XomeDxSlice Tool

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Phenotypes
Agenesis of corpus callosum

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABAT16p13.2100%gene with protein product137150Agenesis of corpus callosum; Autosomal recessive inheritance; Cerebellar hypoplasia; Death in childhood; Downslanted palpebral fissures; Global developmental delay; High-pitched cry; Hyperreflexia; Lethargy; Leukodystrophy; Posterior fossa cyst; Retrognathia; Seizures; Severe muscular hypotonia; Tall stature
ACTB7p22.1100%gene with protein product102630Abnormality of metabolism/homeostasis; Achalasia; Agenesis of corpus callosum; Anteverted nares; Aortic valve stenosis; Aphasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Blindness; Cataract; Cerebral cortical hemiatrophy; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coarse facial features; Cryptorchidism; Death in early adulthood; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphagia; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Externally rotated hips; Failure to thrive; Feeding difficulties; Full cheeks; Generalized dystonia; Generalized hypotonia; Global developmental delay; Growth delay; Hamartoma; Heterochromia iridis; High forehead; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypermelanotic macule; Hypertelorism; Hypoplastic scapulae; Immunodeficiency; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint stiffness; Kyphoscoliosis; Kyphosis; Large fontanelles; Lipoatrophy; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Macroglossia; Macrogyria; Mental deterioration; Microcephaly; Micrognathia; Micromelia; Micropenis; Mild global developmental delay; Mutism; Oral cleft; Osteochondrosis; Overfolded helix; Pachygyria; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pointed chin; Polymicrogyria; Postnatal growth retardation; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short columella; Short neck; Short nose; Short stature; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small for gestational age; Specific learning disability; Subcortical cerebral atrophy; Supernumerary nipple; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose
ALX31p13.3100%gene with protein product606014FNDAgenesis of corpus callosum; Anterior basal encephalocele; Autosomal recessive inheritance; Bifid nasal tip; Brachydactyly; Broad nasal tip; Camptodactyly; Cataract; Clinodactyly; Coloboma; Conductive hearing impairment; Cranium bifidum occultum; Epicanthus; Frontal cutaneous lipoma; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic frontal sinuses; Intellectual disability; Joint contracture of the hand; Lipoma of corpus callosum; Low-set ears; Median cleft lip; Median cleft palate; Microphthalmia; Pectoral muscle hypoplasia/aplasia; Postaxial hand polydactyly; Preauricular skin tag; Ptosis; Radial deviation of finger; Short columella; Sporadic; Tetralogy of Fallot; Wide nasal bridge; Widely-spaced maxillary central incisors
ALX411p11.2100%gene with protein product605420PFM2Agenesis of cerebellar vermis; Agenesis of corpus callosum; Alopecia; Anteverted nares; Aplasia cutis congenita of scalp; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid nasal tip; Bifid nose; Brachycephaly; Broad nasal tip; Broad philtrum; Calvarial skull defect; Cerebellar vermis hypoplasia; Conical tooth; Coronal craniosynostosis; Craniosynostosis; Cryptorchidism; Decreased skull ossification; Depressed nasal bridge; Depressed nasal ridge; Depressed nasal tip; Dolichocephaly; Downturned corners of mouth; Encephalocele; Epicanthus; Exostoses; Fine hair; Frontal bossing; Global developmental delay; Hypertelorism; Hypogonadism; Hypoplasia of the corpus callosum; Intellectual disability, mild; Intellectual disability, moderate; Intrauterine growth retardation; Low-set ears; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Nystagmus; Oligohydramnios; Parietal foramina; Prominent nasal bridge; Scrotal hypoplasia; Seizures; Short palpebral fissure; Short philtrum; Sparse and thin eyebrow; Sparse eyelashes; Strabismus; Symmetrical, oval parietal bone defects; Telecanthus; Underdeveloped nasal alae; Upslanted palpebral fissure; Variable expressivity; Wide nasal bridge
AMT3p21.31100%gene with protein product238310Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Death in infancy; Encephalopathy; Generalized hypotonia; Hyperactivity; Hyperglycinemia; Hyperglycinuria; Hyperreflexia; Impulsivity; Intellectual disability; Irritability; Lethargy; Myoclonus; Recurrent singultus; Restlessness; SeizuresAplastic Anemia ; Bone Marrow Failure Syndromes ; Hemolytic Anemia
ANKLE212q24.33100%gene with protein product616062KIAA0692Abnormal cortical bone morphology; Adducted thumb; Agenesis of corpus callosum; Autosomal recessive inheritance; Cortical gyral simplification; Cryptorchidism; Decreased body weight; Glaucoma; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability, severe; Knee flexion contracture; Microcephaly; Micrognathia; Open mouth; Pachygyria; Ptosis; Seizures; Short stature; Sloping forehead; Spastic tetraplegia; Telecanthus; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
ANKLE212q24.33100%gene with protein product616062KIAA0692Abnormal cortical bone morphology; Adducted thumb; Agenesis of corpus callosum; Autosomal recessive inheritance; Cortical gyral simplification; Cryptorchidism; Decreased body weight; Glaucoma; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability, severe; Knee flexion contracture; Microcephaly; Micrognathia; Open mouth; Pachygyria; Ptosis; Seizures; Short stature; Sloping forehead; Spastic tetraplegia; Telecanthus; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
ARID1B6q25.3100%gene with protein product614556Abnormality of cardiovascular system morphology; Abnormality of the dentition; Abnormality of the pinna; Abnormality of vision; Agenesis of corpus callosum; Aggressive behavior; Aplasia of the uterus; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Astigmatism; Atrial septal defect; Autistic behavior; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad nasal tip; Bulbous nose; Choanal atresia; Cleft palate; Coarse facial features; Congenital diaphragmatic hernia; Coxa valga; Cryptorchidism; Cutis marmorata; Dandy-Walker malformation; Delayed eruption of teeth; Delayed skeletal maturation; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Downslanted palpebral fissures; Duodenal ulcer; Ectopic kidney; Elbow dislocation; Epicanthus; Facial hypertrichosis; Failure to thrive; Feeding difficulties in infancy; Gastric ulcer; Generalized hirsutism; Global developmental delay; Hearing impairment; Hemangioma; High palate; Hydronephrosis; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplastic fifth fingernail; Hypospadias; Hypotelorism; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intestinal malrotation; Intrauterine growth retardation; Intussusception; Joint hyperflexibility; Joint laxity; Kyphosis; Long eyelashes; Low-set ears; Low-set, posteriorly rotated ears; Lumbosacral hirsutism; Malar flattening; Microcephaly; Muscular hypotonia; Myopia; Nystagmus; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Phenotypic variability; Plagiocephaly; Posteriorly rotated ears; Postnatal growth retardation; Preauricular skin tag; Prominent interphalangeal joints; Ptosis; Recurrent respiratory infections; Renal hypoplasia; Sacral dimple; Scoliosis; Seizures; Sensorineural hearing impairment; Severe expressive language delay; Short distal phalanx of finger; Short distal phalanx of the 5th finger; Short distal phalanx of the 5th toe; Short stature; Short sternum; Single transverse palmar crease; Slow-growing hair; Sparse scalp hair; Spina bifida occulta; Strabismus; Tetralogy of Fallot; Thick eyebrow; Thick lower lip vermilion; Thin upper lip vermilion; Umbilical hernia; Ventricular septal defect; Visual impairment; Wide mouth; Wide nasal bridge
ARNT215q25.199.99%gene with protein product606036Agenesis of corpus callosum; Anterior pituitary hypoplasia; Autosomal recessive inheritance; Cleft palate; Cryptorchidism; Deeply set eye; Delayed myelination; Diabetes insipidus; Gastroesophageal reflux; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hip dislocation; Hydronephrosis; Hypernatremia; Hypoplasia of penis; Hypoplasia of the corpus callosum; Microcephaly; Neurogenic bladder; Nystagmus; Pituitary hypothyroidism; Postnatal microcephaly; Prominent forehead; Retrognathia; Seizures; Septo-optic dysplasia; Short stature; Spasticity; Strabismus; Vesicoureteral reflux; Visual impairment
ARXXp21.399.72%gene with protein product300382MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87Abnormal hair pattern; Abnormality of skin morphology; Abnormality of the hip bone; Abnormally large globe; Agenesis of corpus callosum; Ambiguous genitalia; Broad alveolar ridges; Choreoathetosis; Coarse facial features; Cryptorchidism; Death in infancy; Decreased testicular size; Delayed speech and language development; Developmental regression; Diarrhea; Duane anomaly; Dysarthria; Dysphagia; Dyspnea; Dystonia; EEG abnormality; Epileptic encephalopathy; Feeding difficulties in infancy; Flexion contracture; Focal dystonia; Generalized hirsutism; Generalized hypotonia; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hemiplegia; High forehead; High palate; Hirsutism; Hyperconvex nail; Hyperreflexia; Hypohidrosis; Hypoplasia of penis; Hypospadias; Hypsarrhythmia; Infantile spasms; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb dystonia; Limb joint contracture; Lissencephaly; Long philtrum; Long upper lip; Low anterior hairline; Low-set ears; Lower limb spasticity; Malabsorption; Microcephaly; Micrognathia; Micropenis; Muscle stiffness; Muscular hypotonia; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nystagmus; Optic atrophy; Overlapping toe; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Prominent supraorbital ridges; Protruding ear; Renal dysplasia; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short stature; Spastic tetraplegia; Spasticity; Specific learning disability; Status epilepticus; Strabismus; Synophrys; Tapered finger; Tetraplegia; Thin upper lip vermilion; Triangular face; Ventriculomegaly; Visual impairment; Wide anterior fontanel; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ARXXp21.399.72%gene with protein product300382MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87Abnormal hair pattern; Abnormality of skin morphology; Abnormality of the hip bone; Abnormally large globe; Agenesis of corpus callosum; Ambiguous genitalia; Broad alveolar ridges; Choreoathetosis; Coarse facial features; Cryptorchidism; Death in infancy; Decreased testicular size; Delayed speech and language development; Developmental regression; Diarrhea; Duane anomaly; Dysarthria; Dysphagia; Dyspnea; Dystonia; EEG abnormality; Epileptic encephalopathy; Feeding difficulties in infancy; Flexion contracture; Focal dystonia; Generalized hirsutism; Generalized hypotonia; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hemiplegia; High forehead; High palate; Hirsutism; Hyperconvex nail; Hyperreflexia; Hypohidrosis; Hypoplasia of penis; Hypospadias; Hypsarrhythmia; Infantile spasms; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb dystonia; Limb joint contracture; Lissencephaly; Long philtrum; Long upper lip; Low anterior hairline; Low-set ears; Lower limb spasticity; Malabsorption; Microcephaly; Micrognathia; Micropenis; Muscle stiffness; Muscular hypotonia; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nystagmus; Optic atrophy; Overlapping toe; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Prominent supraorbital ridges; Protruding ear; Renal dysplasia; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short stature; Spastic tetraplegia; Spasticity; Specific learning disability; Status epilepticus; Strabismus; Synophrys; Tapered finger; Tetraplegia; Thin upper lip vermilion; Triangular face; Ventriculomegaly; Visual impairment; Wide anterior fontanel; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ARXXp21.399.72%gene with protein product300382MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87Abnormal hair pattern; Abnormality of skin morphology; Abnormality of the hip bone; Abnormally large globe; Agenesis of corpus callosum; Ambiguous genitalia; Broad alveolar ridges; Choreoathetosis; Coarse facial features; Cryptorchidism; Death in infancy; Decreased testicular size; Delayed speech and language development; Developmental regression; Diarrhea; Duane anomaly; Dysarthria; Dysphagia; Dyspnea; Dystonia; EEG abnormality; Epileptic encephalopathy; Feeding difficulties in infancy; Flexion contracture; Focal dystonia; Generalized hirsutism; Generalized hypotonia; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hemiplegia; High forehead; High palate; Hirsutism; Hyperconvex nail; Hyperreflexia; Hypohidrosis; Hypoplasia of penis; Hypospadias; Hypsarrhythmia; Infantile spasms; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb dystonia; Limb joint contracture; Lissencephaly; Long philtrum; Long upper lip; Low anterior hairline; Low-set ears; Lower limb spasticity; Malabsorption; Microcephaly; Micrognathia; Micropenis; Muscle stiffness; Muscular hypotonia; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nystagmus; Optic atrophy; Overlapping toe; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Prominent supraorbital ridges; Protruding ear; Renal dysplasia; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short stature; Spastic tetraplegia; Spasticity; Specific learning disability; Status epilepticus; Strabismus; Synophrys; Tapered finger; Tetraplegia; Thin upper lip vermilion; Triangular face; Ventriculomegaly; Visual impairment; Wide anterior fontanel; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ARXXp21.399.72%gene with protein product300382MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87Abnormal hair pattern; Abnormality of skin morphology; Abnormality of the hip bone; Abnormally large globe; Agenesis of corpus callosum; Ambiguous genitalia; Broad alveolar ridges; Choreoathetosis; Coarse facial features; Cryptorchidism; Death in infancy; Decreased testicular size; Delayed speech and language development; Developmental regression; Diarrhea; Duane anomaly; Dysarthria; Dysphagia; Dyspnea; Dystonia; EEG abnormality; Epileptic encephalopathy; Feeding difficulties in infancy; Flexion contracture; Focal dystonia; Generalized hirsutism; Generalized hypotonia; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hemiplegia; High forehead; High palate; Hirsutism; Hyperconvex nail; Hyperreflexia; Hypohidrosis; Hypoplasia of penis; Hypospadias; Hypsarrhythmia; Infantile spasms; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb dystonia; Limb joint contracture; Lissencephaly; Long philtrum; Long upper lip; Low anterior hairline; Low-set ears; Lower limb spasticity; Malabsorption; Microcephaly; Micrognathia; Micropenis; Muscle stiffness; Muscular hypotonia; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nystagmus; Optic atrophy; Overlapping toe; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Prominent supraorbital ridges; Protruding ear; Renal dysplasia; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short stature; Spastic tetraplegia; Spasticity; Specific learning disability; Status epilepticus; Strabismus; Synophrys; Tapered finger; Tetraplegia; Thin upper lip vermilion; Triangular face; Ventriculomegaly; Visual impairment; Wide anterior fontanel; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ASPM1q31.3100%gene with protein product605481MCPH5Abnormal cortical bone morphology; Agenesis of corpus callosum; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Congenital onset; Cortical gyral simplification; Delayed speech and language development; Global developmental delay; Heterotopia; Highly arched eyebrow; Hyperreflexia; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Intellectual disability; Intellectual disability, severe; Microcephaly; Motor delay; Narrow forehead; Pachygyria; Proptosis; Short stature; Sloping forehead; Small cerebral cortex; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
