytosis; Metaphyseal irregularity; Muscle cramps; Muscular hypotonia; Narrow chest; Nephrocalcinosis; Nephrolithiasis; Pancreatitis; Paresthesia; Polydipsia; Polyuria; Primary hyperparathyroidism; Recurrent fractures; Recurrent pancreatitis; Seizures; Short stature; Splenomegaly; Tachypnea; Tetany
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
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
CLCN716p13.3100%gene with protein product602727Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of pelvic girdle bone morphology; Abnormality of temperature regulation; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the vertebral endplates; Abnormality of visual evoked potentials; Anemia; Arthritis; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Chronic rhinitis; Craniosynostosis; Delayed eruption of teeth; Elevated serum acid phosphatase; Facial palsy; Facial paralysis; Fractures of the long bones; Frontal bossing; Generalized osteosclerosis; Genu valgum; Growth delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Heterogeneous; Hip osteoarthritis; Hydrocephalus; Joint dislocation; Juvenile onset; Lymphadenopathy; Macrocephaly; Mandibular osteomyelitis; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteoarthritis; Osteopetrosis; Otitis media; Pallor; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Reticulocytosis; Short distal phalanx of finger; Short stature; Splenomegaly; Tremor; Visual impairment; Visual loss
CLCN716p13.3100%gene with protein product602727Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of pelvic girdle bone morphology; Abnormality of temperature regulation; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the vertebral endplates; Abnormality of visual evoked potentials; Anemia; Arthritis; Aseptic necrosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Chronic rhinitis; Craniosynostosis; Delayed eruption of teeth; Elevated serum acid phosphatase; Facial palsy; Facial paralysis; Fractures of the long bones; Frontal bossing; Generalized osteosclerosis; Genu valgum; Growth delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Heterogeneous; Hip osteoarthritis; Hydrocephalus; Joint dislocation; Juvenile onset; Lymphadenopathy; Macrocephaly; Mandibular osteomyelitis; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteoarthritis; Osteopetrosis; Otitis media; Pallor; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Reticulocytosis; Short distal phalanx of finger; Short stature; Splenomegaly; Tremor; Visual impairment; Visual loss
COL10A16q22.1100%gene with protein product120110Abnormality of bone mineral density; Abnormality of the metaphysis; Autosomal dominant inheritance; Brachydactyly; Broad middle phalanx of finger; Coxa vara; Craniosynostosis; Diaphyseal thickening; Distal tibial bowing; Enlargement of the proximal femoral epiphysis; Femoral bowing; Frontal bossing; Genu varum; Hearing impairment; Hypercalcemia; Irregular acetabular roof; Irregular vertebral endplates; Limb undergrowth; Metaphyseal chondrodysplasia; Metaphyseal cupping of metacarpals; Metaphyseal cupping of proximal phalanges; Micrognathia; Mild short stature; Moderately short stature; Platyspondyly; Proximal femoral metaphyseal abnormality; Short distal phalanx of finger; Short middle phalanx of finger; Waddling gait
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
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
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
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
DNAJC215p13.299.87%gene with protein product617048Abnormality of skin pigmentation; Abnormality of the metaphysis; Anemia; Autosomal recessive inheritance; Bone marrow hypocellularity; Delayed skeletal maturation; Eczema; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Hyperkeratosis; Ichthyosis; Intellectual disability; Intrauterine growth retardation; Malabsorption; Neutropenia; Osteopenia; Pancytopenia; Recurrent infections; Short stature; ThrombocytopeniaBone Marrow Failure Syndromes
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
EED11q14.299.97%gene with protein product605984Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Accelerated skeletal maturation; Broad foot; Broad forehead; Broad thumb; Camptodactyly of finger; Deep philtrum; Deep-set nails; Feeding difficulties in infancy; Fine hair; Global developmental delay; Hoarse voice; Hypertelorism; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Joint stiffness; Large hands; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Micrognathia; Redundant skin; Retrognathia; Round face; Spasticity; Tall stature; Thin nail
EFL115q25.2100%gene with protein productFormer name = ETUD1617538EFTUD1Abnormality of the metaphysis; Anemia; Delayed skeletal maturation; Eczema; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Ichthyosis; Intellectual disability; Malabsorption; Neutropenia; Osteopenia; Recurrent infections; Short stature; Thrombocytopenia
EIF2AK32p11.299.85%gene with protein product604032Abnormal heart morphology; Abnormality of the metaphysis; Acute hepatic failure; Autosomal recessive inheritance; Barrel-shaped chest; Brachydactyly; Carpal bone hypoplasia; Chronic hepatic failure; Cone-shaped epiphyses of the phalanges of the hand; Coxa valga; Death in infancy; Dehydration; Delayed skeletal maturation; Depressed nasal bridge; Elevated hepatic transaminases; Enlarged thorax; Epicanthus; Epiphyseal dysplasia; Flattened epiphysis; Gait disturbance; Genu valgum; Global developmental delay; Glycosuria; Hepatomegaly; High forehead; High palate; Hip dislocation; Hip subluxation; Hyperglycemia; Hyperlordosis; Hypermetropia; Hypertelorism; Hypertonia; Hyperuricemia; Hypoplasia of the odontoid process; Infantile onset; Insulin-resistant diabetes mellitus; Intellectual disability; Intracerebral periventricular calcifications; Irregular carpal bones; Irregular tarsal ossification; Irregular vertebral endplates; Ivory epiphyses of the phalanges of the hand; Ivory epiphyses of the toes; Ketoacidosis; Microcephaly; Microdontia; Motor delay; Multiple epiphyseal dysplasia; Muscular hypotonia; Narrow iliac wings; Neutropenia; Osteopenia; Osteoporosis; Platyspondyly; Preauricular pit; Reduced pancreatic beta cells; Renal insufficiency; Renal tubular dysfunction; Short stature; Short thorax; Shortening of all middle phalanges of the fingers; Small epiphyses; Steatorrhea; Thin vermilion border; Transient neonatal diabetes mellitus; Triangular face; Type I diabetes mellitus; Upslanted palpebral fissure; Weight loss
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