ASPM1q31.3100%gene with protein product605481MCPH5Abnormal cortical bone morphology; Agenesis of corpus callosum; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Congenital onset; Cortical gyral simplification; Delayed speech and language development; Global developmental delay; Heterotopia; Highly arched eyebrow; Hyperreflexia; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Intellectual disability; Intellectual disability, severe; Microcephaly; Motor delay; Narrow forehead; Pachygyria; Proptosis; Short stature; Sloping forehead; Small cerebral cortex; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
ASXL120q11.21100%gene with protein product612990Abnormal anterior chamber morphology; Abnormality of cardiovascular system morphology; Abnormality of the optic nerve; Abnormality of the pancreas; Accessory oral frenulum; Agenesis of corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Broad alveolar ridges; Broad palm; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Convex nasal ridge; Dandy-Walker malformation; Death in infancy; Deep palmar crease; Deep plantar creases; Delayed peripheral myelination; Dislocated radial head; Elbow dislocation; Facial hemangioma; Failure to thrive; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Heterotopia; Hirsutism; Hyperechogenic pancreas; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, profound; Intellectual disability, severe; Intestinal malrotation; Intrauterine growth retardation; Limitation of joint mobility; Long face; Low anterior hairline; Low-set ears; Mesomelic/rhizomelic limb shortening; Microcephaly; Micrognathia; Myelodysplasia; Myopia; Narrow chest; Narrow forehead; Narrow palate; Nevus flammeus; Nevus flammeus of the forehead; Overlapping toe; Platyspondyly; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Prominent metopic ridge; Proptosis; Retinopathy; Retrognathia; Sacral dimple; Seizures; Short thorax; Short toe; Somatic mutation; Strabismus; Supernumerary nipple; Syndactyly; Synophrys; Tapered finger; Thick hair; Trigonocephaly; Ulnar deviation of finger; Ulnar deviation of the wrist; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Vesicoureteral reflux; Wide intermamillary distance; Wide nasal bridge
B3GALNT21q42.399.76%gene with protein product610194Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Gait disturbance; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the pons; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Specific learning disability; Strabismus; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
B3GLCT13q12.399.62%gene with protein productFormer name = B3GALTL610308B3GALTLAbnormal cardiac septum morphology; Abnormality of the pulmonary artery; Agenesis of corpus callosum; Agenesis of maxillary lateral incisor; Anterior chamber synechiae; Atrial septal defect; Autosomal recessive inheritance; Biliary tract abnormality; Bilobate gallbladder; Birth length less than 3rd percentile; Brachycephaly; Brachydactyly; Broad neck; Cataract; Cerebral atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Clitoral hypoplasia; Conical incisor; Corneal opacity; Craniosynostosis; Cryptorchidism; Decreased body weight; Decreased fetal movement; Diastasis recti; Disproportionate short-limb short stature; Facial hypertrichosis; Feeding difficulties in infancy; Frontal bossing; Glaucoma; Global developmental delay; Hemivertebrae; Hydrocephalus; Hydronephrosis; Hypertelorism; Hypoplasia of the uterus; Hypoplasia of the vagina; Hypoplastic labia majora; Hypospadias; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Joint laxity; Limited elbow movement; Long philtrum; Macrocephaly; Microcephaly; Microcornea; Micrognathia; Micromelia; Microtia, second degree; Myopia; Nystagmus; Pectus excavatum; Pes cavus; Peters anomaly; Polyhydramnios; Postnatal growth retardation; Preauricular pit; Preauricular skin tag; Prominent forehead; Protruding ear; Proximal placement of thumb; Ptosis; Pulmonic stenosis; Retinal coloboma; Rhizomelia; Round face; Scoliosis; Seizures; Short columella; Short foot; Short lingual frenulum; Short metacarpal; Short metatarsal; Short palm; Short palpebral fissure; Short toe; Single transverse palmar crease; Square pelvis bone; Stenosis of the external auditory canal; Syndactyly; Thin upper lip vermilion; Toe syndactyly; Umbilical hernia; Upslanted palpebral fissure; Ureteral duplication; Ventricular septal defect; Ventriculomegaly; Webbed neck; Wide anterior fontanel; Wide intermamillary distanceDisorders of Sex Development
B4GAT111q13.2100%gene with protein productFormer name = B3GNT1605517B3GNT6, B3GNT1Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anencephaly; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cerebellar hypoplasia; Chorioretinal dysplasia; Congenital onset; Corneal opacity; Cortical dysplasia; Cryptorchidism; Dandy-Walker malformation; Elevated serum creatine phosphokinase; Glaucoma; Global developmental delay; Hydrocephalus; Hydronephrosis; Hypoplasia of penis; Hypoplasia of the brainstem; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Micropenis; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Occipital encephalocele; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Spasticity; Specific learning disability; Type II lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
B4GAT111q13.2100%gene with protein productFormer name = B3GNT1605517B3GNT6, B3GNT1Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anencephaly; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cerebellar hypoplasia; Chorioretinal dysplasia; Congenital onset; Corneal opacity; Cortical dysplasia; Cryptorchidism; Dandy-Walker malformation; Elevated serum creatine phosphokinase; Glaucoma; Global developmental delay; Hydrocephalus; Hydronephrosis; Hypoplasia of penis; Hypoplasia of the brainstem; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Micropenis; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Occipital encephalocele; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Spasticity; Specific learning disability; Type II lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
BUB1B15q15.1100%gene with protein product602860Abnormality of vision; Agenesis of corpus callosum; Ambiguous genitalia; Anteverted nares; Ascites; Autosomal recessive inheritance; Bifid scrotum; Brachycephaly; Cataract; Cerebellar hypoplasia; Cerebral hypoplasia; Cleft palate; Combined immunodeficiency; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Epicanthus; Feeding difficulties in infancy; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Glaucoma; Global developmental delay; Hereditary nonpolyposis colorectal carcinoma; High forehead; Hydrocephalus; Hypertelorism; Hypodysplasia of the corpus callosum; Hypospadias; Increased nuchal translucency; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Leukemia; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Muscular dystrophy; Neoplasm of the stomach; Nephroblastoma; Nystagmus; Oligohydramnios; Phenotypic variability; Polyhydramnios; Posteriorly rotated ears; Postnatal growth retardation; Premature chromatid separation; Renal cell carcinoma; Renal cyst; Rhabdomyosarcoma; Severe global developmental delay; Short neck; Short nose; Short stature; Short sternum; Small for gestational age; Transitional cell carcinoma of the bladder; Triangular face; Triangular mouth; Upslanted palpebral fissure; Uterine leiomyosarcoma; Ventriculomegaly; Wide nose
C12ORF5712p13.31100%gene with protein product615140Agenesis of corpus callosum; Aortic aneurysm; Aortic regurgitation; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Brachydactyly; Chorioretinal coloboma; Coarse facial features; Convex nasal ridge; Dental crowding; Dolichocephaly; Downslanted palpebral fissures; Ectopia lentis; Frontal bossing; Generalized hypotonia; Genu varum; Global developmental delay; Highly arched eyebrow; Hip dislocation; Hypertelorism; Hypoplasia of teeth; Infantile onset; Intellectual disability; Intellectual disability, mild; Iris coloboma; Long face; Long philtrum; Lop ear; Low-set ears; Macrocephaly; Micrognathia; Myopia; Pes planus; Short 2nd toe; Short toe; Talipes equinovarus; Ventriculomegaly
CDK57q36.1100%gene with protein product123831Agenesis of corpus callosum; Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital onset; Full cheeks; Global developmental delay; Hand clenching; Hirsutism; Lissencephaly; Lymphedema; Microcephaly; Micrognathia; Short neck
CDK5RAP29q33.299.99%gene with protein product608201MCPH3Abnormal cortical bone morphology; Agenesis of corpus callosum; Autosomal recessive inheritance; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability, moderate; Intellectual disability, severe; Microcephaly; Pachygyria; Short stature; Sloping forehead; Small cerebral cortex; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
CDK67q21.2100%gene with protein product603368Abnormal cortical bone morphology; Agenesis of corpus callosum; Autosomal recessive inheritance; Cortical gyral simplification; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability; Intellectual disability, mild; Intellectual disability, severe; Microcephaly; Pachygyria; Short stature; Sloping forehead; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
CDON11q24.299.99%gene with protein product608707Agenesis of corpus callosum; Autosomal dominant inheritance; Cleft lip; Cleft palate; Delayed puberty; Ectopic posterior pituitary; Failure to thrive; Global developmental delay; Holoprosencephaly; Hypoglycemia; Hypoplasia of penis; Hypotelorism; Hypothyroidism; Microcephaly; Polysplenia; Proptosis; Short stature; Sporadic; Synophrys; Thick eyebrow; Variable expressivity
CENPF1q4199.99%gene with protein product600236Agenesis of corpus callosum; Autosomal recessive inheritance; Bilateral renal hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Duodenal atresia; StillbirthHeterotaxy
CENPJ13q12.12-q12100%gene with protein product609279MCPH611 pairs of ribs; Abnormal cortical bone morphology; Abnormality of dental enamel; Absent earlobe; Agenesis of corpus callosum; Autosomal recessive inheritance; Cachexia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Congenital onset; Convex nasal ridge; Craniosynostosis; Decreased body weight; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Global developmental delay; Heterogeneous; Heterotopia; High forehead; Hip dysplasia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability; Intellectual disability, moderate; Intellectual disability, severe; Intrauterine growth retardation; Joint hyperflexibility; Low-set ears; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Pachygyria; Prematurely aged appearance; Reduced number of teeth; Retrognathia; Sandal gap; Short stature; Sloping forehead; Small cerebral cortex; Sparse scalp hair; Steep acetabular roof; Thin upper lip vermilion; Underdeveloped nasal alae; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
CEP1354q1299.92%gene with protein product611423KIAA0635, CEP4Abnormal cortical bone morphology; Agenesis of corpus callosum; Autosomal recessive inheritance; Congenital onset; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability, severe; Microcephaly; Pachygyria; Retrognathia; Short stature; Sloping forehead; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
CEP15215q21.188.43%gene with protein product613529Abnormal cortical bone morphology; Abnormal cortical gyration; Abnormality of dental enamel; Absent earlobe; Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Bimanual synkinesia; Cachexia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Convex nasal ridge; Cortical gyral simplification; Craniosynostosis; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Global developmental delay; Heterotopia; High palate; Hip dysplasia; Hyperreflexia; Hypodontia; Hypoplasia of the frontal lobes; Impulsivity; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint hyperflexibility; Large beaked nose; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Oligodontia; Pachygyria; Prematurely aged appearance; Prominent nasal bridge; Reduced number of teeth; Retrognathia; Sandal gap; Short stature; Sloping forehead; Sparse scalp hair; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
CEP633q22.2100%gene with protein product614724Abnormal cortical bone morphology; Agenesis of corpus callosum; Autosomal recessive inheritance; Delayed speech and language development; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability; Intellectual disability, severe; Microcephaly; Pachygyria; Short stature; Sloping forehead; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
CIT12q24.23100%gene with protein product605629Abnormal cortical bone morphology; Agenesis of corpus callosum; Autosomal recessive inheritance; Bulbous nose; Cerebellar hypoplasia; Congenital onset; Cortical gyral simplification; Failure to thrive; Global developmental delay; Heterotopia; Hyperreflexia; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the frontal lobes; Intellectual disability; Intellectual disability, severe; Macrotia; Microcephaly; Pachygyria; Renal agenesis; Short stature; Sloping forehead; Spasticity; Thick vermilion border; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Variable expressivity; Ventriculomegaly; Vesicoureteral reflux