EZH27q36.199.98%gene with protein product601573Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Absent septum pellucidum; Accelerated skeletal maturation; Autosomal dominant inheritance; Behavioral abnormality; Broad foot; Broad forehead; Broad thumb; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Clinodactyly; Coxa valga; Cryptorchidism; Cutis laxa; Deep philtrum; Deep-set nails; Delayed speech and language development; Depressed nasal bridge; Diastasis recti; Dilation of lateral ventricles; Dimple chin; Downslanted palpebral fissures; Dysarthria; Dysharmonic bone age; Epicanthus; Feeding difficulties in infancy; Fine hair; Flared femoral metaphysis; Flared humeral metaphysis; Generalized hypotonia; Global developmental delay; Hoarse voice; Hydrocele testis; Hypertelorism; Hypertonia; Hypoplastic iliac wing; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Inverted nipples; Joint contracture of the hand; Joint stiffness; Kyphosis; Large hands; Limited elbow extension; Limited knee extension; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Mandibular prognathia; Metatarsus adductus; Micrognathia; Overlapping toe; Pes cavus; Prominent fingertip pads; Radial deviation of finger; Redundant skin; Retrognathia; Round face; Scoliosis; Seizures; Short fourth metatarsal; Short ribs; Slurred speech; Sparse hair; Spasticity; Strabismus; Talipes equinovarus; Tall stature; Thin nail; Umbilical hernia
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
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
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
GJA16q22.31100%gene with protein product121014ODDD, GJAL2-4 toe cutaneous syndactyly; 3-4 toe syndactyly; 4-5 finger syndactyly; Abnormal blistering of the skin; Abnormal cortical bone morphology; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of the cerebral white matter; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the nasopharynx; Abnormality of the thorax; Absent middle phalanx of 5th finger; Alopecia; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the middle phalanges of the hand; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Bony paranasal bossing; Brachycephaly; Broad alveolar ridges; Broad columella; Broad long bones; Camptodactyly of finger; Carious teeth; Cataract; Cerebral calcification; Cleft palate; Cleft upper lip; Clinodactyly; Clinodactyly of the 5th finger; Club-shaped distal femur; Coarse facial features; Conductive hearing impairment; Congenital alopecia totalis; Congestive heart failure; Cranial hyperostosis; Craniofacial hyperostosis; Cubitus valgus; Curly hair; Cutaneous photosensitivity; Cyanosis; Delayed eruption of permanent teeth; Delayed eruption of teeth; Delayed skeletal maturation; Dental crowding; Dental malocclusion; Depressed nasal bridge; Diabetes mellitus; Downslanted palpebral fissures; Dry hair; Dry skin; Dysarthria; Dystrophic fingernails; Epicanthus; Epidermal acanthosis; Erythema; External ear malformation; Facial hyperostosis; Facial palsy; Failure to thrive; Fifth finger distal phalanx clinodactyly; Fine hair; Finger syndactyly; Fingernail dysplasia; First degree atrioventricular block; Flared metaphysis; Fragile nails; Frontal bossing; Gait disturbance; Generalized hyperkeratosis; Glaucoma; High forehead; High hypermetropia; Hip dislocation; Hyperactive deep tendon reflexes; Hypergranulosis; Hypermelanotic macule; Hyperreflexia; Hypertelorism; Hypoplasia of dental enamel; Hypoplasia of teeth; Hypoplasia of the maxilla; Hypoplastic aortic arch; Hypoplastic left heart; Hypotelorism; Hypotrichosis; Infantile onset; Inlet ventricular septal defect; Intellectual disability; Joint contracture of the 5th finger; Large earlobe; Long nose; Long philtrum; Low-set ears; Macrocephaly; Macrodontia of permanent maxillary central incisor; Mandibular prognathia; Median cleft lip; Metaphyseal dysplasia; Microcephaly; Microcornea; Microdontia; Micrognathia; Microphthalmia; Mild global developmental delay; Mixed hearing impairment; Muscle weakness; Myopia; Nail dysplasia; Narrow mouth; Narrow nasal bridge; Narrow nose; Nasal obstruction; Neurogenic bladder; Optic atrophy; Osteopetrosis; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Paraparesis; Patchy palmoplantar keratoderma; Patchy sclerosis of finger phalanx; Persistent pupillary membrane; Phenotypic variability; Premature loss of primary teeth; Premature loss of teeth; Primum atrial septal defect; Pulmonary arterial hypertension; Reduced number of teeth; Seizures; Selective tooth agenesis; Short 5th finger; Short foot; Short middle phalanx of the 5th finger; Short nose; Short palpebral fissure; Short stature; Skeletal dysplasia; Skin rash; Slow-growing hair; Small hand; Sparse eyelashes; Sparse hair; Spastic paraparesis; Spasticity; Telecanthus; Tetraparesis; Thin anteverted nares; Thin vermilion border; Toe syndactyly; Underdeveloped nasal alae; Vertebral hyperostosis; Visual impairment; Weight loss; Wide nasal bridgeHeterotaxy ; Palmoplantar keratoderma plus congenital ichthyosis
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
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
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
IFT1223q21.3-q22.199.99%gene with protein product606045WDR10Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the abdominal wall; Abnormality of the fingernails; Abnormality of the metaphysis; Anodontia; Anteverted nares; Autosomal recessive inheritance; Bicuspid aortic valve; Brachydactyly; Broad distal phalanges of all fingers; Broad toe; Chronic kidney disease; Clinodactyly; Craniosynostosis; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fibular hypoplasia; Fine hair; Finger syndactyly; Flattened epiphysis; Frontal bossing; Full cheeks; Hepatic cysts; Hepatic failure; Hepatic fibrosis; Hepatomegaly; High, narrow palate; Hypocalcemia; Hypodontia; Hypoplasia of dental enamel; Hypotelorism; Joint hyperflexibility; Joint laxity; Malformation of the hepatic ductal plate; Microdontia; Myopia; Narrow chest; Nystagmus; Osteoporosis; Pectus excavatum; Prominent occiput; Protuberant abdomen; Radial deviation of finger; Renal magnesium wasting; Retinal dystrophy; Rhizomelia; Sagittal craniosynostosis; Scaphocephaly; Short distal phalanx of finger; Short humerus; Short nail; Short ribs; Short toe; Single transverse palmar crease; Slow-growing hair; Sparse hair; Telecanthus; Thin nail; Tubulointerstitial nephritis; Wide nasal bridge; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
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
IFT4314q24.3100%gene with protein product614068C14orf179Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Broad nail; Craniosynostosis; Cutis laxa; Dolichocephaly; Dry skin; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Fine hair; Finger syndactyly; Frontal bossing; Hypodontia; Hypoplasia of teeth; Hypotelorism; Joint hyperflexibility; Joint laxity; Microdontia; Narrow chest; Nephronophthisis; Osteoporosis; Pectus excavatum; Prominent occiput; Rhizomelia; Short distal phalanx of finger; Short nail; Short stature; Sparse hair; Syndactyly; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
IFT5220q13.1299.95%gene with protein product617094C20orf9Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Carious teeth; Cone-shaped epiphyses of the phalanges of the hand; Craniosynostosis; Depressed nasal bridge; Dolichocephaly; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Flat acetabular roof; Frontal bossing; Full cheeks; High forehead; Hypermetropia; Hypodontia; Hypoplasia of the corpus callosum; Hypotelorism; Joint hyperflexibility; Limb undergrowth; Low-set ears; Microdontia; Midface retrusion; Motor delay; Narrow chest; Osteoporosis; Pectus excavatum; Prominent occiput; Respiratory distress; Rhizomelia; Sandal gap; Short distal phalanx of finger; Short metacarpal; Short metatarsal; Short stature; Sparse hair; Telecanthus; Wide nasal bridgeShort-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
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
KCNJ812p12.1100%gene with protein product600935Abnormality of the metaphysis; Anteverted nares; Broad hallux phalanx; Broad ribs; Cardiomegaly; Coarse facial features; Coxa valga; Cuboid-shaped vertebral bodies; Curly eyelashes; Deep plantar creases; Delayed skeletal maturation; Epicanthus; Generalized hirsutism; Intellectual disability, mild; Long eyelashes; Long philtrum; Low anterior hairline; Low posterior hairline; Macrocephaly; Narrow chest; Osteoporosis; Ovoid vertebral bodies; Patent ductus arteriosus; Platyspondyly; Prominent supraorbital ridges; Short distal phalanx of finger; Short hallux; Short neck; Skeletal dysplasia; Thick eyebrow; Thick vermilion border; Umbilical hernia; Wide mouth; Wide nasal bridge
LEMD312q14.399.93%gene with protein product607844Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Autosomal dominant inheritance; Bone pain; Complete duplication of the distal phalanges of the hand; Connective tissue nevi; Delayed speech and language development; Ectopic kidney; Failure to thrive; Flat occiput; Flexion contracture; Generalized hypopigmentation; Generalized osteosclerosis; Global developmental delay; Hoarse voice; Hyperostosis; Hyperpigmentation of the skin; Hypertelorism; Increased bone mineral density; Intellectual disability, mild; Intrauterine growth retardation; Joint stiffness; Microcephaly; Nevus; Osteopoikilosis; Papule; Progressive; Scleroderma; Short stature; Skeletal dysplasia; Specific learning disability; Sporadic; Subcutaneous nodule; Tremor
LMBR17q36.398.68%gene with protein product605522C7orf21-5 finger complete cutaneous syndactyly; 1-5 finger syndactyly; 2-3 toe syndactyly; 6 metacarpals; Abnormal heart morphology; Abnormality of epiphysis morphology; Abnormality of the face; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the wrist; Absent forearm; Absent hand; Absent metatarsal bone; Absent radius; Absent tibia; Absent toe; Aplasia of metacarpal bones; Aplasia of the phalanges of the hand; Aplasia of the tarsal bones; Aplasia of the ulna; Aplasia/Hypoplasia of the thumb; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowing of the long bones; Broad foot; Camptodactyly of finger; Carpal bone aplasia; Clinodactyly of the 5th finger; Complete duplication of distal phalanx of the thumb; Depressed nasal ridge; Duplication of phalanx of hallux; Duplication of thumb phalanx; Fibular aplasia; Fibular duplication; Finger syndactyly; Foot polydactyly; Hand polydactyly; Increased fibular diameter; Limb duplication; Limitation of joint mobility; Lower limb peromelia; Mirror image polydactyly; Opposable triphalangeal thumb; Patellar aplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Preaxial foot polydactyly; Preaxial hand polydactyly; Prominent nose; Short columella; Short foot; Short humerus; Short tibia; Supernumerary metacarpal bones; Syndactyly; Talipes; Tarsal synostosis; Toe syndactyly; Triphalangeal thumb; Underdeveloped nasal alae; Upper limb phocomelia
MAP3K76q15100%gene with protein product602614TAK1Abnormal form of the vertebral bodies; Abnormality of dental morphology; Abnormality of the dentition; Abnormality of the metaphysis; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Anteverted nares; Autosomal dominant inheritance; Bicuspid aortic valve; Bowing of the long bones; Brachydactyly; Broad nasal tip; Camptodactyly; Camptodactyly of finger; Carpal synostosis; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital sensorineural hearing impairment; Craniofacial hyperostosis; Decreased testicular size; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Failure of eruption of permanent teeth; Failure to thrive; Freckling; Full cheeks; Fused cervical vertebrae; Gastroesophageal reflux; High palate; High, narrow palate; Hip contracture; Hypertelorism; Hypoplasia of the musculature; Irregular metacarpals; Joint laxity; Joint stiffness; Long fingers; Long metacarpals; Long philtrum; Micrognathia; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Patent ductus arteriosus; Patent foramen ovale; Pointed chin; Posterior vertebral hypoplasia; Posteriorly rotated ears; Prominent supraorbital ridges; Pseudoepiphyses; Pulmonic stenosis; Recurrent otitis media; Reduced number of teeth; Rib fusion; Scoliosis; Sensorineural hearing impairment; Severe short stature; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short foot; Short metacarpal; Short metatarsal; Short palm; Short philtrum; Short stature; Strabismus; Subglottic stenosis; Synostosis of carpal bones; Talipes equinovarus; Tarsal synostosis; Telecanthus; Thick eyebrow; Tracheal stenosis; Ulnar deviation of finger; Ulnar deviation of the hand; Upslanted palpebral fissure; Vesicoureteral reflux; Wide nasal bridge
MMP1311q22.299.99%gene with protein product600108Abnormality of epiphysis morphology; Abnormality of the head; Abnormality of the lower limb; Abnormality of the metaphysis; Abnormality of ulnar metaphysis; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Bowing of the long bones; Carious teeth; Coxa vara; Delayed skeletal maturation; Disproportionate short stature; Femoral bowing; Flared iliac wings; Flared metaphysis; Flared, irregular rib ends; Flattened epiphysis; Gait disturbance; Genu valgum; Genu varum; Hip dysplasia; Hyperlordosis; Irregular sclerotic endplates; Joint stiffness; Limited elbow extension; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal sclerosis; Metaphyseal widening; Motor delay; Osteoarthritis; Pear-shaped vertebrae; Platyspondyly; Progressive leg bowing; Radial bowing; Reduced bone mineral density; Rhizomelia; Scoliosis; Short lower limbs; Short stature; Small epiphyses; Spondyloepimetaphyseal dysplasia; Tibial bowing; Ulnar bowing; Waddling gait
NOTCH319p13.1299.94%gene with protein product600276CADASILAbnormal electroretinogram; Abnormal form of the vertebral bodies; Abnormality of the hair; Abnormality of the metaphysis; Abnormality of the middle ear ossicles; Abnormality of the musculature; Abnormality of the rib cage; Abnormality of the skin; Abnormality of the skull; Abnormality of the thorax; Abnormality of visual evoked potentials; Adult onset; Amaurosis fugax; Aphasia; Arachnoid cyst; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Autosomal dominant inheritance; Biconcave vertebral bodies; Bone cyst; Cerebral cortical atrophy; Cerebral ischemia; Chondrocalcinosis; Coarse hair; Coma; Conductive hearing impairment; Confusion; Cranial nerve paralysis; Craniofacial hyperostosis; Cryptorchidism; Dementia; Dental crowding; Depressivity; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; EEG abnormality; Elevated serum creatine phosphokinase; Fever; Gait disturbance; Generalized hypotonia; Gingival fibromatosis; Hemiplegia; High palate; High, narrow palate; Hypertelorism; Impaired pain sensation; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Kyphosis; Leukoencephalopathy; Long philtrum; Low posterior hairline; Low-set ears; Malar flattening; Memory impairment; Meningocele; Micrognathia; Migraine; Motor delay; Narrow face; Neoplasm of the lung; Neoplasm of the skin; Nonarteritic anterior ischemic optic neuropathy; Patent ductus arteriosus; Pectus excavatum; Platybasia; Posteriorly rotated ears; Prominent metopic ridge; Pseudobulbar paralysis; Ptosis; Recurrent subcortical infarcts; Retinal arteriolar tortuosity; Sclerosis of skull base; Scoliosis; Seizures; Sensory neuropathy; Short nasal bridge; Short neck; Short stature; Smooth philtrum; Spasticity; Stroke; Subcortical dementia; Subcutaneous nodule; Syringomyelia; Umbilical hernia; Urinary incontinence; Varicose veins; Vertebral fusion; Visual impairment; Wormian bones