CIT12q24.23100%gene with protein product605629Abnormal cortical bone morphology; Agenesis of corpus callosum; Autosomal recessive inheritance; Bulbous nose; Cerebellar hypoplasia; Congenital onset; Cortical gyral simplification; Failure to thrive; Global developmental delay; Heterotopia; Hyperreflexia; Hypertelorism; Hypoplasia of the brainstem; Hypoplasia of the frontal lobes; Intellectual disability; Intellectual disability, severe; Macrotia; Microcephaly; Pachygyria; Renal agenesis; Short stature; Sloping forehead; Spasticity; Thick vermilion border; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Variable expressivity; Ventriculomegaly; Vesicoureteral reflux
COL4A113q3499.99%gene with protein product120130Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal dominant inheritance; Babinski sign; Blurred vision; Cerebellar atrophy; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Dilatation of the cerebral artery; Elevated serum creatine phosphokinase; Exotropia; Facial paralysis; Glaucoma; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia; Hemolytic anemia; Hydrocephalus; Hypopigmentation of the fundus; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Ischemic stroke; Leukoencephalopathy; Limb dystonia; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Migraine with aura; Multiple renal cysts; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Nephropathy; Optic atrophy; Pachygyria; Polymicrogyria; Porencephalic cyst; Posterior leukoencephalopathy; Raynaud phenomenon; Renal cyst; Renal insufficiency; Retinal arteriolar tortuosity; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retinal hemorrhage; Retinal vascular tortuosity; Schizencephaly; Scotoma; Seizures; Skeletal muscle atrophy; Spasticity; Specific learning disability; Supraventricular arrhythmia; Tetraparesis; Variable expressivity; Visual field defect; Visual lossHemolytic Anemia ; Muscular dystropy-dystroglycanopathy (Walker-Warburg)
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
CREBBP16p13.399.97%gene with protein product600140RSTSAbnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Hearing impairment; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Obstructive sleep apnea; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Truncal obesity; Unsteady gait; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeDisorders of Sex Development; Obesity
CYP11A115q24.1100%gene with protein product118485CYP11AAbnormal urine potassium concentration; Abnormality of cholesterol metabolism; Abnormality of the Leydig cells; Absence of secondary sex characteristics; Acidosis; Adrenal hypoplasia; Adrenal insufficiency; Adrenocorticotropic hormone excess; Agenesis of corpus callosum; Ambiguous genitalia, male; Aplasia of the uterus; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating androgen level; Decreased circulating cortisol level; Decreased fertility; Decreased testicular size; Dehydration; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Feeding difficulties; Female external genitalia in individual with 46,XY karyotype; Generalized bronze hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hyperkalemia; Hypernatriuria; Hyperpigmentation of the skin; Hyponatremia; Hypotension; Hypovolemia; Increased circulating ACTH level; Increased circulating renin level; Induced vaginal delivery; Low maternal serum estriol; Male pseudohermaphroditism; Neonatal hypoglycemia; Osteoporosis; Premature birth; Renal salt wasting; Sex reversal; Urogenital sinus anomaly; VomitingDisorders of Sex Development
CYP11A115q24.1100%gene with protein product118485CYP11AAbnormal urine potassium concentration; Abnormality of cholesterol metabolism; Abnormality of the Leydig cells; Absence of secondary sex characteristics; Acidosis; Adrenal hypoplasia; Adrenal insufficiency; Adrenocorticotropic hormone excess; Agenesis of corpus callosum; Ambiguous genitalia, male; Aplasia of the uterus; Cryptorchidism; Decreased circulating aldosterone level; Decreased circulating androgen level; Decreased circulating cortisol level; Decreased fertility; Decreased testicular size; Dehydration; Delayed puberty; Delayed skeletal maturation; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Failure to thrive; Feeding difficulties; Female external genitalia in individual with 46,XY karyotype; Generalized bronze hyperpigmentation; Gynecomastia; Hyperaldosteronism; Hyperkalemia; Hypernatriuria; Hyperpigmentation of the skin; Hyponatremia; Hypotension; Hypovolemia; Increased circulating ACTH level; Increased circulating renin level; Induced vaginal delivery; Low maternal serum estriol; Male pseudohermaphroditism; Neonatal hypoglycemia; Osteoporosis; Premature birth; Renal salt wasting; Sex reversal; Urogenital sinus anomaly; VomitingDisorders of Sex Development
DAG13p21.31100%gene with protein product128239Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Ankle contracture; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral calcification; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Elevated serum creatine phosphokinase; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Leukodystrophy; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Respiratory failure; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Skeletal muscle atrophy; Specific learning disability; Variable expressivity; VentriculomegalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
DCXXq23100%gene with protein product300121Agenesis of corpus callosum; Ataxia; Death in infancy; Dysarthria; Feeding difficulties; Hypertonia; Incomplete penetrance; Infantile onset; Intellectual disability; Intellectual disability, severe; Lissencephaly; Micropenis; Motor delay; Muscular hypotonia; Muscular hypotonia of the trunk; Nystagmus; Pachygyria; Postnatal growth retardation; Seizures; X-linked inheritance
DHCR241p32.3100%gene with protein product606418DCEAbsent septum pellucidum; Agenesis of corpus callosum; Anteverted nares; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bifid uvula; Depressed nasal bridge; Failure to thrive; Feeding difficulties; Hydrocephalus; Intellectual disability; Intrauterine growth retardation; Large earlobe; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Muscle stiffness; Narrow mouth; Nystagmus; Partial agenesis of the corpus callosum; Phenotypic variability; Relative macrocephaly; Retrognathia; Rigidity; Seizures; Severe short stature; Short nose; Spasticity; Status epilepticus; Strabismus; Submucous cleft hard palate; VentriculomegalyDisorders of Sex Development
DIS3L22q37.199.98%gene with protein product614184FAM6AAbdominal pain; Abnormal facial shape; Abnormality of pancreas morphology; Agenesis of corpus callosum; Anteverted nares; Ascites; Autosomal recessive inheritance; Broad alveolar ridges; Congenital diaphragmatic hernia; Cryptorchidism; Deeply set eye; Depressed nasal bridge; Distal ileal atresia; Edema; Epicanthus; Global developmental delay; Hepatomegaly; High forehead; High, narrow palate; Hyperinsulinemia; Hypoplasia of penis; Hypoplasia of the abdominal wall musculature; Intellectual disability; Interrupted aortic arch; Large for gestational age; Long upper lip; Low-set ears; Macrocephaly; Micrognathia; Muscular hypotonia; Nephroblastoma; Nephroblastomatosis; Nephrogenic rest; Open mouth; Pancreatic islet-cell hyperplasia; Polyhydramnios; Posteriorly rotated ears; Renal hamartoma; Retrognathia; Round face; Short nose; Smooth philtrum; Specific learning disability; Tall stature; Tented upper lip vermilion; Thickened helices; Visceromegaly; Volvulus; Wide nasal bridge
EML114q32.2100%gene with protein product602033EMAPLAgenesis of corpus callosum; Autosomal recessive inheritance; Global developmental delay; Heterotopia; Intellectual disability, severe; Macrocephaly; Polymicrogyria; Seizures; Sleep disturbance; Spasticity
EP30022q13.2100%gene with protein product602700Abnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Carious teeth; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Congenital onset; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed gross motor development; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Intellectual disability, mild; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Neoplasm of the stomach; Obstructive sleep apnea; Overbite; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Posterior helix pit; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Prominent nose; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Renal cell carcinoma; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Transitional cell carcinoma of the bladder; Truncal obesity; Unsteady gait; Uterine leiomyosarcoma; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeObesity
EPG518q12.3-q21.100%gene with protein product615068KIAA1632Abnormal posturing; Abnormality of retinal pigmentation; Abnormality of the thymus; Acidosis; Agenesis of corpus callosum; Albinism; Autosomal recessive inheritance; Cardiomyopathy; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Chronic mucocutaneous candidiasis; Cleft palate; Cleft upper lip; Congenital cataract; Congenital onset; Congestive heart failure; Cutaneous anergy; Death in infancy; Decreased proportion of CD4-positive T cells; Decreased T cell activation; Depressed nasal tip; Dilated cardiomyopathy; EEG abnormality; Failure to thrive; Generalized hypotonia; Global developmental delay; Growth delay; High palate; Hypertelorism; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypoplasia of the pons; IgG deficiency; Immunodeficiency; Immunoglobulin IgG2 deficiency; Intellectual disability; Left ventricular hypertrophy; Low-set ears; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Myopathy; Nystagmus; Ocular albinism; Optic atrophy; Penile hypospadias; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Renal tubular acidosis; Schizencephaly; Seizures; Short stature; Ureteral atresia; White matter neuronal heterotopiaAlbinism
EPG518q12.3-q21.100%gene with protein product615068KIAA1632Abnormal posturing; Abnormality of retinal pigmentation; Abnormality of the thymus; Acidosis; Agenesis of corpus callosum; Albinism; Autosomal recessive inheritance; Cardiomyopathy; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Chronic mucocutaneous candidiasis; Cleft palate; Cleft upper lip; Congenital cataract; Congenital onset; Congestive heart failure; Cutaneous anergy; Death in infancy; Decreased proportion of CD4-positive T cells; Decreased T cell activation; Depressed nasal tip; Dilated cardiomyopathy; EEG abnormality; Failure to thrive; Generalized hypotonia; Global developmental delay; Growth delay; High palate; Hypertelorism; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypoplasia of the pons; IgG deficiency; Immunodeficiency; Immunoglobulin IgG2 deficiency; Intellectual disability; Left ventricular hypertrophy; Low-set ears; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Myopathy; Nystagmus; Ocular albinism; Optic atrophy; Penile hypospadias; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Renal tubular acidosis; Schizencephaly; Seizures; Short stature; Ureteral atresia; White matter neuronal heterotopiaAlbinism
ERCC610q11.23100%gene with protein product609413CKN2Abnormal auditory evoked potentials; Abnormal nasal morphology; Abnormal peripheral myelination; Abnormality of immune system physiology; Abnormality of skin pigmentation; Abnormality of the hair; Abnormality of the pinna; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anhidrosis; Aplasia/Hypoplasia of the cerebellum; Areflexia; Arrhythmia; Arthrogryposis multiplex congenita; Ataxia; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Blepharophimosis; Camptodactyly; Camptodactyly of finger; Carious teeth; Cataract; Cerebellar atrophy; Cerebellar calcifications; Cerebellar hypoplasia; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Choreoathetosis; Conjunctivitis; Coxa valga; Cryptorchidism; Cutaneous photosensitivity; Death in childhood; Death in infancy; Decreased lacrimation; Decreased nerve conduction velocity; Deep longitudinal plantar crease; Deeply set eye; Defective DNA repair after ultraviolet radiation damage; Delayed eruption of primary teeth; Delayed myelination; Dental malocclusion; Dermal atrophy; Dry hair; Dry skin; Ectropion; Elbow flexion contracture; Elevated circulating follicle stimulating hormone level; Entropion; Everted lower lip vermilion; Failure to thrive; Feeding difficulties in infancy; Freckling; Generalized hypotonia; Gliosis; Gonadal hypoplasia; Hepatomegaly; Heterogeneous; Hirsutism; Hypermetropia; Hypertension; Hypertonia; Hypogonadism; Hypoplasia of teeth; Hypoplasia of the iris; Hypoplastic iliac wing; Hypoplastic pelvis; Hyporeflexia; Increased cellular sensitivity to UV light; Infantile onset; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Ivory epiphyses of the phalanges of the hand; Joint contracture of the hand; Joint stiffness; Keratitis; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limitation of joint mobility; Long philtrum; Loss of facial adipose tissue; Mandibular prognathia; Mental deterioration; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscle weakness; Muscular hypotonia; Neoplasm; Normal pressure hydrocephalus; Nystagmus; Oligomenorrhea; Olivopontocerebellar atrophy; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Patchy demyelination of subcortical white matter; Peripheral dysmyelination; Photophobia; Pigmentary retinopathy; Pigmentation anomalies of sun-exposed skin; Poikiloderma; Polyneuropathy; Postnatal growth retardation; Progeroid facial appearance; Prominent metopic ridge; Prominent nasal bridge; Proteinuria; Reduced subcutaneous adipose tissue; Reduced tendon reflexes; Renal insufficiency; Rocker bottom foot; Second metatarsal posteriorly placed; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Severe failure to thrive; Severe global developmental delay; Severe short stature; Short neck; Short stature; Slender nose; Sloping forehead; Small for gestational age; Sparse hair; Spasticity; Splenomegaly; Square pelvis bone; Strabismus; Subcortical white matter calcifications; Telangiectasia; Thickened calvaria; Thin vermilion border; Tremor; Visual impairment; Wide intermamillary distance; Wide nasal bridgeAplastic Anemia ; Bone Marrow Failure Syndromes