NSD15q35.3100%gene with protein product606681STOAbnormal glucose tolerance; Abnormality of immune system physiology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Behavioral abnormality; Broad foot; Broad forehead; Broad thumb; Camptodactyly of finger; Cardiomegaly; Cardiomyopathy; Cavum septum pellucidum; Coarse facial features; Conductive hearing impairment; Cryptorchidism; Dandy-Walker malformation; Deep philtrum; Deep-set nails; Delayed skeletal maturation; Depressed nasal ridge; Diastasis recti; Dolichocephaly; Downslanted palpebral fissures; Enlarged cisterna magna; Enlarged kidney; Expressive language delay; Feeding difficulties in infancy; Fine hair; Frontal bossing; Genu valgum; Global developmental delay; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; High anterior hairline; High forehead; High palate; High, narrow palate; Hoarse voice; Hypermetropia; Hyperreflexia; Hypertelorism; Hypoglycemia; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Joint laxity; Joint stiffness; Large fontanelles; Large hands; Long foot; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Macrotia; Mandibular prognathia; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Narrow palate; Neonatal hypoglycemia; Neonatal hypotonia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Nystagmus; Obesity; Omphalocele; Otitis media; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pes planus; Pointed chin; Poor coordination; Posterior helix pit; Precocious puberty; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Redundant skin; Renal cortical cysts; Retrognathia; Round face; Scoliosis; Seizures; Short stature; Small nail; Spasticity; Specific learning disability; Sporadic; Strabismus; Tall stature; Thin nail; Ventricular septal defect; Ventriculomegaly; Vesicoureteral refluxObesity
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
P4HB17q25.3100%gene with protein product176790PO4DB, ERBA2LAbnormal form of the vertebral bodies; Abnormality of dental enamel; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the voice; Autosomal dominant inheritance; Blue sclerae; Bowing of the long bones; Communicating hydrocephalus; Coronal craniosynostosis; Crumpled long bones; Delayed eruption of teeth; Frontal bossing; High pitched voice; Intrauterine growth retardation; Kyphosis; Microdontia; Micrognathia; Midface retrusion; Muscular hypotonia; Orbital craniosynostosis; Osteopenia; Proptosis; Recurrent fractures; Scoliosis; Shallow orbits; Short stature; Skeletal dysplasia; Turricephaly; Vertebral compression fractures; 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
PDGFRB5q3299.97%gene with protein product173410PDGFRAbnormality of connective tissue; Abnormality of neuronal migration; Abnormality of the hair; Abnormality of the metaphysis; Abnormality of the musculature; Abnormality of the skull; Abnormality of the thorax; Adult onset; Athetosis; Autosomal dominant inheritance; Basal ganglia calcification; Bone cyst; Brachydactyly; Bradykinesia; Calcification of the small brain vessels; Cerebral calcification; Chondrocalcinosis; Chorea; Corneal opacity; Delayed cranial suture closure; Delayed eruption of teeth; Delayed skeletal maturation; Dense calcifications in the cerebellar dentate nucleus; Depressivity; Downslanted palpebral fissures; Dysarthria; Dysdiadochokinesis; Dystonia; Eosinophilia; Fibroma; Fragile skin; Gait disturbance; Gingival fibromatosis; Growth abnormality; Hepatomegaly; Hyperextensible skin; Hyperkeratosis; Hypermetropia; Hyperreflexia; Hypoplasia of the maxilla; Increased thyroid-stimulating hormone level; Intrauterine growth retardation; Limb dysmetria; Lipoatrophy; Long foot; Malignant eosinophil proliferation; Mask-like facies; Memory impairment; Mental deterioration; Microcephaly; Micrognathia; Midface retrusion; Myeloproliferative disorder; Narrow nose; Neoplasm of the lung; Neoplasm of the skin; Osteolytic defects of the phalanges of the hand; Osteopenia; Overgrowth; Parkinsonism; Pointed chin; Postural instability; Progressive; Progressive neurologic deterioration; Prominent forehead; Prominent nasal bridge; Prominent supraorbital ridges; Proptosis; Psychosis; Ptosis; Rigidity; Seizures; Sensorineural hearing impairment; Slender long bone; Sparse hair; Subcutaneous hemorrhage; Subcutaneous nodule; Thin calvarium; Thin skin; Thin upper lip vermilion; Thin vermilion border; Thoracolumbar scoliosis; Thrombocytopenia; Tremor; Urinary incontinence; Ventriculomegaly; Wide nasal bridge
PHEXXp22.1199.84%gene with protein product300550HYP, HPDRAbnormality of dental enamel; Abnormality of pelvic girdle bone morphology; Abnormality of the metaphysis; Arthralgia; Bone pain; Bowing of the legs; Craniosynostosis; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Enthesitis; Femoral bowing; Fibular bowing; Flattening of the talar dome; Frontal bossing; Genu varum; Hypomineralization of enamel; Hypophosphatemia; Hypophosphatemic rickets; Joint dislocation; Metaphyseal irregularity; Osteoarthritis; Osteomalacia; Phenotypic variability; Rachitic rosary; Renal phosphate wasting; Renal tubular dysfunction; Rickets; Short stature; Shortening of the talar neck; Spinal canal stenosis; Spinal cord compression; Tibial bowing; Tooth abscess; Trapezoidal distal femoral condyles; X-linked dominant inheritance
PTDSS18q22.199.94%gene with protein product612792Abnormal cortical bone morphology; Abnormal morphology of the nasolacrimal system; Abnormality of dental enamel; Abnormality of the dentition; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Agenesis of corpus callosum; Anteriorly placed anus; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the skin; Aplastic clavicles; Autosomal dominant inheritance; Brachydactyly; Broad clavicles; Broad forehead; Broad ribs; Choanal atresia; Choanal stenosis; Chordee; Cryptorchidism; Cutis laxa; Cutis marmorata; Delayed cranial suture closure; Delayed skeletal maturation; Diaphyseal thickening; Elbow ankylosis; Elbow flexion contracture; Epispadias; Facial hyperostosis; Facial palsy; Failure to thrive; Femoral hernia; Finger syndactyly; Flared metaphysis; Frontal bossing; Generalized hypotonia; Global developmental delay; Humeroradial synostosis; Hyperextensibility of the finger joints; Hypertelorism; Hypospadias; Inguinal hernia; Intellectual disability; Intellectual disability, moderate; Intrauterine growth retardation; Joint hyperflexibility; Knee flexion contracture; Lacrimal duct stenosis; Large fontanelles; Macrocephaly; Macrotia; Mandibular prognathia; Microglossia; Micrognathia; Osteopetrosis; Prematurely aged appearance; Progressive sclerosis of skull base; Prominent forehead; Prominent scalp veins; Proximal symphalangism of hands; Redundant skin; Relative macrocephaly; Sensorineural hearing impairment; Severe short stature; Short palm; Short stature; Sparse hair; Specific learning disability; Sporadic; Symphalangism affecting the phalanges of the hand; Syndactyly; Thick vermilion border; Thickened calvaria; Thin skin; Wide mouth
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
PTPN1112q24.1399.75%gene with protein product176876NS1Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal joint morphology; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Abnormality of the pulmonary artery; Abnormality of the spleen; Amegakaryocytic thrombocytopenia; Aplasia of the ovary; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Aseptic necrosis; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Bone pain; Bowing of the long bones; Brachydactyly; Bundle branch block; Cafe-au-lait spot; Cleft palate; Clinodactyly; Coarctation of aorta; Coarse hair; Cranial nerve paralysis; Cryptorchidism; Cubitus valgus; Cystic hygroma; Decreased fertility; Delayed menarche; Delayed puberty; Delayed skeletal maturation; Dental malocclusion; Depressed nasal ridge; Downslanted palpebral fissures; Dysarthria; Enlarged thorax; Epicanthus; Exostoses; Failure to thrive in infancy; Feeding difficulties in infancy; Freckling; Hepatomegaly; Heterogeneous; High forehead; High palate; High, narrow palate; Hyperextensible skin; Hypertelorism; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hyposmia; Hypospadias; Intellectual disability, mild; Intrauterine growth retardation; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Limited elbow movement; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Male infertility; Mandibular prognathia; Melanocytic nevus; Micrognathia; Micropenis; Midface retrusion; Missing ribs; Mitral valve prolapse; Multiple digital exostoses; Multiple enchondromatosis; Multiple lentigines; Muscle weakness; Muscular hypotonia; Myopia; Neurofibrosarcoma; Parietal bossing; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Posteriorly rotated ears; Postnatal growth retardation; Proptosis; Protruding ear; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Radial deviation of finger; Reduced factor XII activity; Reduced factor XIII activity; Scapular winging; Scoliosis; Sensorineural hearing impairment; Severe sensorineural hearing impairment; Shield chest; Short neck; Short stature; Somatic mutation; Spina bifida occulta; Sprengel anomaly; Strabismus; Subvalvular aortic stenosis; Superior pectus carinatum; Synovitis; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Third degree atrioventricular block; Triangular face; Unilateral renal agenesis; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide nasal bridgeBone Marrow Failure Syndromes
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
SBDS7q11.21100%gene with protein product607444Abnormality of the metaphysis; Acute myeloid leukemia; Anemia; Autosomal recessive inheritance; Coxa vara; Delayed skeletal maturation; Eczema; Elevated hepatic transaminases; Enlargement of the costochondral junction; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatomegaly; Ichthyosis; Intellectual disability; Intellectual disability, mild; Irregular ossification at anterior rib ends; Malabsorption; Metaphyseal chondrodysplasia; Metaphyseal sclerosis; Metaphyseal widening; Myelodysplasia; Myocardial necrosis; Narrow chest; Narrow sacroiliac notch; Neonatal respiratory distress; Nephrocalcinosis; Neutropenia; Osteopenia; Ovoid vertebral bodies; Pancytopenia; Persistence of hemoglobin F; Proximal femoral epiphysiolysis; Recurrent infections; Short stature; Small for gestational age; Specific learning disability; Steatorrhea; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes ; Primary Immunodeficiency
SEC24D4q2699.99%gene with protein product607186Abnormal form of the vertebral bodies; Abnormality of dental enamel; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the voice; Autosomal recessive inheritance; Blue sclerae; Bowing of the long bones; Communicating hydrocephalus; Coronal craniosynostosis; Crumpled long bones; Delayed eruption of teeth; Downslanted palpebral fissures; Frontal bossing; High palate; High pitched voice; Hydrocephalus; Hypertelorism; Intrauterine growth retardation; Kyphosis; Lambdoidal craniosynostosis; Macrocephaly; Micrognathia; Microretrognathia; Midface retrusion; Muscular hypotonia; Oligohydramnios; Osteopenia; Pectus excavatum; Platyspondyly; Postnatal growth retardation; Proptosis; Recurrent fractures; Scoliosis; Short stature; Skeletal dysplasia; Thin ribs; Triangular face; Turricephaly; Wormian bones
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
SLC29A310q22.199.86%gene with protein product612373Abnormality of dental enamel; Abnormality of the cranial nerves; Abnormality of the metaphysis; Aplasia/Hypoplasia of the skin; Autosomal recessive inheritance; Camptodactyly; Cerebral calcification; Cervical lymphadenopathy; Clinodactyly; Craniofacial hyperostosis; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Developmental regression; Diabetes mellitus; Elbow flexion contracture; Episcleritis; Fever; Growth hormone deficiency; Hallux valgus; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Histiocytosis; Hypergonadotropic hypogonadism; Hyperpigmentation of the skin; Hypertelorism; Hypertrichosis; Hypoplastic vertebral bodies; Increased bone mineral density; Intellectual disability; Irregular vertebral endplates; Lymphadenopathy; Macrocephaly; Nystagmus; Optic atrophy; Phenotypic variability; Platyspondyly; Proptosis; Recurrent fractures; Rough bone trabeculation; Scleroderma; Sensorineural hearing impairment; Short stature; Splenomegaly; Stiff skin; Ventricular septal defect
SLC39A1311p11.2100%gene with protein product608735Abnormality of the metaphysis; Absent palmar crease; Autosomal recessive inheritance; Bifid uvula; Blue sclerae; Broad femoral neck; Bruising susceptibility; Camptodactyly of finger; Cigarette-paper scars; Delayed eruption of teeth; Dental malocclusion; Downslanted palpebral fissures; Failure to thrive; Flat capital femoral epiphysis; High palate; Hyperextensible skin; Hypodontia; Irregular vertebral endplates; Joint laxity; Metaphyseal widening; Moderately short stature; Osteopenia; Pes planus; Platyspondyly; Prominent superficial veins; Proptosis; Short femoral neck; Short metacarpal; Short phalanx of finger; Skeletal dysplasia; Tapered finger; Thenar muscle atrophy; Thin skin; Waddling gait