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FGFR210q26.13100%gene with protein product176943KGFR, BEK, CFD1, JWS2-3 finger syndactyly; 2-3 toe syndactyly; Abnormal facial shape; Abnormal heart morphology; Abnormal morphology of the limbic system; Abnormal morphology of the nasolacrimal system; Abnormal renal morphology; Abnormality of cardiovascular system morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the antihelix; Abnormality of the cervical spine; Abnormality of the nasopharynx; Abnormality of the palate; Abnormality of the pancreas; Abnormality of the periosteum; Abnormality of the pinna; Abnormality of the ribs; Absence of Stensen duct; Absent first metatarsal; Absent lacrimal punctum; Absent proximal phalanx of thumb; Absent radius; Absent septum pellucidum; Acanthosis nigricans; Acne; Acrobrachycephaly; Agenesis of corpus callosum; Alacrima; Anomalous tracheal cartilage; Anteriorly placed anus; Anteverted nares; Aplasia of the parotid gland; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thumb; Aqueductal stenosis; Arachnodactyly; Arachnoid cyst; Arnold-Chiari malformation; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bell-shaped thorax; Bicoronal synostosis; Bifid scrotum; Bifid uvula; Bilateral single transverse palmar creases; Bilateral triphalangeal thumbs; Blepharospasm; Brachycephaly; Brachydactyly; Brachyturricephaly; Breast carcinoma; Broad distal hallux; Broad distal phalanx of the thumb; Broad forehead; Broad hallux; Broad hallux phalanx; Broad metatarsal; Broad thumb; Bronchomalacia; Buphthalmos; Calcaneonavicular fusion; Camptodactyly; Camptodactyly of finger; Carious teeth; Cartilaginous trachea; Cerebellar hypoplasia; Cervical C5/C6 vertebrae fusion; Choanal atresia; Choanal stenosis; Chronic otitis media; Cleft of chin; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Cloverleaf skull; Conductive hearing impairment; Congenital stationary night blindness; Conical incisor; Conjunctivitis; Convex nasal ridge; Corneal perforation; Coronal craniosynostosis; Coronal hypospadias; Craniofacial dysostosis; Craniosynostosis; Cryptorchidism; Cupped ear; Cutaneous finger syndactyly; Dacryocystitis; Decreased calvarial ossification; Delayed cranial suture closure; Delayed eruption of primary teeth; Delayed eruption of teeth; Dental crowding; Dental malocclusion; Depressed nasal bridge; Deviation of the thumb; Dolichocephaly; Downslanted palpebral fissures; Dysgerminoma; Ectopic anus; Elbow ankylosis; Esophageal atresia; External ear malformation; Extramedullary hematopoiesis; Facial asymmetry; Feeding difficulties in infancy; Femoral bowing; Finger syndactyly; Flat face; Flat forehead; Frontal bossing; Fused labia minora; Gingival overgrowth; Global developmental delay; Growth abnormality; Hallux valgus; Hallux varus; Hearing abnormality; Hearing impairment; High forehead; High palate; Hirsutism; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hyperextensible skin; Hyperlordosis; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the lacrimal punctum; Hypoplasia of the maxilla; Hypoplasia of the radius; Hypoplasia of the ulna; Hypoplasia of the zygomatic bone; Hypoplastic ischia; Hypoplastic labia majora; Hypoplastic lacrimal duct; Incomplete ossification of pubis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Joint stiffness; Lacrimal gland aplasia; Lacrimal gland hypoplasia; Lambdoidal craniosynostosis; Large fontanelles; Laryngomalacia; Limitation of joint mobility; Limited elbow extension; Long nose; Long philtrum; Low anterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Malar flattening; Mandibular prognathia; Megalencephaly; Megalocornea; Melanocytic nevus; Metopic depression; Micrognathia; Microtia; Midface retrusion; Mixed hearing impairment; Morphological abnormality of the semicircular canal; Multiple suture craniosynostosis; Narrow chest; Narrow internal auditory canal; Narrow nose; Narrow palate; Narrow pelvis bone; Nasolacrimal duct obstruction; Natal tooth; Nephrosclerosis; Open bite; Optic atrophy; Osteopenia; Overfolding of the superior helices; Overriding aorta; Oxycephaly; Palmoplantar cutis gyrata; Palmoplantar cutis laxa; Palmoplantar keratoderma; Parietal foramina; Partial duplication of the distal phalanx of the 2nd finger; Partial duplication of the distal phalanx of the 3rd finger; Partial duplication of thumb phalanx; Periorbital fullness; Plagiocephaly; Posterior fossa cyst; Preauricular skin furrow; Preaxial polydactyly; Prominent crus of helix; Prominent nasal bridge; Prominent scrotal raphe; Proptosis; Ptosis; Pyloric stenosis; Radial deviation of the 3rd finger; Radioulnar synostosis; Recurrent corneal erosions; Reduced number of teeth; Renal agenesis; Respiratory distress; Rocker bottom foot; Sagittal craniosynostosis; Seizures; Shallow orbits; Short clavicles; Short foot; Short hallux; Short metatarsal; Short middle phalanx of toe; Short nose; Short palm; Short stature; Shortening of all middle phalanges of the fingers; Skull asymmetry; Sleep apnea; Small hand; Small nail; Small thenar eminence; Somatic mutation; Steep acetabular roof; Stenosis of the external auditory canal; Stomach cancer; Strabismus; Subcutaneous nodule; Syndactyly; Synostosis of carpal bones; Telecanthus; Toe syndactyly; Tracheomalacia; Turricephaly; Ulnar bowing; Underdeveloped supraorbital ridges; Upper airway obstruction; Vaginal atresia; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide anterior fontanel; XerostomiaDisorders of Sex Development; Short-Rib Thoracic Dysplasia
FH1q43100%gene with protein product136850Abnormality of the musculature; Adrenal pheochromocytoma; Agenesis of corpus callosum; Aminoaciduria; Anteverted nares; Autosomal recessive inheritance; Cerebral atrophy; Cerebral hemorrhage; Chest pain; Cholestasis; Choroid plexus cyst; Cutaneous leiomyoma; Depressed nasal bridge; Dysphonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flushing; Frontal bossing; Generalized hypotonia; Global developmental delay; Glomerulosclerosis; Hepatic failure; High palate; Hypercalcemia; Hypertelorism; Hypertensive retinopathy; Hypoplasia of the brainstem; Intellectual disability, profound; Lactic acidosis; Metabolic acidosis; Microcephaly; Multiple cutaneous leiomyomas; Nausea; Neurological speech impairment; Open operculum; Optic atrophy; Pallor; Palpitations; Paraganglioma of head and neck; Paroxysmal vertigo; Polycythemia; Polymicrogyria; Positive regitine blocking test; Proteinuria; Pruritus; Pulsatile tinnitus; Recurrent paroxysmal headache; Reduced subcutaneous adipose tissue; Relative macrocephaly; Sinus tachycardia; Status epilepticus; Visual impairment; Weight lossNephrotic Syndrome ; Rhabdomyolysis
FIG46q2199.96%gene with protein product609390KIAA0274Abnormal pelvis bone morphology; Abnormality of blood and blood-forming tissues; Abnormality of dental structure; Abnormality of the neck; Abnormality of the occipital bone; Abnormality of the parietal bone; Abnormality of the scapula; Absent nipple; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Aggressive behavior; Amyotrophic lateral sclerosis; Ankle contracture; Anteverted nares; Anxiety; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the hallux; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Aplastic clavicles; Areflexia; Arrhinencephaly; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal loss; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Bulbar signs; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Cryptorchidism; Decreased motor nerve conduction velocity; Decreased nerve conduction velocity; Decreased skull ossification; Depressivity; Distal arthrogryposis; Distal muscle weakness; Distal sensory impairment; Dolichocephaly; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Focal seizures with impairment of consciousness or awareness; Frequent falls; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Generalized neonatal hypotonia; Global developmental delay; Hearing impairment; High forehead; High, narrow palate; Hip dislocation; Hydrops fetalis; Hypertelorism; Hypoplasia of the frontal lobes; Hypoplastic facial bones; Hyporeflexia; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Metatarsus adductus; Microcephaly; Micrognathia; Micropenis; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Onion bulb formation; Pachygyria; Pain; Paralysis; Peripheral hypomyelination; Polyhydramnios; Polymicrogyria; Postnatal growth retardation; Premature birth; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Pyloric stenosis; Redundant neck skin; Respiratory failure; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Severe global developmental delay; Short chin; Short clavicles; Short finger; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short toe; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Skeletal muscle atrophy; Small earlobe; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Status epilepticus; Syndactyly; Tapered finger; Tapered toe; Tetralogy of Fallot; Thin vermilion border; Toe syndactyly; Upper motor neuron dysfunction; Upslanted palpebral fissure; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visual hallucinations; Wide cranial sutures; XerostomiaDisorders of Sex Development
FIG46q2199.96%gene with protein product609390KIAA0274Abnormal pelvis bone morphology; Abnormality of blood and blood-forming tissues; Abnormality of dental structure; Abnormality of the neck; Abnormality of the occipital bone; Abnormality of the parietal bone; Abnormality of the scapula; Absent nipple; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Aggressive behavior; Amyotrophic lateral sclerosis; Ankle contracture; Anteverted nares; Anxiety; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the distal phalanges of the hand; Aplasia/Hypoplasia of the hallux; Aplasia/Hypoplasia of the middle phalanges of the hand; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Aplastic clavicles; Areflexia; Arrhinencephaly; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal loss; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Bulbar signs; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Cryptorchidism; Decreased motor nerve conduction velocity; Decreased nerve conduction velocity; Decreased skull ossification; Depressivity; Distal arthrogryposis; Distal muscle weakness; Distal sensory impairment; Dolichocephaly; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Focal seizures with impairment of consciousness or awareness; Frequent falls; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Generalized neonatal hypotonia; Global developmental delay; Hearing impairment; High forehead; High, narrow palate; Hip dislocation; Hydrops fetalis; Hypertelorism; Hypoplasia of the frontal lobes; Hypoplastic facial bones; Hyporeflexia; Hypospadias; Intrauterine growth retardation; Large fontanelles; Low-set ears; Metatarsus adductus; Microcephaly; Micrognathia; Micropenis; Muscle cramps; Neurodegeneration; Neuronal loss in central nervous system; Onion bulb formation; Pachygyria; Pain; Paralysis; Peripheral hypomyelination; Polyhydramnios; Polymicrogyria; Postnatal growth retardation; Premature birth; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Pyloric stenosis; Redundant neck skin; Respiratory failure; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Severe global developmental delay; Short chin; Short clavicles; Short finger; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short toe; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Skeletal muscle atrophy; Small earlobe; Sparse and thin eyebrow; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Spasticity; Status epilepticus; Syndactyly; Tapered finger; Tapered toe; Tetralogy of Fallot; Thin vermilion border; Toe syndactyly; Upper motor neuron dysfunction; Upslanted palpebral fissure; Variable expressivity; Ventricular septal defect; Ventriculomegaly; Visual hallucinations; Wide cranial sutures; XerostomiaDisorders of Sex Development
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
FKTN9q31.299.98%gene with protein product607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FKTN9q31.299.98%gene with protein product607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FKTN9q31.299.98%gene with protein product607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FLVCR214q24.3100%gene with protein product610865C14orf58Abnormality of metabolism/homeostasis; Agenesis of corpus callosum; Autosomal recessive inheritance; Cerebellar hypoplasia; Dandy-Walker malformation; Flexion contracture; Hydranencephaly; Hydrocephalus; Hypoplasia of the brainstem; Intrauterine growth retardation; Micrognathia; Polyhydramnios; Premature birth
FOXG114q1299.71%gene with protein product164874FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1AAbnormality of movement; Abnormality of the antihelix; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Agenesis of corpus callosum; Aplasia/Hypoplasia of the cerebellum; Apraxia; Athetosis; Autosomal dominant inheritance; Blepharophimosis; Bruxism; Bulbous nose; Camptodactyly of finger; Cerebral cortical atrophy; Chorea; Clinodactyly of the 5th finger; Constipation; Cortical gyral simplification; Delayed myelination; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Drooling; Dyskinesia; Dystonia; EEG abnormality; Epicanthus; Everted lower lip vermilion; Excessive salivation; Feeding difficulties; Fine hair; Gastroesophageal reflux; Growth delay; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Kyphosis; Long philtrum; Macroglossia; Mandibular prognathia; Microcephaly; Motor delay; Muscular hypotonia; Neonatal hypotonia; Nephrolithiasis; Pachygyria; Palpebral edema; Pes planus; Poor eye contact; Progressive microcephaly; Prominent metopic ridge; Protruding ear; Scoliosis; Seizures; Short nose; Smooth philtrum; Spasticity; Sporadic; Stereotypy; Talipes equinovarus; Tented upper lip vermilion; Thick vermilion border; Tongue thrusting; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
GABRD1p36.3399.97%gene with protein product137163Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
GCSH16q23.299.99%gene with protein product238330Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Death in infancy; Encephalopathy; Generalized hypotonia; Hyperactivity; Hyperglycinemia; Hyperglycinuria; Hyperreflexia; Impulsivity; Intellectual disability; Irritability; Lethargy; Myoclonus; Recurrent singultus; Restlessness; Seizures