SMAD418q21.2100%gene with protein product600993MADH42-3 toe syndactyly; Abdominal pain; Abnormal cardiac septum morphology; Abnormality of epiphysis morphology; Abnormality of the metaphysis; Abnormality of the pubic bone; Abnormality of the ribs; Abnormality of the voice; Anemia; Anorexia; Aortic valve stenosis; Autism; Autosomal dominant inheritance; Back pain; Blepharophimosis; Brachydactyly; Broad ribs; Camptodactyly; Cavernous hemangioma; Cholecystitis; Chronic fatigue; Clinodactyly; Coarctation of aorta; Cone-shaped epiphysis; Craniofacial hyperostosis; Cryptorchidism; Deeply set eye; EMG abnormality; Enlarged vertebral pedicles; Epistaxis; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Failure to thrive; Fine hair; Functional intestinal obstruction; Generalized muscle hypertrophy; Global developmental delay; Hamartomatous polyposis; Hearing impairment; Hematochezia; High hypermetropia; Hypermetropia; Hypertelorism; Hypertension; Hypoalbuminemia; Hypokalemia; Hypoplasia of the maxilla; Hypoplastic iliac wing; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Intrauterine growth retardation; Jaundice; Joint stiffness; Large iliac wings; Laryngotracheal stenosis; Limitation of joint mobility; Low-set ears; Lymphadenopathy; Malar flattening; Mandibular prognathia; Microcephaly; Microcytic anemia; Microtia; Midface retrusion; Migraine; Multiple gastric polyps; Narrow mouth; Neoplasm of the pancreas; Overlapping toe; Pancreatic adenocarcinoma; Patent ductus arteriosus; Pericardial effusion; Platyspondyly; Poor appetite; Portal hypertension; Prominent nasal bridge; Ptosis; Radial deviation of finger; Seizures; Severe short stature; Short finger; Short long bone; Short neck; Short palm; Short palpebral fissure; Short philtrum; Short stature; Short toe; Skeletal muscle hypertrophy; Somatic mutation; Sparse hair; Specific learning disability; Spontaneous hematomas; Stiff skin; Strabismus; Telangiectasia of the skin; Thick eyebrow; Thickened calvaria; Thickened skin; Thin upper lip vermilion; Thin vermilion border; Vertebral fusion; Visceral angiomatosis; Weight loss
SNX107p15.299.98%gene with protein product614780Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of temperature regulation; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of visual evoked potentials; Anemia; Autosomal recessive inheritance; Bone pain; Bowing of the long bones; Chronic rhinitis; Craniosynostosis; Delayed eruption of teeth; Facial palsy; Failure to thrive; Feeding difficulties; Frontal bossing; Growth delay; Hearing impairment; Hepatomegaly; Hydrocephalus; Lymphadenopathy; Macrocephaly; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteopetrosis; Otitis media; Pallor; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Splenomegaly; Thrombocytopenia; Tremor; Visual impairment
SRP5414q13.2100%gene with protein product604857Abnormality of the metaphysis; Anemia; Delayed skeletal maturation; Eczema; Exocrine pancreatic insufficiency; Failure to thrive; Generalized hypotonia; Global developmental delay; Ichthyosis; Intellectual disability; Malabsorption; Neutropenia; Osteopenia; Recurrent infections; Short stature; ThrombocytopeniaBone Marrow Failure Syndromes
SUZ1217q11.299.43%gene with protein product606245Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Accelerated skeletal maturation; Broad foot; Broad forehead; Broad thumb; Camptodactyly of finger; Deep philtrum; Deep-set nails; Feeding difficulties in infancy; Fine hair; Global developmental delay; Hoarse voice; Hypertelorism; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Joint stiffness; Large hands; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Micrognathia; Redundant skin; Retrognathia; Round face; Spasticity; Tall stature; Thin nail
TBXAS17q3499.99%gene with protein product274180Abnormal cortical bone morphology; Abnormal form of the vertebral bodies; Abnormality of femur morphology; Abnormality of immune system physiology; Abnormality of pelvic girdle bone morphology; Abnormality of the metaphysis; Abnormality of tibia morphology; Anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bowing of the long bones; Bruising susceptibility; Craniofacial hyperostosis; Diaphyseal dysplasia; Diaphyseal thickening; Epistaxis; Hyperostosis cranialis interna; Increased bone mineral density; Myelofibrosis; Phenotypic variability; Prolonged bleeding time; Refractory anemia; Thrombocytopenia
TCIRG111q13.2100%gene with protein product604592Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of temperature regulation; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of visual evoked potentials; Anemia; Autosomal recessive inheritance; Blindness; Bone pain; Bowing of the long bones; Carious teeth; Chronic rhinitis; Coxa vara; Craniosynostosis; Delayed eruption of teeth; Elevated alkaline phosphatase; Facial palsy; Facial paralysis; Failure to thrive; Flared metaphysis; Frontal bossing; Growth delay; Hearing impairment; Hepatomegaly; Heterogeneous; Hydrocephalus; Lymphadenopathy; Macrocephaly; Narrow chest; Nystagmus; Ophthalmoparesis; Opsoclonus; Optic atrophy; Optic nerve compression; Osteomyelitis; Osteopetrosis; Otitis media; Pallor; Pancytopenia; Pathologic fracture; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Sandwich appearance of vertebral bodies; Seizures; Splenomegaly; Tetany; Tremor; Visual impairmentAplastic Anemia ; Bone Marrow Failure Syndromes
TNFSF1113q14100%gene with protein product602642Abnormal blistering of the skin; Abnormality of epiphysis morphology; Abnormality of hair texture; Abnormality of temperature regulation; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of visual evoked potentials; Anemia; Autosomal recessive inheritance; Blindness; Bone pain; Bowing of the long bones; Carious teeth; Chronic rhinitis; Chronic rhinitis due to narrow nasal airway; Cranial hyperostosis; Craniosynostosis; Delayed eruption of teeth; Diaphyseal sclerosis; Extramedullary hematopoiesis; Facial paralysis; Genu valgum; Growth delay; Hearing impairment; Hepatomegaly; Hepatosplenomegaly; Hydrocephalus; Lymphadenopathy; Macrocephaly; Mandibular osteomyelitis; Mandibular prognathia; Narrow chest; Nystagmus; Opsoclonus; Optic atrophy; Optic nerve compression; Osteopetrosis; Otitis media; Pallor; Pancytopenia; Persistence of primary teeth; Premature loss of primary teeth; Recurrent fractures; Recurrent respiratory infections; Reduced bone mineral density; Splenomegaly; Thrombocytopenia; Tremor; Visual impairment
TRPV412q24.11100%gene with protein product605427Abducens palsy; Abnormal cortical bone morphology; Abnormal enchondral ossification; Abnormal form of the vertebral bodies; Abnormal metaphyseal vascular invasion; Abnormality of the eye; Abnormality of the face; Abnormality of the foot; Abnormality of the intervertebral disk; Abnormality of the metaphysis; Abnormality of the rib cage; Abnormality of the ribs; Absent primary metaphyseal spongiosa; Amyoplasia; Anisospondyly; Areflexia; Arthrogryposis multiplex congenita; Arthropathy; Autosomal dominant inheritance; Barrel-shaped chest; Brachydactyly; Brachytelomesophalangy; Broad-based gait; Cachexia; Carpal bone hypoplasia; Caudal appendage; Childhood-onset short-trunk short stature; Clinodactyly; Coxa vara; Decreased distal sensory nerve action potential; Decreased fetal movement; Delayed skeletal maturation; Depressed nasal bridge; Diaphragmatic weakness; Disproportionate short-trunk short stature; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Dumbbell-shaped metaphyses; Elbow flexion contracture; Elevated serum creatine phosphokinase; Enlarged joints; Epiphyseal dysplasia; Facial palsy; Flared femoral metaphysis; Flared humeral metaphysis; Flared metaphysis; Flat acetabular roof; Flexion contracture; Foot dorsiflexor weakness; Gait disturbance; Genu valgum; Gowers sign; Halberd-shaped pelvis; Hammertoe; Hand muscle atrophy; High forehead; Hip contracture; Hip dysplasia; Hyperlordosis; Hypermetropia; Hyperplasia of the femoral trochanters; Hypoplasia of the odontoid process; Hypoplastic cervical vertebrae; Hyporeflexia; Incomplete penetrance; Increased vertebral height; Intercostal muscle weakness; Irregular acetabular roof; Irregular, rachitic-like metaphyses; Joint stiffness; Juvenile onset; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long coccyx; Long thorax; Metatarsus adductus; Micromelia; Motor delay; Motor polyneuropathy; Muscle fiber splitting; Muscular hypotonia; Narrow chest; Nonprogressive; Nonprogressive muscular atrophy; Obstructive sleep apnea; Oculomotor nerve palsy; Onset; Osteoarthritis of the small joints of the hand; Pectus carinatum; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Platyspondyly; Progressive distal muscle weakness; Progressive distal muscular atrophy; Proximal femoral metaphyseal irregularity; Proximal lower limb amyotrophy; Radial deviation of finger; Relatively short spine; Respiratory failure; Rough bone trabeculation; Scapular muscle atrophy; Scapular winging; Scapuloperoneal amyotrophy; Scoliosis; Sensorineural hearing impairment; Sensory neuropathy; Severe carpal ossification delay; Severe short stature; Short distal phalanx of finger; Short distal phalanx of toe; Short femoral neck; Short finger; Short middle phalanx of finger; Short middle phalanx of toe; Short neck; Short stature; Short thorax; Shortening of all distal phalanges of the toes; Shortening of all middle phalanges of the toes; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small hand; Spinal cord compression; Spinal muscular atrophy; Spondyloepiphyseal dysplasia; Spondylometaphyseal dysplasia; Stridor; Talipes equinovarus; Torticollis; Urinary incontinence; Urinary urgency; Variable expressivity; Vocal cord paresis; Waddling gait
TTC21B2q24.399.99%gene with protein product612014Abnormality of pelvic girdle bone morphology; Abnormality of the clavicle; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Cone-shaped epiphysis; Micromelia; Narrow chest; Nephronophthisis; Respiratory insufficiency; Retinal degeneration; Short foot; Short long bone; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Stage 5 chronic kidney diseaseHeterotaxy ; Nephrotic Syndrome ; Short-Rib Thoracic Dysplasia
VDR12q13.11100%gene with protein product601769Abdominal wall muscle weakness; Abnormal adipose tissue morphology; Abnormal form of the vertebral bodies; Abnormality of the hip bone; Abnormality of the metaphysis; Abnormality of the skin; Abnormality of the thorax; Alopecia; Alopecia universalis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone cyst; Bone pain; Bowing of the legs; Bulging epiphyses; Bulging of the costochondral junction; Carious teeth; Deformed rib cage; Delayed epiphyseal ossification; Delayed eruption of teeth; Difficulty standing; Difficulty walking; Dolichocephaly; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Enlargement of the ankles; Enlargement of the wrists; Failure to thrive; Femoral bowing; Fibular bowing; Flat occiput; Frontal bossing; Gait disturbance; Generalized hypotonia; Genu varum; Growth delay; Hyperparathyroidism; Hypocalcemia; Hypocalcemic seizures; Hypophosphatemia; Hypoplasia of dental enamel; Increased serum 1,25-dihydroxyvitamin D3; Infantile onset; Irritability; Joint dislocation; Metaphyseal irregularity; Motor delay; Nephrolithiasis; Osteolysis; Osteomalacia; Osteoporosis; Premature loss of primary teeth; Protuberant abdomen; Recurrent fractures; Rickets; Rough bone trabeculation; Secondary hyperparathyroidism; Short stature; Sparse bone trabeculae; Subperiosteal bone resorption; Thin bony cortex; Tibial bowing; Widely patent fontanelles and sutures
WDR194p1499.92%gene with protein product608151Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Broad distal phalanx of finger; Broad phalanx of the toes; Cataract; Chronic tubulointerstitial nephritis; Cone-shaped epiphysis; Craniosynostosis; Cutis laxa; Dolichocephaly; Ectodermal dysplasia; Elevated serum creatinine; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Frontal bossing; Full cheeks; Global developmental delay; Hepatic cysts; Hip dysplasia; Hypermetropia; Hypertension; Hypodontia; Hypotelorism; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Metaphyseal widening; Microdontia; Micromelia; Myopia; Narrow chest; Nephronophthisis; Nephropathy; Osteoporosis; Pancreatic cysts; Pectus excavatum; Pes valgus; Premature ovarian insufficiency; Progressive visual loss; Prominent occiput; Proteinuria; Reduced visual acuity; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Rhizomelia; Rod-cone dystrophy; Short distal phalanx of finger; Short foot; Short iliac bones; Short stature; Short thorax; Skeletal dysplasia; Sparse hair; Stage 5 chronic kidney disease; Thin upper lip vermilion; Thoracic dysplasia; Visual impairmentEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
WDR194p1499.92%gene with protein product608151Abnormal diaphysis morphology; Abnormal toenail morphology; Abnormality of pelvic girdle bone morphology; Abnormality of retinal pigmentation; Abnormality of the clavicle; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the ribs; Abnormality of the sternum; Anteverted nares; Autosomal recessive inheritance; Brachydactyly; Broad distal phalanx of finger; Broad phalanx of the toes; Cataract; Chronic tubulointerstitial nephritis; Cone-shaped epiphysis; Craniosynostosis; Cutis laxa; Dolichocephaly; Ectodermal dysplasia; Elevated serum creatinine; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Frontal bossing; Full cheeks; Global developmental delay; Hepatic cysts; Hip dysplasia; Hypermetropia; Hypertension; Hypodontia; Hypotelorism; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Metaphyseal widening; Microdontia; Micromelia; Myopia; Narrow chest; Nephronophthisis; Nephropathy; Osteoporosis; Pancreatic cysts; Pectus excavatum; Pes valgus; Premature ovarian insufficiency; Progressive visual loss; Prominent occiput; Proteinuria; Reduced visual acuity; Renal hypoplasia; Respiratory insufficiency; Retinal dystrophy; Rhizomelia; Rod-cone dystrophy; Short distal phalanx of finger; Short foot; Short iliac bones; Short stature; Short thorax; Skeletal dysplasia; Sparse hair; Stage 5 chronic kidney disease; Thin upper lip vermilion; Thoracic dysplasia; Visual impairmentEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