GDF119p13.11100%gene with protein product602880Abnormal lung lobation; Abnormal nasal morphology; Abnormality of metabolism/homeostasis; Agenesis of corpus callosum; Anomalous pulmonary venous return; Asplenia; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachydactyly; Broad forehead; Broad hallux; Clinodactyly of the 5th finger; Coarctation of aorta; Common atrium; Complete atrioventricular canal defect; Cryptorchidism; Dolichocephaly; Double outlet right ventricle; Intrauterine growth retardation; Polysplenia; Postaxial polydactyly; Preauricular pit; Proptosis; Pulmonary artery atresia; Pulmonic stenosis; Right atrial isomerism; Situs inversus totalis; Tetralogy of Fallot; Thin vermilion border; Transposition of the great arteries; Truncus arteriosus; Underdeveloped supraorbital ridges; Ventricular septal defectHeterotaxy
GLDC9p24.199.99%gene with protein product238300Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Death in infancy; Encephalopathy; Generalized hypotonia; Hyperactivity; Hyperglycinemia; Hyperglycinuria; Hyperreflexia; Impulsivity; Intellectual disability; Irritability; Lethargy; Myoclonus; Recurrent singultus; Restlessness; Seizures
GPC3Xq26.299.97%gene with protein product300037SDYS2-3 finger syndactyly; Abdominal pain; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritanceObesity
GPC4Xq26.2100%gene with protein product3001682-3 finger syndactyly; Abnormal lung lobation; Abnormality of the helix; Abnormality of the ribs; Accelerated skeletal maturation; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Atrial septal defect; Autosomal dominant inheritance; Birth length greater than 97th percentile; Broad foot; Broad palm; Broad secondary alveolar ridge; Broad thumb; Broad toe; Bundle branch block; Camptodactyly of finger; Cardiomyopathy; Cerebellar vermis hypoplasia; Cervical ribs; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Cryptorchidism; Death in infancy; Dental malocclusion; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Duplication of renal pelvis; Enlarged kidney; Epicanthus; Finger syndactyly; Flared iliac wings; Generalized hypotonia; Hearing impairment; Hepatomegaly; Heterogeneous; High, narrow palate; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoglycemia; Hypospadias; Increased IgE level; Inguinal hernia; Intestinal malrotation; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Mandibular prognathia; Meckel diverticulum; Multicystic kidney dysplasia; Nail dysplasia; Narrow sacroiliac notch; Nephroblastoma; Neurological speech impairment; Omphalocele; Pancreatic islet-cell hyperplasia; Patent ductus arteriosus; Pectus excavatum; Polyhydramnios; Polysplenia; Postaxial hand polydactyly; Posterior helix pit; Preauricular pit; Preauricular skin tag; Prolonged QT interval; Pulmonic stenosis; Renal cyst; Scoliosis; Short 2nd finger; Short distal phalanx of finger; Short foot; Short neck; Short nose; Short palm; Short sacroiliac notch; Short toe; Six lumbar vertebrae; Small nail; Somatic mutation; Splenomegaly; Submucous cleft lip; Supernumerary nipple; Talipes equinovarus; Tall stature; Toe syndactyly; Transposition of the great arteries; Two carpal ossification centers present at birth; Umbilical hernia; Ureteral duplication; Ventricular septal defect; Vertebral fusion; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
HCCSXp22.2100%gene with protein product300056MLSAbnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Anteriorly placed anus; Arrhythmia; Asymmetric, linear skin defects; Atrial septal defect; Cataract; Chordee; Clitoral hypertrophy; Colpocephaly; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Erythema; Hearing impairment; Histiocytoid cardiomyopathy; Hydrocephalus; Hyperpigmentation of the skin; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Hypoplasia of the uterus; Hypospadias; Iris coloboma; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Overriding aorta; Ovotestis; Pigmentary retinopathy; Retrognathia; Sclerocornea; Seizures; Severe short stature; Short stature; Ventricular septal defect; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritanceDisorders of Sex Development
HESX13p14.399.93%gene with protein product601802Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Amenorrhea; Anosmia; Anterior hypopituitarism; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Central hypothyroidism; Cleft palate; Coarse facial features; Constipation; Cryptorchidism; Decreased circulating ACTH level; Decreased fertility; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Diabetes insipidus; Ectopic posterior pituitary; Erectile abnormalities; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyposmia; Hypotension; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Micropenis; Muscular hypotonia; Nystagmus; Optic disc hypoplasia; Optic nerve hypoplasia; Oral cleft; Osteopenia; Phenotypic variability; Pituitary hypothyroidism; Polydactyly; Reduced bone mineral density; Seizures; Septo-optic dysplasia; Short finger; Short stature; Sleep disturbance; Strabismus; Umbilical hernia; Visual impairment
HESX13p14.399.93%gene with protein product601802Abdominal distention; Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the hypothalamus-pituitary axis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Amenorrhea; Anosmia; Anterior hypopituitarism; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Breast hypoplasia; Central hypothyroidism; Cleft palate; Coarse facial features; Constipation; Cryptorchidism; Decreased circulating ACTH level; Decreased fertility; Decreased testicular size; Delayed puberty; Depressed nasal ridge; Diabetes insipidus; Ectopic posterior pituitary; Erectile abnormalities; Failure to thrive; Fatigue; Feeding difficulties; Global developmental delay; Growth hormone deficiency; Hemiplegia/hemiparesis; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyposmia; Hypotension; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Infertility; Intellectual disability; Jaundice; Large fontanelles; Micropenis; Muscular hypotonia; Nystagmus; Optic disc hypoplasia; Optic nerve hypoplasia; Oral cleft; Osteopenia; Phenotypic variability; Pituitary hypothyroidism; Polydactyly; Reduced bone mineral density; Seizures; Septo-optic dysplasia; Short finger; Short stature; Sleep disturbance; Strabismus; Umbilical hernia; Visual impairment
HIBCH2q32.299.98%gene with protein product610690Abnormal facial shape; Abnormal vertebral morphology; Agenesis of corpus callosum; Aminoaciduria; Autosomal recessive inheritance; Developmental regression; Dysmetria; Dystonia; Epicanthus; Feeding difficulties; Generalized hypotonia; Global developmental delay; Infantile onset; Muscular hypotonia; Myoclonus; Nystagmus; Seizures; Strabismus; Tetralogy of Fallot
HNRNPU1q4499.91%gene with protein product602869HNRPU, HNRNPU-AS1, C1orf199, NCRNA00201Abnormal cardiac septum morphology; Agenesis of corpus callosum; Autosomal dominant inheritance; Delayed myelination; Delayed speech and language development; EEG abnormality; Epicanthus; Epileptic encephalopathy; Generalized hypotonia; Generalized tonic-clonic seizures; Global developmental delay; Hypertelorism; Infantile onset; Intellectual disability; Intellectual disability, severe; Microcephaly; Micrognathia; Muscular hypotonia; Seizures; Short stature; Smooth philtrum; Strabismus; Telecanthus; Thin vermilion border; Upslanted palpebral fissure; Ventriculomegaly
HSPA95q31.299.99%gene with protein product600548HSPA9BAgenesis of corpus callosum; Atopic dermatitis; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Coronal cleft vertebrae; Dysplasia of the femoral head; Epiphyseal dysplasia; High palate; Highly arched eyebrow; Hypodontia; Midface retrusion; Oligohydramnios; Patent foramen ovale; Recurrent urinary tract infections; Renal hypoplasia; Severe short stature; Short neck; Short nose; Sideroblastic anemia; Sparse hair
HYLS111q24.2100%gene with protein product610693Abnormal cortical gyration; Abnormality of cardiovascular system morphology; Abnormality of the sense of smell; Abnormality of the vagina; Absent septum pellucidum; Accessory spleen; Adrenal gland dysgenesis; Agenesis of corpus callosum; Agenesis of the diaphragm; Apnea; Arrhinencephaly; Ataxia; Autosomal recessive inheritance; Bifid nose; Bifid uvula; Biparietal narrowing; Broad neck; Cerebellar vermis hypoplasia; Dandy-Walker malformation; Deeply set eye; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Gingival cleft; Global developmental delay; Heterotopia; Hydrocephalus; Intellectual disability; Intrauterine growth retardation; Laryngomalacia; Long face; Low-set, posteriorly rotated ears; Median cleft lip; Micrognathia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Omphalocele; Polyhydramnios; Postaxial hand polydactyly; Preaxial hand polydactyly; Premature birth; Proximal tibial hypoplasia; Retrognathia; Submucous cleft hard palate; Tracheal atresia; Unilateral cleft lip; Ventricular septal defect
HYLS111q24.2100%gene with protein product610693Abnormal cortical gyration; Abnormality of cardiovascular system morphology; Abnormality of the sense of smell; Abnormality of the vagina; Absent septum pellucidum; Accessory spleen; Adrenal gland dysgenesis; Agenesis of corpus callosum; Agenesis of the diaphragm; Apnea; Arrhinencephaly; Ataxia; Autosomal recessive inheritance; Bifid nose; Bifid uvula; Biparietal narrowing; Broad neck; Cerebellar vermis hypoplasia; Dandy-Walker malformation; Deeply set eye; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Gingival cleft; Global developmental delay; Heterotopia; Hydrocephalus; Intellectual disability; Intrauterine growth retardation; Laryngomalacia; Long face; Low-set, posteriorly rotated ears; Median cleft lip; Micrognathia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Omphalocele; Polyhydramnios; Postaxial hand polydactyly; Preaxial hand polydactyly; Premature birth; Proximal tibial hypoplasia; Retrognathia; Submucous cleft hard palate; Tracheal atresia; Unilateral cleft lip; Ventricular septal defect
IGBP1Xq13.199.97%gene with protein product300139IBP1Agenesis of corpus callosum; Broad neck; Choanal atresia; Cleft palate; Cupped ear; Downslanted palpebral fissures; High forehead; High palate; Intellectual disability; Iris coloboma; Low-set ears; Macrocephaly; Nystagmus; Optic nerve coloboma; Patent ductus arteriosus; Pectus excavatum; Prominent nasal bridge; Retrognathia; Scoliosis; Sensorineural hearing impairment; Short neck; Short stature; Ventricular septal defect; Visual impairment; X-linked recessive inheritance
IGBP1Xq13.199.97%gene with protein product300139IBP1Agenesis of corpus callosum; Broad neck; Choanal atresia; Cleft palate; Cupped ear; Downslanted palpebral fissures; High forehead; High palate; Intellectual disability; Iris coloboma; Low-set ears; Macrocephaly; Nystagmus; Optic nerve coloboma; Patent ductus arteriosus; Pectus excavatum; Prominent nasal bridge; Retrognathia; Scoliosis; Sensorineural hearing impairment; Short neck; Short stature; Ventricular septal defect; Visual impairment; X-linked recessive inheritance
ISPD7p21.299.96%gene with protein product614631Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Calf muscle hypertrophy; Cataract; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Deeply set eye; Elevated serum creatine phosphokinase; Encephalocele; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Hydrocephalus; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Limb-girdle muscular dystrophy; Lissencephaly; Low-set ears; Macrocephaly; Macroglossia; Macrogyria; Metatarsus valgus; Microphthalmia; Microtia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Partial agenesis of the corpus callosum; Peters anomaly; Polymicrogyria; Remnants of the hyaloid vascular system; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Retrognathia; Scapular winging; Skeletal muscle atrophy; Slow progression; Specific learning disability; Type II lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
KAT6B10q22.299.98%gene with protein product605880MYST4Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the antihelix; Abnormality of the cheek; Abnormality of the spleen; Agenesis of corpus callosum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Arthrogryposis multiplex congenita; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral single transverse palmar creases; Blepharophimosis; Brachydactyly; Bulbous nose; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Coarse facial features; Coarse hair; Colpocephaly; Congenital hip dislocation; Cryptorchidism; Cystic hygroma; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Downslanted palpebral fissures; Dysarthria; Dysphagia; Ectopic thyroid; Enlarged labia minora; Enlarged thorax; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatomegaly; High forehead; High palate; Hip contracture; Hydronephrosis; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplastic ilia; Hypoplastic inferior pubic rami; Hypoplastic ischia; Hypothyroidism; Intellectual disability; Intellectual disability, progressive; Joint hyperflexibility; Knee flexion contracture; Laryngomalacia; Long nose; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Midface retrusion; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Patellar aplasia; Patellar dislocation; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Periventricular gray matter heterotopia; Polyhydramnios; Posteriorly rotated ears; Prominent nasal bridge; Prominent nose; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonary hypoplasia; Recurrent respiratory infections; Retrognathia; Scoliosis; Scrotal hypoplasia; Seizures; Severe short stature; Short palm; Short palpebral fissure; Short phalanx of finger; Short stature; Sloping forehead; Sparse scalp hair; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Thyroid agenesis; Thyroid hypoplasia; Triangular face; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide noseDisorders of Sex Development; Ectodermal Dysplasia
KAT6B10q22.299.98%gene with protein product605880MYST4Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the antihelix; Abnormality of the cheek; Abnormality of the spleen; Agenesis of corpus callosum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Arthrogryposis multiplex congenita; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral single transverse palmar creases; Blepharophimosis; Brachydactyly; Bulbous nose; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Coarse facial features; Coarse hair; Colpocephaly; Congenital hip dislocation; Cryptorchidism; Cystic hygroma; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Downslanted palpebral fissures; Dysarthria; Dysphagia; Ectopic thyroid; Enlarged labia minora; Enlarged thorax; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatomegaly; High forehead; High palate; Hip contracture; Hydronephrosis; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplastic ilia; Hypoplastic inferior pubic rami; Hypoplastic ischia; Hypothyroidism; Intellectual disability; Intellectual disability, progressive; Joint hyperflexibility; Knee flexion contracture; Laryngomalacia; Long nose; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Midface retrusion; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Patellar aplasia; Patellar dislocation; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Periventricular gray matter heterotopia; Polyhydramnios; Posteriorly rotated ears; Prominent nasal bridge; Prominent nose; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonary hypoplasia; Recurrent respiratory infections; Retrognathia; Scoliosis; Scrotal hypoplasia; Seizures; Severe short stature; Short palm; Short palpebral fissure; Short phalanx of finger; Short stature; Sloping forehead; Sparse scalp hair; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Thyroid agenesis; Thyroid hypoplasia; Triangular face; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide noseDisorders of Sex Development; Ectodermal Dysplasia
KCNAB21p36.31100%gene with protein product601142Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
KIAA075317p13.199.99%gene with protein product617112Agenesis of corpus callosum; Anteverted nares; Autosomal recessive inheritance; Broad hallux; Flat face; Hypertelorism; Lobulated tongue; Molar tooth sign on MRI; Ventriculomegaly; Wide nasal bridge
KIF141q32.199.59%gene with protein product611279Abnormal cortical bone morphology; Agenesis of corpus callosum; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral hypoplasia; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability, severe; Intrauterine growth retardation; Microcephaly; Oligohydramnios; Pachygyria; Renal agenesis; Renal hypoplasia; Rocker bottom foot; Short stature; Sloping forehead; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
KIF141q32.199.59%gene with protein product611279Abnormal cortical bone morphology; Agenesis of corpus callosum; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral hypoplasia; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability, severe; Intrauterine growth retardation; Microcephaly; Oligohydramnios; Pachygyria; Renal agenesis; Renal hypoplasia; Rocker bottom foot; Short stature; Sloping forehead; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
KIF715q26.199.94%gene with protein product611254Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of epiphysis morphology; Abnormality of the sense of smell; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the corpus callosum; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid distal phalanx of the thumb; Bifid uvula; Brachydactyly; Brain atrophy; Broad forehead; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Dandy-Walker malformation; Deeply set eye; Downslanted palpebral fissures; Duplication of phalanx of hallux; Duplication of thumb phalanx; Epicanthus; Failure to thrive; Finger syndactyly; Frontal bossing; Genu valgum; Gingival cleft; Growth delay; Heterogeneous; Hydrocephalus; Hypertelorism; Hypopigmentation of the fundus; Inguinal hernia; Intellectual disability, severe; Joint dislocation; Laryngomalacia; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Malar flattening; Micrognathia; Molar tooth sign on MRI; Multiple epiphyseal dysplasia; Obesity; Osteoarthritis; Pectus carinatum; Pectus excavatum; Phenotypic variability; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Postaxial polydactyly; Postnatal growth retardation; Preauricular skin tag; Preaxial foot polydactyly; Preaxial hand polydactyly; Preaxial polydactyly; Premature birth; Prominent forehead; Prominent occiput; Rectovaginal fistula; Retrognathia; Short neck; Short nose; Sloping forehead; Submucous cleft hard palate; Toe syndactyly; Tracheal atresia; Triangular mouth; Triphalangeal thumb; Umbilical hernia; Unilateral cleft lip; Ventriculomegaly; Wide anterior fontanelHeterotaxy
KNL115q15.198.19%gene with protein productformer name = CASC5609173MCPH4, CASC5Abnormal cortical bone morphology; Agenesis of corpus callosum; Aggressive behavior; Autosomal recessive inheritance; Bimanual synkinesia; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Impulsivity; Intellectual disability; Intellectual disability, severe; Microcephaly; Pachygyria; Short stature; Sloping forehead; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
KRAS12p12.1100%gene with protein product190070KRAS2Abdominal pain; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal morphology of the nasolacrimal system; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of the eyelashes; Abnormality of the spleen; Abnormality of the ulna; Abnormality of the ureter; Abnormality of toe; Abnormality of vision; Absent eyebrow; Absent septum pellucidum; Acute myeloid leukemia; Adenoma sebaceum; Aganglionic megacolon; Agenesis of corpus callosum; Alopecia; Alveolar cell carcinoma; Anorexia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the skin; Arrhythmia; Asymmetric growth; Atrial septal defect; Atrial septal dilatation; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Basal cell carcinoma; Biparietal narrowing; Blepharophimosis; Bone cyst; Brachydactyly; Breast carcinoma; Brittle hair; Broad forehead; Capillary hemangiomas; Cavernous hemangioma; Cerebral calcification; Cerebral cortical atrophy; Chronic atrophic gastritis; Chronic fatigue; Coarctation of aorta; Coarse facial features; Coarse hair; Coloboma; Colon cancer; Constipation; Corneal opacity; Cranial asymmetry; Craniofacial hyperostosis; Cryptorchidism; Curly hair; Cystic hygroma; Death in early adulthood; Death in infancy; Deep palmar crease; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphasia; Dystrophic fingernails; Echolalia; EEG abnormality; Enlarged thorax; Epibulbar dermoid; Epicanthus; Excessive wrinkled skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Functional intestinal obstruction; Gastrointestinal hemorrhage; Generalized hyperpigmentation; Genu recurvatum; Glioblastoma multiforme; Global developmental delay; Growth delay; Hearing impairment; Hemangioma; Hemimegalencephaly; Hepatomegaly; Heterogeneous; High forehead; High palate; Horseshoe kidney; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypertonia; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplasia of the zygomatic bone; Ichthyosis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Iris coloboma; Irregular hyperpigmentation; Irritability; Jaundice; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Laryngeal hypoplasia; Lipodystrophy; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Macrocephaly; Macrotia; Malabsorption; Melanocytic nevus; Micrognathia; Microphthalmia; Midface retrusion; Migraine; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple lipomas; Muscle stiffness; Muscle weakness; Muscular hypotonia; Mutism; Myopia; Nausea and vomiting; Neoplasm of the pancreas; Neoplasm of the rectum; Neoplasm of the skeletal system; Nevus flammeus; Nevus sebaceous; Nystagmus; Osteolysis; Osteopenia; Overgrowth; Palmoplantar keratoderma; Pancreatic adenocarcinoma; Pectus carinatum; Pectus excavatum; Peripheral axonal neuropathy; Plagiocephaly; Polyhydramnios; Poor appetite; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Proptosis; Ptosis; Pulmonary arterial hypertension; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent fractures; Reduced tendon reflexes; Retinopathy; Rigidity; Sagittal craniosynostosis; Scoliosis; Seizures; Short neck; Short nose; Short palm; Short palpebral fissure; Short stature; Slow-growing hair; Somatic mosaicism; Somatic mutation; Sparse hair; Sparse or absent eyelashes; Spasticity; Sporadic; Stomach cancer; Strabismus; Subcortical cerebral atrophy; Subcutaneous nodule; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Tricuspid valve prolapse; Underdeveloped supraorbital ridges; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Visceral angiomatosis; Webbed neck; Weight loss; Wide intermamillary distance; XanthomatosisBone Marrow Failure Syndromes
KRAS12p12.1100%gene with protein product190070KRAS2Abdominal pain; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal morphology of the nasolacrimal system; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of cardiovascular system morphology; Abnormality of coagulation; Abnormality of dental color; Abnormality of dental morphology; Abnormality of finger; Abnormality of the eyelashes; Abnormality of the spleen; Abnormality of the ulna; Abnormality of the ureter; Abnormality of toe; Abnormality of vision; Absent eyebrow; Absent septum pellucidum; Acute myeloid leukemia; Adenoma sebaceum; Aganglionic megacolon; Agenesis of corpus callosum; Alopecia; Alveolar cell carcinoma; Anorexia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the skin; Arrhythmia; Asymmetric growth; Atrial septal defect; Atrial septal dilatation; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Back pain; Basal cell carcinoma; Biparietal narrowing; Blepharophimosis; Bone cyst; Brachydactyly; Breast carcinoma; Brittle hair; Broad forehead; Capillary hemangiomas; Cavernous hemangioma; Cerebral calcification; Cerebral cortical atrophy; Chronic atrophic gastritis; Chronic fatigue; Coarctation of aorta; Coarse facial features; Coarse hair; Coloboma; Colon cancer; Constipation; Corneal opacity; Cranial asymmetry; Craniofacial hyperostosis; Cryptorchidism; Curly hair; Cystic hygroma; Death in early adulthood; Death in infancy; Deep palmar crease; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphasia; Dystrophic fingernails; Echolalia; EEG abnormality; Enlarged thorax; Epibulbar dermoid; Epicanthus; Excessive wrinkled skin; Exocrine pancreatic insufficiency; Extrahepatic cholestasis; Facial asymmetry; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Functional intestinal obstruction; Gastrointestinal hemorrhage; Generalized hyperpigmentation; Genu recurvatum; Glioblastoma multiforme; Global developmental delay; Growth delay; Hearing impairment; Hemangioma; Hemimegalencephaly; Hepatomegaly; Heterogeneous; High forehead; High palate; Horseshoe kidney; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypertonia; Hypogonadotrophic hypogonadism; Hypophosphatemic rickets; Hypopigmentation of the skin; Hypoplasia of the zygomatic bone; Ichthyosis; Increased intracranial pressure; Increased level of L-fucose in urine; Intellectual disability; Intestinal pseudo-obstruction; Iris coloboma; Irregular hyperpigmentation; Irritability; Jaundice; Joint hyperflexibility; Juvenile myelomonocytic leukemia; Kyphoscoliosis; Laryngeal hypoplasia; Lipodystrophy; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphadenopathy; Macrocephaly; Macrotia; Malabsorption; Melanocytic nevus; Micrognathia; Microphthalmia; Midface retrusion; Migraine; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple lipomas; Muscle stiffness; Muscle weakness; Muscular hypotonia; Mutism; Myopia; Nausea and vomiting; Neoplasm of the pancreas; Neoplasm of the rectum; Neoplasm of the skeletal system; Nevus flammeus; Nevus sebaceous; Nystagmus; Osteolysis; Osteopenia; Overgrowth; Palmoplantar keratoderma; Pancreatic adenocarcinoma; Pectus carinatum; Pectus excavatum; Peripheral axonal neuropathy; Plagiocephaly; Polyhydramnios; Poor appetite; Porencephalic cyst; Posteriorly rotated ears; Premature birth; Prominent occiput; Proptosis; Ptosis; Pulmonary arterial hypertension; Pulmonary artery stenosis; Pulmonic stenosis; Recurrent fractures; Reduced tendon reflexes; Retinopathy; Rigidity; Sagittal craniosynostosis; Scoliosis; Seizures; Short neck; Short nose; Short palm; Short palpebral fissure; Short stature; Slow-growing hair; Somatic mosaicism; Somatic mutation; Sparse hair; Sparse or absent eyelashes; Spasticity; Sporadic; Stomach cancer; Strabismus; Subcortical cerebral atrophy; Subcutaneous nodule; Telecanthus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Transitional cell carcinoma of the bladder; Triangular face; Tricuspid valve prolapse; Underdeveloped supraorbital ridges; Ventricular septal defect; Ventriculomegaly; Vertebral segmentation defect; Visceral angiomatosis; Webbed neck; Weight loss; Wide intermamillary distance; XanthomatosisBone Marrow Failure Syndromes
L1CAMXq2899.99%gene with protein product308840HSAS1, SPG1, HSAS, MASA, MIC5, S10Abnormal facial shape; Absent septum pellucidum; Adducted thumb; Aganglionic megacolon; Agenesis of corpus callosum; Aphasia; Aqueductal stenosis; Camptodactyly of finger; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Corticospinal tract hypoplasia; Delayed speech and language development; Flexion contracture of thumb; Gait disturbance; Hand clenching; Hemiplegia/hemiparesis; Hydrocephalus; Hyperlordosis; Hyperreflexia; Increased intracranial pressure; Inferior vermis hypoplasia; Intellectual disability; Intellectual disability, severe; Kyphosis; Macrocephaly; Microcephaly; Muscle weakness; Partial agenesis of the corpus callosum; Pes cavus; Seizures; Short stature; Shuffling gait; Spastic paraplegia; Spasticity; Strabismus; Talipes equinovarus; Ventriculomegaly; X-linked recessive inheritance
L1CAMXq2899.99%gene with protein product308840HSAS1, SPG1, HSAS, MASA, MIC5, S10Abnormal facial shape; Absent septum pellucidum; Adducted thumb; Aganglionic megacolon; Agenesis of corpus callosum; Aphasia; Aqueductal stenosis; Camptodactyly of finger; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Corticospinal tract hypoplasia; Delayed speech and language development; Flexion contracture of thumb; Gait disturbance; Hand clenching; Hemiplegia/hemiparesis; Hydrocephalus; Hyperlordosis; Hyperreflexia; Increased intracranial pressure; Inferior vermis hypoplasia; Intellectual disability; Intellectual disability, severe; Kyphosis; Macrocephaly; Microcephaly; Muscle weakness; Partial agenesis of the corpus callosum; Pes cavus; Seizures; Short stature; Shuffling gait; Spastic paraplegia; Spasticity; Strabismus; Talipes equinovarus; Ventriculomegaly; X-linked recessive inheritance
LARGE122q12.3100%gene with protein productFormer name = LARGE603590LARGEAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of neuronal migration; Abnormality of the periventricular white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Babinski sign; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; EEG abnormality; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Horizontal nystagmus; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Joint contracture of the hand; Lissencephaly; Lower limb hyperreflexia; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Short stature; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg)
LARGE122q12.3100%gene with protein productFormer name = LARGE603590LARGEAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of neuronal migration; Abnormality of the periventricular white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Babinski sign; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; EEG abnormality; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Horizontal nystagmus; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Joint contracture of the hand; Lissencephaly; Lower limb hyperreflexia; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Short stature; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg)
MCPH18p23.1100%gene with protein product607117Abnormal cortical bone morphology; Agenesis of corpus callosum; Autosomal recessive inheritance; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Increased rate of premature chromosome condensation; Intellectual disability; Intellectual disability, severe; Microcephaly; Pachygyria; Seizures; Short stature; Sloping forehead; Small cerebral cortex; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
MED12Xq13.199.99%gene with protein product300188TNRC11, FGS1Abnormal heart morphology; Abnormality of the genitourinary system; Abnormality of the nasopharynx; Abnormality of the rib cage; Abnormality of the sternum; Abnormally folded helix; Agenesis of corpus callosum; Aggressive behavior; Anal atresia; Anal stenosis; Anteriorly placed anus; Aortic root aneurysm; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad hallux; Broad thumb; Bulbous nose; Cafe-au-lait spot; Camptodactyly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly; Coarse facial features; Constipation; Cryptorchidism; Decreased body weight; Deep philtrum; Delayed closure of the anterior fontanelle; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Downslanted palpebral fissures; Emotional lability; Epicanthus; Facial wrinkling; Feeding difficulties; Fine hair; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Heterotopia; High forehead; High palate; High pitched voice; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the maxilla; Hypospadias; Impaired social interactions; Inguinal hernia; Intellectual disability; Intestinal malrotation; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Joint laxity; Long face; Long nose; Long philtrum; Low frustration tolerance; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Macroorchidism; Micrognathia; Microtia, first degree; Motor delay; Multiple joint contractures; Muscular hypotonia; Narrow face; Narrow mouth; Narrow nasal bridge; Narrow palate; Nasal speech; Neonatal hypotonia; Neurological speech impairment; Obsessive-compulsive behavior; Open mouth; Partial agenesis of the corpus callosum; Pectus excavatum; Plagiocephaly; Postnatal macrocephaly; Prominent fingertip pads; Prominent forehead; Prominent nasal bridge; Prominent nose; Psychosis; Ptosis; Pyloric stenosis; Radial deviation of finger; Sacral dimple; Scoliosis; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Short neck; Short philtrum; Short stature; Single transverse palmar crease; Skin tags; Smooth philtrum; Sparse hair; Split hand; Strabismus; Syndactyly; Thick lower lip vermilion; Thin upper lip vermilion; Thin vermilion border; Umbilical hernia; Ventricular septal defect; Wide anterior fontanel; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
MFSD2A1p34.2100%gene with protein product614397MFSD2Abnormal cortical bone morphology; Absent speech; Agenesis of corpus callosum; Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital onset; Generalized hypotonia; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Inability to walk; Intellectual disability, severe; Microcephaly; Pachygyria; Progressive; Progressive microcephaly; Seizures; Short stature; Sloping forehead; Spastic gait; Spastic tetraparesis; Talipes equinovarus; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
MID1Xp22100%gene with protein product300552Abnormal heart morphology; Abnormality of the nasopharynx; Agenesis of corpus callosum; Anal atresia; Anteverted nares; Aspiration; Cleft palate; Cleft upper lip; Cryptorchidism; Dysphagia; Esophageal atresia; Frontal bossing; Gastroesophageal reflux; Global developmental delay; Heterogeneous; High palate; Hypertelorism; Hypospadias; Posterior pharyngeal cleft; Prominent forehead; Smooth philtrum; Telecanthus; Thin upper lip vermilion; Tracheoesophageal fistula; Wide nasal bridge; X-linked recessive inheritanceVACTERL Association
MKS117q22100%gene with protein product609883MKSAbnormal cardiac septum morphology; Abnormal chorioretinal morphology; Abnormal electroretinogram; Abnormality of the larynx; Abnormality of the ureter; Abnormality of the uterus; Accessory spleen; Adrenal hypoplasia; Agenesis of corpus callosum; Ambiguous genitalia, female; Ambiguous genitalia, male; Anal atresia; Anencephaly; Aplasia/Hypoplasia of the iris; Apnea; Arnold-Chiari malformation; Asplenia; Ataxia; Autosomal recessive inheritance; Bile duct proliferation; Biparietal narrowing; Bowing of the long bones; Breech presentation; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral hypoplasia; Cleft palate; Cleft upper lip; Clinodactyly; Coarctation of aorta; Congenital hepatic fibrosis; Cryptorchidism; Dandy-Walker malformation; Depressed nasal ridge; Elevated amniotic fluid alpha-fetoprotein; Encephalocele; Episodic tachypnea; External genital hypoplasia; Feeding difficulties; Feeding difficulties in infancy; Foot polydactyly; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the bladder; Hypoplasia of the ovary; Hypotelorism; Intellectual disability; Intestinal malrotation; Intrauterine growth retardation; Iris coloboma; Large placenta; Lobar holoprosencephaly; Lobulated tongue; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Muscular hypotonia; Natal tooth; Nystagmus; Obesity; Occipital encephalocele; Oculomotor apraxia; Olfactory lobe agenesis; Oligohydramnios; Omphalocele; Optic atrophy; Patent ductus arteriosus; Pigmentary retinopathy; Polycystic kidney dysplasia; Polydactyly; Postaxial foot polydactyly; Postaxial hand polydactyly; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Retinal dystrophy; Rod-cone dystrophy; Sclerocornea; Short neck; Short stature; Single umbilical artery; Sloping forehead; Splenomegaly; Syndactyly; Talipes; Webbed neck; Wide mouthBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity
MRPS1610q22.2100%gene with protein product609204Abnormal facial shape; Agenesis of corpus callosum; Autosomal recessive inheritance; Brachydactyly; Congenital onset; Edema; Elevated hepatic transaminases; Feeding difficulties in infancy; Heterogeneous; Hypokinesia; Increased serum lactate; Lactic acidosis; Lethargy; Low-set ears; Neonatal hypotonia; Patent ductus arteriosus; Redundant neck skin; Small for gestational age; Ventriculomegaly
NARS211q14.198.51%gene with protein product612803DFNB94Agenesis of corpus callosum; Autosomal recessive inheritance; Cortical visual impairment; Elevated serum creatine phosphokinase; Facial palsy; Feeding difficulties; Focal segmental glomerulosclerosis; Generalized hypotonia; Gliosis; Increased serum lactate; Microcephaly; Muscular hypotonia; Myopathy; Neurodegeneration; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Phenotypic variability; Proximal muscle weakness; Ptosis; Skeletal muscle atrophy; Spasticity
NDE116p13.11100%gene with protein product609449Agenesis of corpus callosum; Athetosis; Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital onset; Cortical gyral simplification; Generalized myoclonic seizures; Global developmental delay; Hydranencephaly; Hyperreflexia; Hypoplasia of the brainstem; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Lissencephaly; Macrotia; Microcephaly; Multiple joint contractures; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Proptosis; Seizures; Self-mutilation; Short stature; Skeletal muscle atrophy; Sloping forehead; Spastic tetraplegia; Talipes equinovarus; Ventriculomegaly
NDE116p13.11100%gene with protein product609449Agenesis of corpus callosum; Athetosis; Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital onset; Cortical gyral simplification; Generalized myoclonic seizures; Global developmental delay; Hydranencephaly; Hyperreflexia; Hypoplasia of the brainstem; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Lissencephaly; Macrotia; Microcephaly; Multiple joint contractures; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Proptosis; Seizures; Self-mutilation; Short stature; Skeletal muscle atrophy; Sloping forehead; Spastic tetraplegia; Talipes equinovarus; Ventriculomegaly
NDUFB11Xp11.399.85%gene with protein product300403Abnormal cardiac septum morphology; Abnormal facial shape; Abnormal morphology of the nasolacrimal system; Abnormality of retinal pigmentation; Abnormality of the eyelashes; Agenesis of corpus callosum; Anophthalmia; Arrhythmia; Cardiac arrest; Congenital diaphragmatic hernia; Dermal atrophy; Dilated cardiomyopathy; Dilation of lateral ventricles; Erythema; Failure to thrive; Hyperpigmentation of the skin; Hypertrophic cardiomyopathy; Hypopigmented skin patches; Lacrimal duct atresia; Mandibular aplasia; Micrognathia; Microphthalmia; Midface retrusion; Muscular hypotonia of the trunk; Myopia; Nystagmus; Retrognathia; Sclerocornea; Seizures; Severe short stature; Strabismus; Ventricular fibrillation; Ventricular tachycardia; Vitritis; Wide nasal bridge; Wide nose; X-linked dominant inheritance
NFIA1p31.3100%gene with protein product600727Agenesis of corpus callosum; Anteverted nares; Arnold-Chiari type I malformation; Broad face; Broad forehead; Cognitive impairment; Cutis marmorata; Generalized hypotonia; Global developmental delay; Hydronephrosis; Hypoplasia of the corpus callosum; Inguinal hernia; Intellectual disability; Low-set ears; Macrocephaly; Narrow mouth; Phenotypic variability; Renal hypoplasia; Seizures; Short chin; Short nose; Sporadic; Syringomyelia; Thin upper lip vermilion; Ventriculomegaly; Vesicoureteral reflux
NFIX19p13.1393.01%gene with protein product164005Accelerated skeletal maturation; Advanced eruption of teeth; Agenesis of corpus callosum; Anteverted nares; Anxiety; Astigmatism; Atlantoaxial dislocation; Atrial septal defect; Autosomal dominant inheritance; Blue sclerae; Bowing of the long bones; Bruising susceptibility; Bullet-shaped middle phalanges of the hand; Cerebral atrophy; Choanal atresia; Choanal stenosis; Conductive hearing impairment; Coxa valga; Cutis marmorata; Death in childhood; Decreased body weight; Delayed speech and language development; Depressed nasal bridge; Distal widening of metacarpals; Downslanted palpebral fissures; Eclabion; Everted lower lip vermilion; Failure to thrive; Frontal bossing; Generalized hirsutism; Generalized hypotonia; Gingival overgrowth; Glossoptosis; Hearing impairment; High forehead; Hypermetropia; Hypertelorism; Hypoplasia of the odontoid process; Increased susceptibility to fractures; Intellectual disability; Irregular dentition; Joint hyperflexibility; Large sternal ossification centers; Laryngomalacia; Long face; Long fingers; Low-set ears; Macrocephaly; Macrogyria; Malar flattening; Mandibular prognathia; Midface retrusion; Motor delay; Narrow face; Narrow mouth; Nystagmus; Obstructive sleep apnea; Omphalocele; Open mouth; Overfolded helix; Overgrowth; Patent ductus arteriosus; Pectus excavatum; Prominence of the premaxilla; Prominent forehead; Proptosis; Protruding tongue; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Reduced bone mineral density; Retrognathia; Scoliosis; Shallow orbits; Short distal phalanx of finger; Short mandibular rami; Short nose; Short philtrum; Short sternum; Slender long bone; Sporadic; Strabismus; Synophrys; Tall stature; Thick eyebrow; Thin skin; Umbilical hernia; Ventriculomegaly
OFD1Xp22.299.66%gene with protein product300170CXorf5, RP23Abnormal cortical gyration; Abnormal electroretinogram; Abnormal heart morphology; Abnormality of color vision; Abnormality of retinal pigmentation; Abnormality of the cerebellum; Abnormality of the retinal vasculature; Abnormality of the rib cage; Abnormality of the testis; Abnormality of toe; Accessory oral frenulum; Agenesis of corpus callosum; Agenesis of permanent teeth; Alopecia; Alveolar ridge overgrowth; Anteverted nares; Arachnoid cyst; Ataxia; Atypical scarring of skin; Bifid tongue; Blindness; Brachydactyly; Broad alveolar ridges; Broad palm; Carious teeth; Cataract; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly; Clinodactyly of the 5th finger; Coarse facial features; Conductive hearing impairment; Cone-shaped epiphysis; Congenital hip dislocation; Congenital onset; Deep philtrum; Downslanted palpebral fissures; Enlarged cisterna magna; Epicanthus; Facial asymmetry; Facial capillary hemangioma; Feeding difficulties in infancy; Finger syndactyly; Foot polydactyly; Frontal bossing; Generalized hypotonia; Glaucoma; Global developmental delay; Gray matter heterotopias; Growth delay; Hamartoma of tongue; Hearing impairment; Hepatic cysts; Hepatic fibrosis; High palate; Hirsutism; Hydrocephalus; Hyperactive deep tendon reflexes; Hyperinsulinemia; Hypertelorism; Hypertension; Hypodontia; Hypogonadism; Hypoplasia of dental enamel; Hypoplasia of penis; Hypothalamic hamartoma; Increased number of teeth; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Keratoconus; Lobulated tongue; Low-set ears; Macrocephaly; Median cleft lip; Microcephaly; Micropenis; Microretrognathia; Milia; Molar tooth sign on MRI; Multicystic kidney dysplasia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Ovarian cyst; Photophobia; Pneumonia; Polycystic kidney dysplasia; Polydactyly; Porencephalic cyst; Postaxial polydactyly; Posteriorly rotated ears; Progressive night blindness; Proteinuria; Radial deviation of finger; Recurrent infections; Recurrent respiratory infections; Recurrent upper respiratory tract infections; Reduced bone mineral density; Rod-cone dystrophy; Scaphocephaly; Seizures; Sensorineural hearing impairment; Short finger; Short neck; Short nose; Short stature; Short toe; Single transverse palmar crease; Small nail; Sparse hair; Syndactyly; Talipes equinovarus; Tapered finger; Telecanthus; Thick vermilion border; Thickened nuchal skin fold; Thin upper lip vermilion; Tongue nodules; U-Shaped upper lip vermilion; Underdeveloped nasal alae; Wide intermamillary distance; Wide mouth; Wide nasal bridge; Wide nose; X-linked dominant inheritance; X-linked recessive inheritanceHeterotaxy ; Obesity
OTX214q22.3100%gene with protein product600037Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the cranial nerves; Absent nares; Agenesis of corpus callosum; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the breasts; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Cataract; Cleft palate; Coloboma; Cryptorchidism; Cyclopia; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Ectopic posterior pituitary; Fatigue; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Holoprosencephaly; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Infertility; Joint laxity; Low-set, posteriorly rotated ears; Mandibular aplasia; Microcornea; Microglossia; Microphthalmia; Narrow internal auditory canal; Narrow mouth; Nystagmus; Osteopenia; Pituitary hypothyroidism; Polyhydramnios; Respiratory distress; Retinal dystrophy; Seizures; Septo-optic dysplasia; Short stature; Situs inversus totalis; Strabismus; Synotia; Visual impairmentHeterotaxy
OTX214q22.3100%gene with protein product600037Abnormal prolactin level; Abnormality of secondary sexual hair; Abnormality of the cranial nerves; Absent nares; Agenesis of corpus callosum; Amenorrhea; Anterior pituitary agenesis; Anterior pituitary hypoplasia; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the breasts; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the eyebrow; Autosomal dominant inheritance; Cataract; Cleft palate; Coloboma; Cryptorchidism; Cyclopia; Decreased circulating ACTH level; Decreased testicular size; Depressed nasal ridge; Ectopic posterior pituitary; Fatigue; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; Holoprosencephaly; Hypoglycemia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypotension; Infertility; Joint laxity; Low-set, posteriorly rotated ears; Mandibular aplasia; Microcornea; Microglossia; Microphthalmia; Narrow internal auditory canal; Narrow mouth; Nystagmus; Osteopenia; Pituitary hypothyroidism; Polyhydramnios; Respiratory distress; Retinal dystrophy; Seizures; Septo-optic dysplasia; Short stature; Situs inversus totalis; Strabismus; Synotia; Visual impairmentHeterotaxy
PDHA1Xp22.1299.65%gene with protein product300502PDHAAbnormality of eye movement; Agenesis of corpus callosum; Anteverted nares; Apneic episodes precipitated by illness, fatigue, stress; Basal ganglia cysts; Cerebral atrophy; Choreoathetosis; Chronic lactic acidosis; Decreased activity of the pyruvate dehydrogenase complex; Dystonia; Episodic ataxia; Flared nostrils; Frontal bossing; Generalized hypotonia; Global developmental delay; Hyperalaninemia; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Lethargy; Long philtrum; Microcephaly; Phenotypic variability; Ptosis; Seizures; Severe lactic acidosis; Small for gestational age; Ventriculomegaly; Wide nasal bridge; X-linked dominant inheritance
PHC112p13.3193.42%gene with protein product602978EDR1Abnormal cortical bone morphology; Agenesis of corpus callosum; Autosomal recessive inheritance; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability, severe; Microcephaly; Pachygyria; Short stature; Sloping forehead; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
PHGDH1p12100%gene with protein product606879Ablepharon; Abnormality of the philtrum; Absent eyelashes; Absent septum pellucidum; Adducted thumb; Agenesis of corpus callosum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Bifid uterus; Broad foot; Calcaneovalgus deformity; Camptodactyly; Cataract; Cerebellar hypoplasia; Cerebral dysmyelination; Choroid plexus cyst; Cleft palate; Cleft upper lip; Clinodactyly; Congenital cataract; Congenital microcephaly; Cryptorchidism; Dandy-Walker malformation; Decreased fetal movement; Decreased testicular size; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Finger syndactyly; Generalized edema; Growth delay; Hydranencephaly; Hypertelorism; Hypogonadism; Hypsarrhythmia; Ichthyosis; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Lack of skin elasticity; Large hands; Lissencephaly; Macrogyria; Macrotia; Megaloblastic anemia; Microcephaly; Micrognathia; Micromelia; Microphthalmia; Muscle cramps; Muscular dystrophy; Nystagmus; Opisthotonus; Pachygyria; Patent ductus arteriosus; Patent foramen ovale; Polyhydramnios; Polymicrogyria; Proptosis; Pterygium; Pulmonary hypoplasia; Radial deviation of finger; Renal agenesis; Rocker bottom foot; Seizures; Short neck; Short umbilical cord; Skeletal muscle atrophy; Sloping forehead; Small placenta; Spastic tetraplegia; Spina bifida; Stillbirth; Thick lower lip vermilion; Thick vermilion border; Thrombocytopenia; Toe syndactyly; Transposition of the great arteries; Trismus; Ventricular septal defect; Yellow subcutaneous tissue covered by thin, scaly skinPalmoplantar keratoderma plus congenital ichthyosis
PIEZO218p11.22-p1199.81%gene with protein product613629FAM38B2, C18orf30, C18orf58, FAM38BAbnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the rib cage; Abnormality of the sternum; Absent palmar crease; Absent phalangeal crease; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia involving the skeletal musculature; Arachnodactyly; Areflexia; Arthrogryposis multiplex congenita; Astigmatism; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral talipes equinovarus; Blepharophimosis; Broad-based gait; Camptodactyly; Camptodactyly of finger; Camptodactyly of toe; Cerebellar hypoplasia; Cleft palate; Clinodactyly; Congenital contracture; Congenital finger flexion contractures; Congenital hip dislocation; Cryptorchidism; Cutaneous finger syndactyly; Dandy-Walker malformation; Decreased facial expression; Decreased hip abduction; Decreased muscle mass; Decreased palmar creases; Deeply set eye; Deviation of finger; Dextrocardia; Dimple chin; Distal arthrogryposis; Down-sloping shoulders; Duane anomaly; Dysarthria; Epicanthus; Facial asymmetry; Failure to thrive; Feeding difficulties; Firm muscles; Fixed facial expression; Generalized hypotonia; Global developmental delay; High palate; High, narrow palate; Hip dysplasia; Hypertelorism; Hypoplasia of the brainstem; Hypospadias; Inability to walk; Inferior vermis hypoplasia; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint contracture of the hand; Joint stiffness; Keratoconus; Keratoglobus; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Limited wrist extension; Long nose; Long philtrum; Low-set ears; Lumbar hyperlordosis; Macrotia; Mask-like facies; Microcephaly; Micrognathia; Micropenis; Microphthalmia; Motor delay; Muscular dystrophy; Muscular hypotonia; Myopathic facies; Narrow mouth; Ophthalmoplegia; Optic atrophy; Overlapping toe; Pectus carinatum; Pectus excavatum; Pes planus; Poor head control; Posteriorly rotated ears; Postnatal growth retardation; Primitive reflex; Progressive; Protruding ear; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Radioulnar synostosis; Renal hypoplasia; Respiratory insufficiency; Restrictive ventilatory defect; Retrognathia; Scoliosis; Seizures; Sensory ataxia; Sensory axonal neuropathy; Severe short stature; Short neck; Short palpebral fissure; Short phalanx of finger; Short stature; Single transverse palmar crease; Skeletal muscle atrophy; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes; Talipes equinovarus; Thin upper lip vermilion; Thoracolumbar scoliosis; Triangular face; Ulnar deviation of the hand or of fingers of the hand; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Zollinger-Ellison syndrome
PIGN18q21.3398.85%gene with protein product606097Abnormal cardiac septum morphology; Absent speech; Agenesis of corpus callosum; Amblyopia; Anal atresia; Anal stenosis; Anteverted nares; Aplasia/Hypoplasia of the nipples; Atrial septal defect; Autosomal recessive inheritance; Broad forehead; Cerebral atrophy; Cerebral cortical atrophy; Choreoathetosis; Cleft palate; Clinodactyly of the 5th finger; Coarse facial features; Congenital diaphragmatic hernia; Congenital onset; Corneal opacity; Cryptorchidism; Cupped ear; Depressed nasal bridge; Epicanthus; Frontal bossing; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High palate; Hydrocele testis; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplastic fingernail; Hyporeflexia; Intellectual disability; Large fleshy ears; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Median cleft lip; Micrognathia; Multicystic kidney dysplasia; Narrow forehead; Non-midline cleft lip; Nystagmus; Open mouth; Overfolded helix; Patent ductus arteriosus; Polyhydramnios; Posteriorly rotated ears; Pulmonary hypoplasia; Seizures; Severe global developmental delay; Short distal phalanx of finger; Short neck; Short nose; Spasticity; Tented upper lip vermilion; Tetralogy of Fallot; Thickened nuchal skin fold; Thin vermilion border; Tremor; Variable expressivity; Wide intermamillary distance; Wide mouth; Wide nasal bridge
POMGNT11p34.198.2%gene with protein product606822MEBAbnormal aldolase level; Abnormal electroretinogram; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Anteverted nares; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Conductive hearing impairment; Congenital muscular dystrophy; Congenital myopia; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; Difficulty climbing stairs; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged flash visual evoked potentials; Everted lower lip vermilion; Fatigue; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperinsulinemia; Hyperlordosis; Hypertonia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the pons; Hypoplasia of the retina; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Keratoconus; Lissencephaly; Macrocephaly; Macrogyria; Malar flattening; Megalocornea; Metatarsus valgus; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myoclonus; Myopathy; Myopia; Neurological speech impairment; Nyctalopia; Nystagmus; Obesity; Opacification of the corneal stroma; Ophthalmoplegia; Optic atrophy; Pachygyria; Pallor; Phenotypic variability; Photophobia; Polymicrogyria; Progressive; Progressive night blindness; Reduced visual acuity; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nasal bridge; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spasticity; Specific learning disability; Strabismus; Type II lissencephaly; Uncontrolled eye movements; Undetectable electroretinogram; Ventriculomegaly; Visual impairment; Wide nasal bridgeMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMGNT23p22.1100%gene with protein product614828C3orf39, GTDC2Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Generalized hypotonia; Glaucoma; Global developmental delay; Hydrocephalus; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Optic atrophy; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Skeletal muscle atrophy; Specific learning disability; Type II lissencephaly; VentriculomegalyMuscular dystropy-dystroglycanopathy (Walker-Warburg)
POMK8p11.21100%gene with protein product615247Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormally large globe; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Cataract; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Elevated serum creatine phosphokinase; Feeding difficulties; Flexion contracture; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hyporeflexia; Infantile onset; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microcephaly; Microphthalmia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Neonatal hypotonia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Poor speech; Progressive microcephaly; Reduced visual acuity; Respiratory insufficiency due to muscle weakness; Retinal degeneration; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Skeletal muscle atrophy; Specific learning disability; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg)
POMT19q34.1399.8%gene with protein product607423Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Difficulty walking; Easy fatigability; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged cisterna magna; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Inability to walk; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slow progression; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT19q34.1399.8%gene with protein product607423Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Difficulty walking; Easy fatigability; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged cisterna magna; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Inability to walk; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slow progression; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT214q24.398.02%gene with protein product607439Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Cerebral cortical atrophy; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hip dislocation; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Micropenis; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Open mouth; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT214q24.398.02%gene with protein product607439Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Cerebral cortical atrophy; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hip dislocation; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Micropenis; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Open mouth; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
PORCNXp11.2399.99%gene with protein product300651DHOFAbnormal palmar dermatoglyphics; Abnormality of dental enamel; Abnormality of dental morphology; Abnormality of epiphysis morphology; Abnormality of skin pigmentation; Abnormality of the larynx; Abnormality of the middle ear; Abnormality of the nail; Abnormality of the pinna; Absent fingernail; Absent toenail; Agenesis of corpus callosum; Alopecia; Aniridia; Anophthalmia; Anteriorly placed anus; Arnold-Chiari malformation; Bifid ureter; Brachydactyly; Brittle hair; Broad nasal tip; Camptodactyly of finger; Chorioretinal coloboma; Cleft ala nasi; Cleft palate; Cleft upper lip; Clitoral hypoplasia; Cognitive impairment; Congenital diaphragmatic hernia; Congenital hip dislocation; Corneal opacity; Cryptorchidism; Delayed eruption of teeth; Dental malocclusion; Dermal atrophy; Diastasis recti; Ectopia lentis; Erythema; Facial asymmetry; Finger syndactyly; Foot oligodactyly; Foot polydactyly; Hand oligodactyly; Hand polydactyly; Hearing impairment; Hiatus hernia; Horseshoe kidney; Hydrocephalus; Hydronephrosis; Hypodontia; Hypoplasia of dental enamel; Hypoplasia of the iris; Hypoplastic nipples; Hypoplastic pelvis; Inguinal hernia; Intellectual disability; Intestinal malrotation; Iris coloboma; Joint laxity; Labial hypoplasia; Linear hyperpigmentation; Low-set ears; Lower limb asymmetry; Macule; Microcephaly; Microphthalmia; Midclavicular aplasia; Midclavicular hypoplasia; Mixed hearing impairment; Multicystic kidney dysplasia; Myelomeningocele; Nail dysplasia;