WDR349q34.11100%gene with protein product613363Abdominal 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; Bell-shaped thorax; Brachydactyly; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Horizontal ribs; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Recurrent respiratory infections; Renal hypoplasia; Respiratory insufficiency; Short foot; Short long bone; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Thoracic dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseShort-Rib Thoracic Dysplasia
WDR349q34.11100%gene with protein product613363Abdominal 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; Bell-shaped thorax; Brachydactyly; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Frontal bossing; Horizontal ribs; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Narrow chest; Postaxial hand polydactyly; Recurrent respiratory infections; Renal hypoplasia; Respiratory insufficiency; Short foot; Short long bone; Short palm; Short ribs; Short thorax; Skeletal dysplasia; Thoracic dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide noseShort-Rib Thoracic Dysplasia
WDR352p24.199.89%gene with protein product613602Abdominal distention; Abnormal diaphysis morphology; Abnormal pelvis bone ossification; Abnormal toenail morphology; Abnormality of cardiovascular system morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the pinna; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Anteverted nares; Autosomal recessive inheritance; Blepharophimosis; Bowing of the long bones; Brachydactyly; Cleft upper lip; Congenital hepatic fibrosis; Craniosynostosis; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Disproportionate short-limb short stature; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypertelorism; Hypodontia; Hypoplasia of penis; Hypoplastic scapulae; Hypospadias; Hypotelorism; Inguinal hernia; Joint hyperflexibility; Joint laxity; Lethal skeletal dysplasia; Long philtrum; Low-set ears; Macrocephaly; Microdontia; Micrognathia; Micromelia; Narrow chest; Osteoporosis; Pectus excavatum; Polycystic kidney dysplasia; Polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Prominent occiput; Pulmonary hypoplasia; Renal cyst; Renal hypoplasia; Respiratory insufficiency; Rhizomelia; Short distal phalanx of finger; Short foot; Short long bone; Short neck; Short palm; Short ribs; Short thorax; Sparse hair; Syndactyly; Telecanthus; Thoracic dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide nose; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
WDR352p24.199.89%gene with protein product613602Abdominal distention; Abnormal diaphysis morphology; Abnormal pelvis bone ossification; Abnormal toenail morphology; Abnormality of cardiovascular system morphology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormality of the pinna; Absent or minimally ossified vertebral bodies; Ambiguous genitalia; Anteverted nares; Autosomal recessive inheritance; Blepharophimosis; Bowing of the long bones; Brachydactyly; Cleft upper lip; Congenital hepatic fibrosis; Craniosynostosis; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Disproportionate short-limb short stature; Dolichocephaly; Ectodermal dysplasia; Epicanthus; Everted lower lip vermilion; Finger syndactyly; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypertelorism; Hypodontia; Hypoplasia of penis; Hypoplastic scapulae; Hypospadias; Hypotelorism; Inguinal hernia; Joint hyperflexibility; Joint laxity; Lethal skeletal dysplasia; Long philtrum; Low-set ears; Macrocephaly; Microdontia; Micrognathia; Micromelia; Narrow chest; Osteoporosis; Pectus excavatum; Polycystic kidney dysplasia; Polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Prominent occiput; Pulmonary hypoplasia; Renal cyst; Renal hypoplasia; Respiratory insufficiency; Rhizomelia; Short distal phalanx of finger; Short foot; Short long bone; Short neck; Short palm; Short ribs; Short thorax; Sparse hair; Syndactyly; Telecanthus; Thoracic dysplasia; Urethrovaginal fistula; Uterus didelphys; Wide nose; Widely spaced teethEctodermal Dysplasia ; Heterotaxy ; Short-Rib Thoracic Dysplasia
WDR607q36.3100%gene with protein product615462Abdominal 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; Acetabular spurs; Ambiguous genitalia; Autosomal recessive inheritance; Brachydactyly; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Failure to thrive; Femoral bowing; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Narrow chest; Pancreatic fibrosis; Polyhydramnios; Postaxial hand polydactyly; Postaxial polydactyly; Preaxial polydactyly; Pulmonary hypoplasia; Renal hypoplasia; Respiratory insufficiency; Short foot; Short long bone; Short palm; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Syndactyly; Thoracic dysplasia; Urethrovaginal fistula; Uterus didelphys; Ventricular septal defect; Wide noseDisorders of Sex Development; Short-Rib Thoracic Dysplasia
WDR607q36.3100%gene with protein product615462Abdominal 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; Acetabular spurs; Ambiguous genitalia; Autosomal recessive inheritance; Brachydactyly; Cleft upper lip; Cone-shaped epiphysis; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal bridge; Disproportionate short-limb short stature; Epicanthus; Failure to thrive; Femoral bowing; Frontal bossing; Hydronephrosis; Hydrops fetalis; Hypoplasia of penis; Lethal skeletal dysplasia; Long philtrum; Macrocephaly; Micrognathia; Micromelia; Narrow chest; Pancreatic fibrosis; Polyhydramnios; Postaxial hand polydactyly; Postaxial polydactyly; Preaxial polydactyly; Pulmonary hypoplasia; Renal hypoplasia; Respiratory insufficiency; Short foot; Short long bone; Short palm; Short ribs; Short stature; Short thorax; Skeletal dysplasia; Syndactyly; Thoracic dysplasia; Urethrovaginal fistula; Uterus didelphys; Ventricular septal defect; Wide noseDisorders of Sex Development; Short-Rib Thoracic Dysplasia
XYLT116p12.3100%gene with protein product608124Abnormality of the eyelashes; Abnormality of the metaphysis; Accelerated skeletal maturation; Advanced ossification of carpal bones; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Autosomal recessive inheritance; Bell-shaped thorax; Blue sclerae; Camptodactyly of finger; Clinodactyly of the 5th finger; Coxa valga; Coxa vara; Depressed nasal bridge; Disproportionate short-limb short stature; Elbow dislocation; Epiphyseal dysplasia; Flat face; Genu recurvatum; Glaucoma; Hypotrichosis; Intellectual disability; Joint hyperflexibility; Joint laxity; Long philtrum; Low-set, posteriorly rotated ears; Metaphyseal widening; Patellar dislocation; Proptosis; Radioulnar synostosis; Relative macrocephaly; Round face; Scoliosis; Severe short stature; Short clavicles; Short long bone; Short metacarpal; Short neck; Short phalanx of finger; Short stature; Small hand; Ventricular septal defectMuscular dystropy-dystroglycanopathy (Walker-Warburg); Obesity


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


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(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AlportAlport Syndrome
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-PKDPolycystic Kidney Disease
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome