XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

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Phenotypes
Cerebellar hypoplasia

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
ACD16q22.1100%gene with protein product609377Abnormality of coagulation; Abnormality of the hair; Abnormality of the lymphatic system; Anemia; Aplastic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Cerebellar hypoplasia; Cerebral cortical atrophy; Dermal atrophy; Dry skin; Esophageal stenosis; Excessive wrinkled skin; Failure to thrive; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hypertonia; Immunodeficiency; Intellectual disability; Intrauterine growth retardation; Melanoma; Microcephaly; Nail dystrophy; Nevus; Oral leukoplakia; Premature graying of hair; Short stature; Sparse scalp hair; Thrombocytopenia; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
ACD16q22.1100%gene with protein product609377Abnormality of coagulation; Abnormality of the hair; Abnormality of the lymphatic system; Anemia; Aplastic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Cerebellar hypoplasia; Cerebral cortical atrophy; Dermal atrophy; Dry skin; Esophageal stenosis; Excessive wrinkled skin; Failure to thrive; Freckling; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hypertonia; Immunodeficiency; Intellectual disability; Intrauterine growth retardation; Melanoma; Microcephaly; Nail dystrophy; Nevus; Oral leukoplakia; Premature graying of hair; Short stature; Sparse scalp hair; Thrombocytopenia; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
ADGRG116q2199.98%gene with protein product604110GPR56Ankle clonus; Autosomal recessive inheritance; Babinski sign; Broad-based gait; Cerebellar hypoplasia; Cerebral dysmyelination; Esotropia; Exotropia; Frontoparietal polymicrogyria; Global developmental delay; Hyperreflexia; Hypertonia; Hypoplasia of the brainstem; Intellectual disability; Language impairment; Nystagmus; Perisylvian polymicrogyria; Polymicrogyria, anterior to posterior gradient; Seizures; Truncal ataxia
ASNS7q21.3100%gene with protein product108370Autosomal recessive inheritance; Cerebellar hypoplasia; Cortical dysplasia; Cortical gyral simplification; Cortical visual impairment; Delayed myelination; Encephalopathy; Exaggerated startle response; Failure to thrive; Feeding difficulties; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypsarrhythmia; Large hands; Long foot; Macrotia; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Profound global developmental delay; Progressive; Progressive microcephaly; Respiratory insufficiency; Seizures; Sloping forehead; Spastic tetraplegia; Ventriculomegaly
ATP5F1A18q21.1100%gene with protein productFormer name = ATP5A1164360ATP5AL2, ATPM, ATP5A1Apnea; Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital onset; Congestive heart failure; Encephalopathy; Failure to thrive; Generalized hypotonia; High-pitched cry; Hyperalaninemia; Intrauterine growth retardation; Irritability; Microcephaly; Nystagmus; Pulmonary arterial hypertension; Pulmonary hypoplasia; Seizures
ATP6V0A212q24.31100%gene with protein product611716Abnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Abnormality of the cheek; Anteverted nares; Atrial septal dilatation; Autosomal recessive inheritance; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Coxa vara; Cryptorchidism; Cutis laxa; Dandy-Walker malformation; Decreased muscle mass; Deep palmar crease; Deep plantar creases; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dementia; Downslanted palpebral fissures; Epicanthus; Excessive skin wrinkling on dorsum of hands and fingers; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Fragile nails; Fragmented elastic fibers in the dermis; Frontal bossing; Generalized hypotonia; Generalized joint laxity; Global developmental delay; High myopia; High nonceruloplasmin-bound serum copper; High palate; Hypertelorism; Hypoplasia of the musculature; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Joint hypermobility; Kyphoscoliosis; Kyphosis; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Microdontia; Midface retrusion; Motor delay; Multiple palmar creases; Multiple plantar creases; Muscular hypotonia; Myopia; Narrow mouth; Nasal speech; Neonatal wrinkled skin of hands and feet; Osteopenia; Pachygyria; Palmoplantar cutis laxa; Pectus excavatum; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Premature rupture of membranes; Progressive cerebellar ataxia; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Recurrent sinopulmonary infections; Redundant neck skin; Redundant skin; Scapular winging; Scoliosis; Seizures; Short nail; Short nose; Short stature; Slender long bone; Slender long bones with narrow diaphyses; Slurred speech; Small, conical teeth; Smooth philtrum; Sparse hair; Spasticity; Status epilepticus; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Umbilical hernia; Wide anterior fontanel; Wide nasal bridge; Wormian bones
ATP6V1A3q13.3199.95%gene with protein product607027VPP2, ATP6A1, ATP6V1A1Abnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Dandy-Walker malformation; Decreased muscle mass; Delayed closure of the anterior fontanelle; Delayed speech and language development; Dementia; Downslanted palpebral fissures; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Fragmented elastic fibers in the dermis; Generalized joint laxity; Global developmental delay; High myopia; High palate; Hypertelorism; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability, profound; Intrauterine growth retardation; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Motor delay; Pachygyria; Polymicrogyria; Poor speech; Postnatal growth retardation; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Redundant neck skin; Seizures; Short nose; Short stature; Smooth philtrum; Sparse hair; Spasticity; Strabismus; Subretinal pigment epithelium hemorrhage; Thick cerebral cortex; Thick hair
ATP6V1E122q11.21100%gene with protein product108746ATP6E, ATP6V1EAbnormal apolipoprotein level; Abnormal isoelectric focusing of serum transferrin; Abnormal subcutaneous fat tissue distribution; Aortic regurgitation; Atrial septal defect; Autosomal recessive inheritance; Bilateral cryptorchidism; Broad columella; Broad nasal tip; Carious teeth; Cerebellar hypoplasia; Coarse hair; Congenital hip dislocation; Dandy-Walker malformation; Decreased body weight; Decreased muscle mass; Delayed closure of the anterior fontanelle; Delayed speech and language development; Dementia; Dental crowding; Disproportionate tall stature; Downslanted palpebral fissures; Entropion; Excessive wrinkled skin; Failure to thrive; Feeding difficulties; Fragmented elastic fibers in the dermis; Generalized hypotonia; Generalized joint laxity; Global developmental delay; Hand clenching; High myopia; High palate; Hip dysplasia; Hypertelorism; Infantile muscular hypotonia; Inguinal hernia; Intellectual disability, profound; Intrauterine growth retardation; Joint laxity; Knee flexion contracture; Kyphoscoliosis; Laryngomalacia; Lipodystrophy; Lissencephaly; Long philtrum; Low-set ears; Malar flattening; Mitral valve prolapse; Motor delay; Narrow naris; Nystagmus; Pachygyria; Pes planus; Polymicrogyria; Poor speech; Postnatal growth retardation; Progressive microcephaly; Prominent nasolabial fold; Prominent veins on trunk; Psychomotor deterioration; Reduced subcutaneous adipose tissue; Redundant neck skin; Seizures; Short nose; Short stature; Smooth philtrum; Sparse hair; Spasticity; Strabismus; Subretinal pigment epithelium hemorrhage; Talipes equinovarus; Thick cerebral cortex; Thick hair; Tricuspid regurgitation
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
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
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
BRF114q32.33100%gene with protein product604902TAF3B2, TAF3C, GTF3BAutosomal recessive inheritance; Cerebellar hypoplasia; Dental malocclusion; Fine hair; Global developmental delay; Infantile onset; Intellectual disability; Low-set ears; Macrodontia of permanent maxillary central incisor; Microcephaly; Scoliosis; Short neck; Short stature; Slender long bone; Sparse and thin eyebrow; Sparse hair; Tapered finger; Taurodontia
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
CAMTA11p36.31-p36.100%gene with protein product611501Abnormal cortical gyration; Abnormal social behavior; Aggressive behavior; Anteverted nares; Autistic behavior; Autosomal dominant inheritance; Bulbous nose; Cerebellar hypoplasia; Cerebral cortical atrophy; Constipation; Deeply set eye; Delayed speech and language development; Dysarthria; Dysmetria; Global developmental delay; Intellectual disability, mild; Long face; Long philtrum; Memory impairment; Neonatal hypotonia; Nonprogressive cerebellar ataxia; Pointed chin; Segmental myoclonic seizures; Strabismus; Thick lower lip vermilion; Unsteady gait; Wide nose
CASKXp11.499.74%gene with protein product300172TNRC8Abnormally large globe; Absent speech; Broad forehead; Broad nasal tip; Cataract; Cerebellar hypoplasia; Cerebral cortical atrophy; Decreased body weight; Dilated fourth ventricle; Epicanthus; Gait disturbance; Generalized hypotonia; Global developmental delay; High palate; Hyperreflexia; Hypertelorism; Hypohidrosis; Intellectual disability; Intellectual disability, moderate; Long philtrum; Macrotia; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia of the trunk; Myopia; Nystagmus; Oval face; Postnatal growth retardation; Progressive microcephaly; Prominent nasal bridge; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short nose; Short stature; Spasticity; Strabismus; Visual impairment; Wide nasal bridge; X-linked dominant inheritance; X-linked inheritance
CASKXp11.499.74%gene with protein product300172TNRC8Abnormally large globe; Absent speech; Broad forehead; Broad nasal tip; Cataract; Cerebellar hypoplasia; Cerebral cortical atrophy; Decreased body weight; Dilated fourth ventricle; Epicanthus; Gait disturbance; Generalized hypotonia; Global developmental delay; High palate; Hyperreflexia; Hypertelorism; Hypohidrosis; Intellectual disability; Intellectual disability, moderate; Long philtrum; Macrotia; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia of the trunk; Myopia; Nystagmus; Oval face; Postnatal growth retardation; Progressive microcephaly; Prominent nasal bridge; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short nose; Short stature; Spasticity; Strabismus; Visual impairment; Wide nasal bridge; X-linked dominant inheritance; X-linked inheritance
CCDC22Xp11.2399.94%gene with protein product300859CXorf37Abnormal mitral valve morphology; Abnormal tricuspid valve morphology; Abnormality of the fontanelles or cranial sutures; Aortic valve stenosis; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Broad forehead; Broad hallux; Broad neck; Camptodactyly; Cerebellar hypoplasia; Cleft palate; Clinodactyly; Cryptorchidism; Dandy-Walker malformation; Death in infancy; Depressed nasal bridge; Downslanted palpebral fissures; Frontal bossing; Generalized hypotonia; Global developmental delay; High, narrow palate; Hydrocephalus; Hypertelorism; Hypoplastic left heart; Intellectual disability; Kyphosis; Low posterior hairline; Low-set ears; Macrocephaly; Muscular hypotonia; Neurological speech impairment; Overlapping toe; Patent ductus arteriosus; Poor speech; Prominent occiput; Protruding tongue; Pulmonic stenosis; Recurrent respiratory infections; Scoliosis; Short distal phalanx of finger; Short nose; Short philtrum; Short stature; Syndactyly; Tetralogy of Fallot; Upslanted palpebral fissure; Ventricular septal defect; Wide nasal bridge; X-linked recessive inheritance
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
CENPE4q2499.77%gene with protein product117143Abnormality of dental enamel; Absent earlobe; Autosomal recessive inheritance; Cachexia; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Convex nasal ridge; Cortical gyral simplification; Craniosynostosis; Delayed skeletal maturation; Downslanted palpebral fissures; Glaucoma; Hip dysplasia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Metaphyseal sclerosis; Microcephaly; Micrognathia; Mild global developmental delay; Narrow face; Partial agenesis of the corpus callosum; Prematurely aged appearance; Prominent nose; Reduced number of teeth; Round face; Sandal gap; Seizures; Short foot; Short stature; Sloping forehead; Small hand; Sparse scalp hair
CEP1041p36.32100%gene with protein product616690KIAA0562Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Episodic tachypnea; Feeding difficulties in infancy; Gait disturbance; Global developmental delay; Infantile onset; Intellectual disability; Long face; Muscular hypotonia; Nystagmus; Oculomotor apraxia
CHMP1A16q24.3100%gene with protein product164010PRSM1, PCOLN3Absent speech; Astigmatism; Autosomal recessive inheritance; Cerebellar hypoplasia; Chorea; Congenital onset; Esotropia; Generalized hypotonia; Global developmental delay; Hypermetropia; Hyperreflexia; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability; Muscular hypotonia of the trunk; Myopia; Pes cavus; Poor speech; Postnatal microcephaly; Spasticity; Talipes equinovarus; Talipes valgus
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)
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
DKC1Xq2899.99%gene with protein product300126DKCAbnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Acute myeloid leukemia; Alopecia; Anal mucosal leukoplakia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Blepharitis; Bone marrow hypocellularity; Carious teeth; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Cirrhosis; Conjunctivitis; Cryptorchidism; Decreased testicular size; Dermal atrophy; Epiphora; Esophageal stenosis; Esophageal stricture; Excessive wrinkled skin; Failure to thrive; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hodgkin lymphoma; Horseshoe kidney; Hyperhidrosis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypertonia; Hypodontia; Hypopigmented skin patches; Hypospadias; Immunodeficiency; Intellectual disability; Intrauterine growth retardation; Leukopenia; Malabsorption; Microcephaly; Myelodysplasia; Nail dystrophy; Optic atrophy; Oral leukoplakia; Osteoporosis; Pancytopenia; Periodontitis; Phimosis; Premature graying of hair; Premature loss of teeth; Pterygium of nails; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Restrictive ventilatory defect; Reticulated skin pigmentation; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse eyelashes; Sparse hair; Sparse scalp hair; Split nail; Squamous cell carcinoma; Strabismus; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Ventriculomegaly; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes ; Ectodermal Dysplasia ; Inflammatory Bowel Disease
DOK74p16.399.82%gene with protein product610285C4orf25Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Abnormality of the immune system; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Bulbar palsy; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Depressed nasal tip; Distal amyotrophy; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Facial palsy; Fatigable weakness; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Intrauterine growth retardation; Juvenile onset; Long philtrum; Micrognathia; Mildly elevated creatine phosphokinase; Multiple joint contractures; Muscle cramps; Narrow mouth; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Proximal amyotrophy; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand; Waddling gait
DPM29q34.11100%gene with protein product603564Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital contracture; Congenital onset; Death in infancy; Elevated serum creatine phosphokinase; Feeding difficulties; Global developmental delay; High palate; Hypotelorism; Micrognathia; Myopathic facies; Optic atrophy; Postnatal microcephaly; Primitive reflex; Scoliosis; Seizures; Severe muscular hypotonia; Short nose; Strabismus; Thin upper lip vermilionRhabdomyolysis
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
ERCC119q13.32100%gene with protein product126380Abnormal nasal morphology; Abnormality of immune system physiology; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bilateral microphthalmos; Blepharophimosis; Camptodactyly of finger; Cataract; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Congenital onset; Cortical gyral simplification; Cutaneous photosensitivity; Death in infancy; Deeply set eye; Dislocated radial head; EEG abnormality; Everted lower lip vermilion; Failure to thrive in infancy; Feeding difficulties in infancy; Flared metaphysis; Flexion contracture of toe; Global developmental delay; Hip dislocation; Hyperreflexia; Hypertonia; Hypogonadism; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Microphthalmia; Muscular hypotonia; Nystagmus; Polymicrogyria; Premature closure of fontanelles; Prominent metopic ridge; Prominent nasal bridge; Reduced tendon reflexes; Rocker bottom foot; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Short neck; Short philtrum; Short stature; Slender long bone; Variable expressivity; Visual impairment; Wide nasal bridge
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
ERF19q13.2100%gene with protein product611888Abnormal facial shape; Abnormal form of the vertebral bodies; Anteverted nares; Arnold-Chiari malformation; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Bronchomalacia; Cerebellar hypoplasia; Cognitive impairment; Conductive hearing impairment; Conjunctivitis; Convex nasal ridge; Craniosynostosis; Depressed nasal bridge; Dolichocephaly; External ear malformation; Finger syndactyly; Flat occiput; Frontal bossing; High forehead; Hypertelorism; Hypoplasia of the maxilla; Increased intracranial pressure; Interstitial pulmonary abnormality; Lambdoidal craniosynostosis; Limitation of joint mobility; Low-set, posteriorly rotated ears; Malar flattening; Midface retrusion; Multiple suture craniosynostosis; Muscular hypotonia; Plagiocephaly; Polyhydramnios; Posterior plagiocephaly; Prominent forehead; Proptosis; Ptosis; Recurrent respiratory infections; Retrognathia; Short columella; Skeletal dysplasia; Stomatocytosis; Strabismus; Thick vermilion border; Tracheomalacia; TurricephalyBone Marrow Failure Syndromes
ERMARD6q27100%gene with protein product615532C6orf70Abnormal facial shape; Autosomal dominant inheritance; Cerebellar hypoplasia; Colpocephaly; Delayed speech and language development; Dysmetria; Failure to thrive; Gait ataxia; Global developmental delay; Heterotopia; High, narrow palate; Hypermetropia; Hypertelorism; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile muscular hypotonia; Intellectual disability, mild; Joint laxity; Low anterior hairline; Low-set, posteriorly rotated ears; Micrognathia; Nystagmus; Periventricular gray matter heterotopia; Polymicrogyria; Seizures; Strabismus; Thick vermilion border
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
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
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 productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal 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 productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal 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 productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal 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)
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
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
FRMD4A10p1399.84%gene with protein product616305FRMD4Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Ataxia; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital microcephaly; Everted lower lip vermilion; Global developmental delay; Hirsutism; Intellectual disability; Long eyelashes; Low anterior hairline; Low-set ears; Narrow forehead; Posteriorly rotated ears; Protruding ear; Sparse hair; Strabismus; Thick eyebrow; Upper eyelid edema
GMPPB3p21.31100%gene with protein product615320Abnormality of the voice; Absent speech; Ataxia; Autosomal recessive inheritance; Cataract; Cerebellar hypoplasia; Cleft palate; Cognitive impairment; Congenital muscular dystrophy; Congenital onset; Decreased fetal movement; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Exercise intolerance; Feeding difficulties; Gait disturbance; Generalized hypotonia; Generalized limb muscle atrophy; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of the pons; Intellectual disability; Intellectual disability, severe; Microcephaly; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathic facies; Myopathy; Myopia; Neurological speech impairment; Oligohydramnios; Optic atrophy; Poor head control; Proximal muscle weakness; Seizures; Sensorineural hearing impairment; Strabismus; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
GPSM21p13.399.95%gene with protein product609245DFNB82Arachnoid cyst; Autosomal recessive inheritance; Cerebellar dysplasia; Cerebellar hypoplasia; Dysplastic corpus callosum; Gray matter heterotopias; Hydrocephalus; Hypoplasia of the corpus callosum; Large foramen magnum; Partial agenesis of the corpus callosum; Polymicrogyria; Severe sensorineural hearing impairment; Ventriculomegaly
GPX419p13.3100%gene with protein product13832211 pairs of ribs; Abnormality of the ribs; Abnormality of the scapula; Arrhythmia; Atrial septal defect; Atrioventricular block; Autosomal recessive inheritance; Brachydactyly; Cardiorespiratory arrest; Cerebellar hypoplasia; Cone-shaped epiphyses of the phalanges of the hand; Cone-shaped metacarpal epiphyses; Cupped ribs; Delayed epiphyseal ossification; Delayed skeletal maturation; Depressed nasal bridge; Flared iliac wings; Flat acetabular roof; Focal lissencephaly; Generalized hypotonia; Iliac crest serration; Irregular tarsal bones; Large posterior fontanelle; Long fibula; Metaphyseal chondrodysplasia; Metaphyseal cupping; Metaphyseal irregularity; Muscular hypotonia; Narrow chest; Narrow greater sacrosciatic notches; Platyspondyly; Porencephalic cyst; Posteriorly rotated ears; Redundant skin; Rhizomelia; Rhizomelic arm shortening; Short finger; Short long bone; Short metacarpal; Short neck; Short palm; Short phalanx of finger; Short ribs; Short toe; Spondylometaphyseal dysplasia; Talipes equinovarus; Turricephaly; Widened sacrosciatic notch
INPP5K17p13.399.99%gene with protein product607875Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of finger; Abnormality of the cerebellar vermis; Abnormality of the metacarpal bones; Aplasia/Hypoplasia involving the skeletal musculature; Ataxia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Brachydactyly; Cataract; Cerebellar hypoplasia; Coxa valga; Dysarthria; Dyskinesia; Dysphonia; Elevated serum creatine phosphokinase; External genital hypoplasia; Generalized hypotonia; Global developmental delay; Gowers sign; Hip dislocation; Hip dysplasia; Hyperlordosis; Hypogonadism; Increased adipose tissue; Intellectual disability; Metatarsus valgus; Motor delay; Muscle flaccidity; Muscle stiffness; Muscular dystrophy; Muscular hypotonia; Myopathy; Nystagmus; Pectus carinatum; Progressive; Rigidity; Scoliosis; Severe short stature; Short palm; Short stature; Skeletal muscle atrophy; Spasticity; Specific learning disability; Spinal rigidity; Strabismus; Toe walking
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
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
ITPR13p26.199.99%gene with protein product147265SCA15, SCA16, SCA29Abnormality of movement; Aniridia; Ataxia; Autosomal recessive inheritance; Cerebellar hypoplasia; Global developmental delay; Hypoplasia of the iris; Intellectual disability; Mask-like facies; Motor delay; Muscular hypotonia; Nystagmus; Postural tremor; Scanning speech; Slurred speech; Visual impairment
KIAA055616p12.1100%gene with protein productFormer name = KATNIP616650KATNIPAnteverted nares; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Central hypothyroidism; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital onset; Episodic tachypnea; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Global developmental delay; Growth hormone deficiency; Hypertelorism; Inferior vermis hypoplasia; Intellectual disability; Long face; Micropenis; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Panhypopituitarism; Ptosis; Recurrent upper respiratory tract infections; Short stature
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
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
LAMB17q31.1100%gene with protein product150240CLMAbnormality of the cerebral white matter; Autosomal recessive inheritance; Cerebellar hypoplasia; Generalized hypotonia; Gray matter heterotopias; Hydrocephalus; Hypoplasia of the brainstem; Intellectual disability; Leukoencephalopathy; Macrocephaly; Muscular hypotonia; Occipital encephalocele; Porencephalic cyst; Progressive; Seizures; Severe global developmental delay; Spastic paraplegia; Type II lissencephaly; Variable expressivity
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)
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)
MAP2K219p13.3100%gene with protein product601263PRKMK2Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormal heart valve morphology; Abnormal ventricular septum morphology; Abnormality of lateral ventricle; Abnormality of the helix; Abnormality of the lymphatic system; Abnormality of the sternum; Abnormality of the thorax; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Biparietal narrowing; Brittle hair; Cavernous hemangioma; Cerebellar hypoplasia; Coarse facial features; Congenital cataract; Cryptorchidism; Deep palmar crease; Depressed nasal bridge; Downslanted palpebral fissures; Dry skin; Dysphagia; Dystrophic fingernails; EEG abnormality; Epicanthus; Excessive wrinkled skin; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Generalized hyperpigmentation; Global developmental delay; Heat intolerance; High forehead; High palate; Hyperextensible skin; Hyperhidrosis; Hypertelorism; Hypertrophic cardiomyopathy; Hypoplasia of the corpus callosum; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Multiple cafe-au-lait spots; Multiple lentigines; Muscular hypotonia; Myopia; Narrow forehead; Nystagmus; Optic nerve hypoplasia; Palmoplantar keratoderma; Pectus excavatum; Premature birth; Prolonged bleeding time; Ptosis; Pulmonic stenosis; Scoliosis; Short neck; Short nose; Short stature; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Specific learning disability; Strabismus; Telecanthus; Thickened helices; Underdeveloped supraorbital ridges; Webbed neck
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
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
MUSK9q31.3100%gene with protein product601296Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Depressed nasal tip; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Facial palsy; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Infantile onset; Intrauterine growth retardation; Long philtrum; Micrognathia; Multiple joint contractures; Muscular hypotonia; Narrow mouth; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand
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
OCLN5q13.282.5%gene with protein product602876Abnormality of movement; Anteverted nares; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Decreased liver function; Elevated hepatic transaminases; Failure to thrive; Global developmental delay; Hepatomegaly; High palate; Hyperreflexia; Increased CSF protein; Intellectual disability, profound; Jaundice; Lissencephaly; Long philtrum; Low-set ears; Microcephaly; Microretrognathia; Muscular hypotonia of the trunk; Nystagmus; Pachygyria; Petechiae; Phenotypic variability; Polymicrogyria; Seizures; Sloping forehead; Spasticity; Splenomegaly; Thrombocytopenia; Ventriculomegaly
OPHN1Xq1299.97%gene with protein product300127MRX60Attention deficit hyperactivity disorder; Autism; Cerebellar hypoplasia; Cryptorchidism; Deeply set eye; Delayed speech and language development; Disorganization of the anterior cerebellar vermis; Dysmetria; Enlarged cisterna magna; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypotelorism; Infantile onset; Intellectual disability; Long face; Long nose; Macrocephaly; Macrotia; Mandibular prognathia; Micropenis; Microphallus; Muscular hypotonia; Neurological speech impairment; Nystagmus; Prominent forehead; Prominent supraorbital ridges; Retrocerebellar cyst; Scrotal hypoplasia; Seizures; Short philtrum; Spasticity; Strabismus; Thin upper lip vermilion; X-linked recessive inheritanceDisorders of Sex Development
OPHN1Xq1299.97%gene with protein product300127MRX60Attention deficit hyperactivity disorder; Autism; Cerebellar hypoplasia; Cryptorchidism; Deeply set eye; Delayed speech and language development; Disorganization of the anterior cerebellar vermis; Dysmetria; Enlarged cisterna magna; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypotelorism; Infantile onset; Intellectual disability; Long face; Long nose; Macrocephaly; Macrotia; Mandibular prognathia; Micropenis; Microphallus; Muscular hypotonia; Neurological speech impairment; Nystagmus; Prominent forehead; Prominent supraorbital ridges; Retrocerebellar cyst; Scrotal hypoplasia; Seizures; Short philtrum; Spasticity; Strabismus; Thin upper lip vermilion; X-linked recessive inheritanceDisorders of Sex Development
PAFAH1B117p13.396.91%gene with protein product601545MDCR, MDSAbnormality of the cardiovascular system; Abnormality of the cerebral white matter; Abnormality of upper lip; Anteverted nares; Cerebellar hypoplasia; Cerebral cortical atrophy; Downslanted palpebral fissures; EEG abnormality; Epicanthus; Frontal bossing; Global developmental delay; Growth delay; Heterotopia; High forehead; Hypertelorism; Hypoplasia of the brainstem; Intellectual disability; Lissencephaly; Low-set ears; Muscular hypotonia; Muscular hypotonia of the trunk; Narrow mouth; Pachygyria; Polyhydramnios; Postnatal microcephaly; Seizures; Short neck; Short nose; Spastic tetraparesis; Sporadic; Variable expressivity; Ventriculomegaly; Wide nose
PARN16p13.1299.86%gene with protein product604212Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of skin pigmentation; Abnormality of the fingernails; Abnormality of the pharynx; Adult onset; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Clubbing of fingers; Cough; Dermal atrophy; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Infantile onset; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Nail dystrophy; Oral leukoplakia; Periodontitis; Premature graying of hair; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular pattern on pulmonary HRCT; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Variable expressivity; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
PARN16p13.1299.86%gene with protein product604212Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of skin pigmentation; Abnormality of the fingernails; Abnormality of the pharynx; Adult onset; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Clubbing of fingers; Cough; Dermal atrophy; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Infantile onset; Intellectual disability; Intrauterine growth retardation; Malabsorption; Microcephaly; Nail dystrophy; Oral leukoplakia; Periodontitis; Premature graying of hair; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular pattern on pulmonary HRCT; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Variable expressivity; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
PAX611p1399.98%gene with protein product607108AN2Abnormal best corrected visual acuity test; Abnormality of movement; Abnormality of retinal pigmentation; Abnormality of the optic disc; Abnormality of the vagina; Abnormality of vision; Amblyopia; Aniridia; Anterior synechiae of the anterior chamber; Aplasia/Hypoplasia of the iris; Aplasia/Hypoplasia of the macula; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Central opacification of the cornea; Cerebellar hypoplasia; Chorioretinal coloboma; Congenital glaucoma; Congenital nystagmus; Contiguous gene syndrome; Corneal opacity; Cryptorchidism; Displacement of the external urethral meatus; EEG abnormality; Everted lower lip vermilion; Generalized hyperpigmentation; Glaucoma; Global developmental delay; Hearing abnormality; Hypoplasia of the corpus callosum; Hypoplasia of the fovea; Hypoplasia of the iris; Hypospadias; Intellectual disability; Keratitis; Mask-like facies; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Nephroblastoma; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc hypoplasia; Optic nerve aplasia; Optic nerve coloboma; Optic nerve hypoplasia; Peripheral vitreous opacities; Peters anomaly; Postural tremor; Presenile cataracts; Pseudopapilledema; Ptosis; Reduced visual acuity; Retinal detachment; Scanning speech; Short stature; Slurred speech; Somatic mutation; Strabismus; Streak ovary; Subcapsular cataract; Thinning of Descemet membrane; Visual impairment; Visual loss
PCLO7q21.1199.73%gene with protein product604918Autosomal recessive inheritance; Brachycephaly; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral atrophy; Congenital onset; Decreased body weight; Depressed nasal bridge; Downturned corners of mouth; Full cheeks; Global developmental delay; Hearing impairment; High palate; High, narrow palate; Hyperreflexia; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Long palpebral fissure; Long philtrum; Low-set ears; Macrotia; Muscular hypotonia of the trunk; Neonatal hypotonia; Optic atrophy; Poor head control; Progressive; Progressive microcephaly; Proptosis; Seizures; Short stature; Spasticity
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
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
PI4KA22q11.2199.62%gene with protein product600286PIK4CAArthrogryposis multiplex congenita; Autosomal recessive inheritance; Cerebellar dysplasia; Cerebellar hypoplasia; Congenital onset; Dolichocephaly; Externally rotated hips; Micrognathia; Overlapping fingers; Talipes equinovarusInflammatory Bowel Disease
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
PIGAXp22.299.91%gene with protein product311770Abnormality of skin morphology; Abnormality of the pons; Absent septum pellucidum; Absent speech; Anteverted nares; Atrial septal defect; Birth length greater than 97th percentile; Bone marrow hypocellularity; Central hypotonia; Cerebellar hypoplasia; Cerebral cortical atrophy; Coarse facial features; Cortical visual impairment; Death in infancy; Delayed myelination; Depressed nasal bridge; Developmental regression; Downturned corners of mouth; Epileptic encephalopathy; Fatigue; Flexion contracture; Generalized myoclonic seizures; Gingival overgrowth; Hearing impairment; Hemolytic anemia; High palate; Hypercoagulability; Hyperreflexia; Hypertelorism; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile spasms; Large fontanelles; Large for gestational age; Macrocephaly; Malar flattening; Microdontia; Micrognathia; Micropenis; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Neuronal loss in central nervous system; Olfactory lobe agenesis; Overfolded helix; Overgrowth; Paroxysmal nocturnal hemoglobinuria; Postnatal microcephaly; Prominent occiput; Short neck; Small nail; Somatic mutation; Thromboembolism; Triangular mouth; Upslanted palpebral fissure; Variable expressivity; Widely spaced teeth; X-linked recessive inheritance
PIGG4p16.3100%gene with protein product616918Ataxia; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral atrophy; Congenital onset; Delayed speech and language development; EEG with focal spikes; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Hyporeflexia; Intellectual disability, profound; Intrauterine growth retardation; Seizures; Severe muscular hypotonia
PIGT20q13.12100%gene with protein product610272Abdominal pain; Abnormality of the dentition; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Cerebellar hypoplasia; Cerebral atrophy; Deep philtrum; Delayed skeletal maturation; Depressed nasal bridge; Diarrhea; Downturned corners of mouth; Dyspnea; EEG abnormality; Fatigue; Generalized hypotonia; Global developmental delay; Headache; Hemolytic anemia; High forehead; High palate; Hypercalciuria; Hypermetropia; Hypoplasia of the ulna; Infantile onset; Inverted nipples; Large for gestational age; Long philtrum; Macrocephaly; Narrow forehead; Nephrocalcinosis; Nystagmus; Open mouth; Osteopenia; Osteoporosis; Paroxysmal nocturnal hemoglobinuria; Patent ductus arteriosus; Pectus excavatum; Renal cyst; Restrictive cardiomyopathy; Scoliosis; Seizures; Somatic mutation; Strabismus; Ureteral stenosis; Urticaria; Visual impairment
PLG6q26100%gene with protein product173350Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the larynx; Abnormality of the skin; Abnormality of vision; Autosomal recessive inheritance; Blindness; Cerebellar hypoplasia; Chronic irritative conjunctivitis; Conjunctivitis; Dandy-Walker malformation; Decreased level of plasminogen; Duodenal ulcer; Epiphora; Gastrointestinal inflammation; Gingival overgrowth; Gingivitis; Global developmental delay; Hydrocephalus; Infantile onset; Keratoconjunctivitis; Macrocephaly; Nephrolithiasis; Periodontitis; Poor wound healing; Premature loss of teeth; Recurrent bronchitis; Recurrent otitis media; Recurrent pharyngitis; Recurrent pneumonia; Recurrent upper respiratory tract infections; Stomatitis
PLG6q26100%gene with protein product173350Abnormality of metabolism/homeostasis; Abnormality of the ear; Abnormality of the larynx; Abnormality of the skin; Abnormality of vision; Autosomal recessive inheritance; Blindness; Cerebellar hypoplasia; Chronic irritative conjunctivitis; Conjunctivitis; Dandy-Walker malformation; Decreased level of plasminogen; Duodenal ulcer; Epiphora; Gastrointestinal inflammation; Gingival overgrowth; Gingivitis; Global developmental delay; Hydrocephalus; Infantile onset; Keratoconjunctivitis; Macrocephaly; Nephrolithiasis; Periodontitis; Poor wound healing; Premature loss of teeth; Recurrent bronchitis; Recurrent otitis media; Recurrent pharyngitis; Recurrent pneumonia; Recurrent upper respiratory tract infections; Stomatitis
PMPCA9q34.3100%gene with protein product613036INPP5EAbnormality of the retinal vasculature; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Cataract; Cerebellar hypoplasia; Delayed speech and language development; Dysarthria; Dysmetria; Gait ataxia; Gait disturbance; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Hyperreflexia; Incoordination; Infantile onset; Intellectual disability; Limb ataxia; Malabsorption; Muscular hypotonia; Nonprogressive; Nystagmus; Ocular albinism; Saccadic smooth pursuit; Scoliosis; Spasticity; Tremor; Unsteady gait; White hair
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
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
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)
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
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
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
PSAT19q21.299.93%gene with protein product610936Abnormality of the philtrum; Abnormality of the pinna; Absent septum pellucidum; Ambiguous genitalia; Aplasia/Hypoplasia involving the skeletal musculature; Autosomal recessive inheritance; Broad foot; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Congenital onset; Dandy-Walker malformation; Decreased fetal movement; Depressed nasal ridge; Everted lower lip vermilion; External genital hypoplasia; Feeding difficulties in infancy; Global developmental delay; High palate; Hypertelorism; Hypertonia; Hypoglycinemia; Hypogonadism; Hyposerinemia; Ichthyosis; Infantile onset; Intrauterine growth retardation; Lack of skin elasticity; Large hands; Lissencephaly; Low-set ears; Macrogyria; Macrotia; Microcephaly; Micrognathia; Muscle cramps; Muscular dystrophy; Opisthotonus; Pachygyria; Polyhydramnios; Polymicrogyria; Postnatal microcephaly; Proptosis; Rocker bottom foot; Scoliosis; Seizures; Short neck; Skeletal muscle atrophy; Sloping forehead; Thick vermilion border; TrismusPalmoplantar keratoderma plus congenital ichthyosis
PTF1A10p12.2100%gene with protein product607194Abnormality of the pinna; Aplasia/Hypoplasia of the pancreas; Autosomal recessive inheritance; Cerebellar agenesis; Cerebellar hypoplasia; Convex nasal ridge; Death in infancy; Failure to thrive; Joint stiffness; Low-set ears; Microcephaly; Neonatal insulin-dependent diabetes mellitus; Optic nerve hypoplasia; Reduced subcutaneous adipose tissue; Seizures; Short chin; Small for gestational age; Steatorrhea; Triangular face
RAB3GAP12q21.399.8%gene with protein product602536Abnormal dermatoglyphics; Abnormal toenail morphology; Abnormality of retinal pigmentation; Abnormality of the distal phalanx of finger; Abnormality of visual evoked potentials; Agenesis of corpus callosum; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Brachycephaly; Cataract; Cerebellar hypoplasia; Cerebral atrophy; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Deeply set eye; Delayed puberty; Depressed nasal bridge; Everted lower lip vermilion; External genital hypoplasia; Facial hypertrichosis; Failure to thrive; Feeding difficulties in infancy; Furrowed tongue; Generalized hirsutism; Generalized hypotonia; Global developmental delay; High palate; Hyperlordosis; Hyperreflexia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Hypotelorism; Intellectual disability; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Kyphosis; Lissencephaly; Low posterior hairline; Low-set, posteriorly rotated ears; Macrotia; Malar flattening; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Midface retrusion; Misalignment of teeth; Muscular hypotonia; Optic atrophy; Osteoporosis; Pachygyria; Prematurely aged appearance; Ptosis; Scoliosis; Short nose; Short philtrum; Short stature; Spastic diplegia; Spasticity; Ulnar deviation of finger; Wide nasal bridge
RAPSN11p11.2100%gene with protein product601592Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Congenital onset; Cryptorchidism; Cystic hygroma; Decreased fetal movement; Depressed nasal bridge; Depressed nasal tip; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Feeding difficulties; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High palate; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Intrauterine growth retardation; Long face; Long philtrum; Micrognathia; Multiple joint contractures; Muscular hypotonia; Narrow mouth; Neonatal hypotonia; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand
RARS26q1599.36%gene with protein product611524RARSLAbsent speech; Apnea; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral atrophy; Congenital onset; Death in childhood; Deeply set eye; Failure to thrive; Generalized hypotonia; Global developmental delay; Hyperreflexia; Increased CSF lactate; Increased serum lactate; Lower limb spasticity; Narrow forehead; Narrow palate; Poor head control; Poor suck; Progressive; Progressive microcephaly; Prominent nasal bridge; Seizures; Upper limb spasticity; Variable expressivity
RBBP818q11.299.51%gene with protein product604124SCKL24-5 toe syndactyly; Abnormality of dental enamel; Absent earlobe; Absent fourth finger distal interphalangeal crease; Aggressive behavior; Autosomal recessive inheritance; Cachexia; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Cognitive impairment; Cone-shaped epiphysis; Congenital microcephaly; Convex nasal ridge; Craniosynostosis; Delayed skeletal maturation; Downslanted palpebral fissures; Few cafe-au-lait spots; Glaucoma; Growth delay; Hallux valgus; Heart murmur; Hip dysplasia; Hypospadias; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Microcephaly; Microdontia; Microglossia; Micrognathia; Microphthalmia; Mild global developmental delay; Narrow face; Narrow forehead; Prematurely aged appearance; Prominent nose; Reduced number of teeth; Retrognathia; Sandal gap; Short middle phalanx of the 5th finger; Short stature; Single interphalangeal crease of fifth finger; Small for gestational age; Sparse scalp hair; Thoracic scoliosis
RBM10Xp11.399.52%gene with protein product300080Abnormality of the corpus callosum; Anteverted nares; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Clinodactyly; Cutaneous syndactyly; Deep palmar crease; Failure to thrive; Generalized hypotonia; Global developmental delay; Glossoptosis; High palate; Horseshoe kidney; Hydronephrosis; Hypoplasia of the radius; Intrauterine growth retardation; Large fontanelles; Low-set ears; Micrognathia; Microtia; Posteriorly rotated ears; Prominent antihelix; Short palpebral fissure; Single transverse palmar crease; Talipes equinovarus; Underdeveloped supraorbital ridges; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritance
RNF113AXq24100%gene with protein product300951ZNF183Brittle hair; Cerebellar hypoplasia; Chronic diarrhea; Cutaneous photosensitivity; Cutis marmorata; Dandy-Walker malformation; Decreased antibody level in blood; Global brain atrophy; High forehead; Intellectual disability; Intellectual disability, profound; Intrauterine growth retardation; Mandibular prognathia; Microcephaly; Micropenis; Optic nerve hypoplasia; Progeroid facial appearance; Progressive microcephaly; Recurrent infections; Retinal dystrophy; Short stature; Slow-growing hair; Sparse hair; Wide mouth; Widely spaced primary teeth; X-linked dominant inheritancePalmoplantar keratoderma plus congenital ichthyosis
ROGDI16p13.3100%gene with protein product614574Amelogenesis imperfecta; Ataxia; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral atrophy; Dementia; Developmental regression; EEG abnormality; Epileptic encephalopathy; Hypohidrosis; Hypoplasia of dental enamel; Hypsarrhythmia; Intellectual disability, severe; Seizures; Spasticity; Variable expressivity; Ventriculomegaly; Yellow-brown discoloration of the teeth
RTEL120q13.3399.99%gene with protein product608833C20orf41Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Adult onset; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Clubbing of fingers; Cough; Decreased antibody level in blood; Dermal atrophy; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Intellectual disability; Intrauterine growth retardation; Leukopenia; Malabsorption; Microcephaly; Nail dystrophy; Oral leukoplakia; Periodontitis; Postnatal growth retardation; Premature graying of hair; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular pattern on pulmonary HRCT; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Variable expressivity; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
RTEL120q13.3399.99%gene with protein product608833C20orf41Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Adult onset; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic/hypoplastic toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Clubbing of fingers; Cough; Decreased antibody level in blood; Dermal atrophy; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Incomplete penetrance; Intellectual disability; Intrauterine growth retardation; Leukopenia; Malabsorption; Microcephaly; Nail dystrophy; Oral leukoplakia; Periodontitis; Postnatal growth retardation; Premature graying of hair; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular pattern on pulmonary HRCT; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; Variable expressivity; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Inflammatory Bowel Disease
RXYLT112q14.299.69%gene with protein product605862TMEM5Abnormal 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 dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Glaucoma; Global developmental delay; Gonadal dysgenesis; 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 lissencephalyMuscular dystropy-dystroglycanopathy (Walker-Warburg)
SIL15q31.2100%gene with protein product608005MSSAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of finger; Abnormality of the cerebellar vermis; Abnormality of the metacarpal bones; Aplasia/Hypoplasia involving the skeletal musculature; Ataxia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Brachydactyly; Cataract; Centrally nucleated skeletal muscle fibers; Cerebellar cortical atrophy; Cerebellar hypoplasia; Congenital cataract; Coxa valga; Cubitus valgus; Dysarthria; Dyskinesia; Dysphonia; Elevated serum creatine phosphokinase; External genital hypoplasia; Failure to thrive; Flexion contracture; Gait ataxia; Generalized hypotonia; Global developmental delay; Hip dislocation; Hip dysplasia; Hypergonadotropic hypogonadism; Hypogonadism; Infantile onset; Intellectual disability; Kyphosis; Limb ataxia; Metatarsus valgus; Microcephaly; Muscle flaccidity; Muscle stiffness; Muscular dystrophy; Muscular hypotonia; Myopathy; Nystagmus; Pectus carinatum; Pes planus; Progressive muscle weakness; Rigidity; Scoliosis; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short stature; Skeletal muscle atrophy; Spasticity; Specific learning disability; StrabismusRhabdomyolysis
SIX32p21100%gene with protein product603714HPE2Absent nasal septal cartilage; Adrenal hypoplasia; Agenesis of corpus callosum; Anterior pituitary agenesis; Aplasia of the nose; Autosomal dominant inheritance; Bifid uvula; Cerebellar hypoplasia; Constipation; Cyclopia; Diabetes insipidus; Generalized hypotonia; Global developmental delay; Heterogeneous; Holoprosencephaly; Hypotelorism; Incomplete penetrance; Intellectual disability; Malar flattening; Median cleft lip and palate; Microcephaly; Microphthalmia; Midface retrusion; Schizencephaly; Scoliosis; Seizures; Single median maxillary incisor; Sporadic; Submucous cleft hard palate; Variable expressivity
SLC1A35p13.2100%gene with protein product600111Autosomal dominant inheritance; Cerebellar hypoplasia; Diplopia; Dysarthria; Episodic ataxia; Generalized hypotonia; Hemiparesis; Hemiplegia; Migraine; Motor delay; Nausea; Phonophobia; Photophobia; Seizures; Slurred speech; Truncal ataxia; Vertigo; Vomiting
SLC25A122q11.2199.97%gene with protein product190315SLC20A3Autosomal recessive inheritance; Cerebellar hypoplasia; Delayed myelination; Dyspnea; Encephalopathy; Feeding difficulties; Global developmental delay; Irritability; L-2-hydroxyglutaric aciduria; Poor eye contact; Respiratory insufficiency; Seizures; Severe muscular hypotonia; Stridor; Ventriculomegaly
SLC25A1917q25.1100%gene with protein product606521MCPHAAgenesis of corpus callosum; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital onset; Contractures of the joints of the lower limbs; Death in infancy; Difficulty walking; Feeding difficulties; Flexion contracture; Hepatomegaly; Hyporeflexia; Increased CSF lactate; Irritability; Lactic acidosis; Lethargy; Limb hypertonia; Lissencephaly; Metabolic acidosis; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Muscular hypotonia of the trunk; Optic atrophy; Organic aciduria; Osteoporosis; Paralysis; Partial agenesis of the corpus callosum; Peripheral axonal neuropathy; Polyneuropathy; Progressive microcephaly; Severe global developmental delay; Skeletal muscle atrophy; Sloping forehead; Spina bifida; Talipes equinovarus; Temperature instability; Ventriculomegaly
SLC35A2Xp11.23100%gene with protein product314375UGALTCerebellar hypoplasia; Cerebral atrophy; Coarse facial features; Delayed myelination; Epileptic encephalopathy; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile onset; Microcephaly; Nystagmus; Open mouth; Recurrent infections; Rod-cone dystrophy; Seizures; Somatic mosaicism; Thick eyebrow; Thick vermilion border; Wide nasal bridge; X-linked dominant inheritance
SMARCE117q21.299.74%gene with protein product603111Abnormality of cardiovascular system morphology; Abnormality of the dentition; Absent speech; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the distal phalanx of the 5th finger; Aplasia/Hypoplasia of the patella; Arachnodactyly; Atrial septal defect; Autosomal dominant inheritance; Cerebellar hypoplasia; Coarse facial features; Cryptorchidism; Dandy-Walker malformation; Depressed nasal bridge; Depressed nasal ridge; Dystrophic toenail; Elbow dislocation; Feeding difficulties; Feeding difficulties in infancy; Generalized hirsutism; Global developmental delay; Hearing impairment; Hypoplasia of the corpus callosum; Hypoplastic fifth fingernail; Hypoplastic toenails; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Long eyelashes; Low anterior hairline; Microcephaly; Muscular hypotonia; Nystagmus; Ptosis; Recurrent infections; Recurrent respiratory infections; Sandal gap; Scoliosis; Seizures; Short distal phalanx of finger; Short philtrum; Short stature; Slow-growing hair; Sparse scalp hair; Strabismus; Thick eyebrow; Thick lower lip vermilion; Thick nasal alae; Thin upper lip vermilion; Wide mouth; Wide nasal bridge; Wide nose
SNX146q14.399.85%gene with protein product616105Anteverted nares; Apraxia; Ataxia; Autistic behavior; Autosomal recessive inheritance; Babinski sign; Brachydactyly; Broad face; Broad philtrum; Camptodactyly; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral cortical atrophy; Clinodactyly; Coarse facial features; Delayed eruption of teeth; Dental crowding; Epicanthus; Generalized hypotonia; Global developmental delay; High palate; Hyporeflexia; Inability to walk; Infantile onset; Long philtrum; Prominent forehead; Relative macrocephaly; Short palpebral fissure; Spasticity; Talipes equinovarus; Thick vermilion border; Wide nasal base
SON21q22.11100%gene with protein product182465C21orf50Abnormality of the dentition; Abnormality of the ribs; Arachnoid cyst; Autosomal dominant inheritance; Cerebellar hypoplasia; Cleft palate; Cortical visual impairment; Craniosynostosis; Deeply set eye; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Facial asymmetry; Failure to thrive; Feeding difficulties; Flexion contracture; Frontal bossing; Generalized hypotonia; Global developmental delay; Hemivertebrae; High palate; Horseshoe kidney; Hypermetropia; Hypoplasia of the corpus callosum; Intellectual disability; Joint hypermobility; Kyphosis; Low-set ears; Narrow mouth; Optic atrophy; Scoliosis; Short foot; Short philtrum; Short stature; Small hand; Strabismus; Thin upper lip vermilion; Ventriculomegaly; Wide nasal bridge
STUB116p13.3100%gene with protein product607207Autosomal recessive inheritance; Cerebellar atrophy; Cerebellar hypoplasia; Dysarthria; Limb ataxia; Progressive; Truncal ataxia; Unsteady gait
TAPT14p15.3299.91%gene with protein product612758Adducted thumb; Anteverted nares; Ascites; Autosomal recessive inheritance; Beaded ribs; Brachycephaly; Cardiomegaly; Cerebellar hypoplasia; Cleft palate; Decreased skull ossification; Flared metaphysis; Flat face; Flexion contracture; Fractured radius; Hydronephrosis; Hydrops fetalis; Hypertelorism; Hypertrophic cardiomyopathy; Hypospadias; Intrauterine growth retardation; Large fleshy ears; Limb undergrowth; Low-set ears; Microcephaly; Micrognathia; Micropenis; Multiple prenatal fractures; Multiple rib fractures; Osteopenia; Platyspondyly; Pleural effusion; Polyhydramnios; Posteriorly rotated ears; Prominent forehead; Pulmonary hypoplasia; Short femur; Short neck; Short nose; Short ribs; Single umbilical artery; Small for gestational age; Telecanthus; Thoracic hypoplasia; Unilateral cleft lip; Ventricular septal defect; Ventriculomegaly; Webbed neck; Wide nasal bridge; Wormian bones
TBCK4q2499.95%gene with protein product616899Abnormality of the periventricular white matter; Autosomal recessive inheritance; Brain atrophy; Bulbous nose; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cerebral atrophy; Coarse facial features; Congenital onset; Dysplastic corpus callosum; Encephalopathy; Hypoplasia of the corpus callosum; Hyporeflexia; Narrow forehead; Poor speech; Prominent nasal bridge; Sloping forehead; Small basal ganglia; Tented upper lip vermilion; Thick vermilion border; Variable expressivity
TCTN212q24.3199.98%gene with protein product613846C12orf38Abdominal distention; Abnormal chorioretinal morphology; Absent speech; Anophthalmia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Broad forehead; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Cleft upper lip; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Dysmetria; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperechogenic kidneys; Hypermetropia; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pachygyria; Polydactyly; Polymicrogyria; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short neck; Short nose; Sloping forehead; Spasticity; Talipes; Talipes equinovarusHeterotaxy
TERC3q26.2100%RNA, miscRNA gene specifically targeted for capture602322Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cirrhosis; Clubbing of fingers; Cough; Dermal atrophy; Esophageal stenosis; Exertional dyspnea; Gastroesophageal reflux; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypodontia; Hypopigmented skin patches; Interstitial pneumonitis; Intrauterine growth retardation; Lymphopenia; Malabsorption; Myelodysplasia; Nail dystrophy; Nail pits; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Premature graying of hair; Premature loss of teeth; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticular pattern on pulmonary HRCT; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Specific learning disability; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosisAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
TERT5p15.33100%gene with protein product187270Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the hair; Abnormality of the lymphatic system; Abnormality of the pharynx; Alopecia; Alveolar cell carcinoma; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Cirrhosis; Clubbing of fingers; Cough; Dermal atrophy; Dry skin; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Freckling; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Increased antibody level in blood; Intellectual disability; Interstitial pneumonitis; Intrauterine growth retardation; Lymphopenia; Malabsorption; Melanoma; Microcephaly; Myelodysplasia; Nail dystrophy; Nail pits; Nevus; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Pneumonia; Premature graying of hair; Premature loss of teeth; Pulmonary arterial hypertension; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticular pattern on pulmonary HRCT; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Specific learning disability; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
TERT5p15.33100%gene with protein product187270Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the hair; Abnormality of the lymphatic system; Abnormality of the pharynx; Alopecia; Alveolar cell carcinoma; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Bronchiectasis; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral cortical atrophy; Cirrhosis; Clubbing of fingers; Cough; Dermal atrophy; Dry skin; Esophageal stenosis; Excessive wrinkled skin; Exertional dyspnea; Failure to thrive; Freckling; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Ground-glass opacification on pulmonary HRCT; Honeycomb lung; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Increased antibody level in blood; Intellectual disability; Interstitial pneumonitis; Intrauterine growth retardation; Lymphopenia; Malabsorption; Melanoma; Microcephaly; Myelodysplasia; Nail dystrophy; Nail pits; Nevus; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Pneumonia; Premature graying of hair; Premature loss of teeth; Pulmonary arterial hypertension; Pulmonary fibrosis; Rales; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticular pattern on pulmonary HRCT; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Specific learning disability; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes ; Palmoplantar keratoderma plus congenital ichthyosis
TINF214q12100%gene with protein product604319Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of metabolism/homeostasis; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Cirrhosis; Cryptorchidism; Delayed speech and language development; Dermal atrophy; Dry skin; Epiphora; Esophageal stenosis; Excessive wrinkled skin; Exudative retinopathy; Failure to thrive; Fine hair; Fine, reticulate skin pigmentation; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hearing impairment; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Intellectual disability; Interstitial pneumonitis; Intrauterine growth retardation; Leukocoria; Leukopenia; Lymphopenia; Malabsorption; Megalocornea; Microcephaly; Myelodysplasia; Nail dysplasia; Nail dystrophy; Nail pits; Nystagmus; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Premature graying of hair; Premature loss of teeth; Progressive neurologic deterioration; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticulated skin pigmentation; Retinopathy; Ridged fingernail; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Specific learning disability; Sporadic; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
TINF214q12100%gene with protein product604319Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of metabolism/homeostasis; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Cirrhosis; Cryptorchidism; Delayed speech and language development; Dermal atrophy; Dry skin; Epiphora; Esophageal stenosis; Excessive wrinkled skin; Exudative retinopathy; Failure to thrive; Fine hair; Fine, reticulate skin pigmentation; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hearing impairment; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Intellectual disability; Interstitial pneumonitis; Intrauterine growth retardation; Leukocoria; Leukopenia; Lymphopenia; Malabsorption; Megalocornea; Microcephaly; Myelodysplasia; Nail dysplasia; Nail dystrophy; Nail pits; Nystagmus; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Premature graying of hair; Premature loss of teeth; Progressive neurologic deterioration; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticulated skin pigmentation; Retinopathy; Ridged fingernail; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Specific learning disability; Sporadic; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
TINF214q12100%gene with protein product604319Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of metabolism/homeostasis; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Cirrhosis; Cryptorchidism; Delayed speech and language development; Dermal atrophy; Dry skin; Epiphora; Esophageal stenosis; Excessive wrinkled skin; Exudative retinopathy; Failure to thrive; Fine hair; Fine, reticulate skin pigmentation; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hearing impairment; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Intellectual disability; Interstitial pneumonitis; Intrauterine growth retardation; Leukocoria; Leukopenia; Lymphopenia; Malabsorption; Megalocornea; Microcephaly; Myelodysplasia; Nail dysplasia; Nail dystrophy; Nail pits; Nystagmus; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Premature graying of hair; Premature loss of teeth; Progressive neurologic deterioration; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticulated skin pigmentation; Retinopathy; Ridged fingernail; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Specific learning disability; Sporadic; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
TINF214q12100%gene with protein product604319Abnormal blistering of the skin; Abnormality of coagulation; Abnormality of female internal genitalia; Abnormality of metabolism/homeostasis; Abnormality of neutrophils; Abnormality of the fingernails; Abnormality of the pharynx; Alopecia; Anemia; Anorectal anomaly; Aplasia/Hypoplasia of the skin; Aplastic anemia; Aplastic/hypoplastic toenail; Ataxia; Autosomal dominant inheritance; Bone marrow hypocellularity; Carious teeth; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Cirrhosis; Cryptorchidism; Delayed speech and language development; Dermal atrophy; Dry skin; Epiphora; Esophageal stenosis; Excessive wrinkled skin; Exudative retinopathy; Failure to thrive; Fine hair; Fine, reticulate skin pigmentation; Generalized hyperpigmentation; Generalized hypopigmentation of hair; Global developmental delay; Hearing impairment; Hyperhidrosis; Hypermelanotic macule; Hypertonia; Hypodontia; Hypopigmented skin patches; Immunodeficiency; Intellectual disability; Interstitial pneumonitis; Intrauterine growth retardation; Leukocoria; Leukopenia; Lymphopenia; Malabsorption; Megalocornea; Microcephaly; Myelodysplasia; Nail dysplasia; Nail dystrophy; Nail pits; Nystagmus; Oral leukoplakia; Osteoporosis; Periodontitis; Phenotypic variability; Premature graying of hair; Premature loss of teeth; Progressive neurologic deterioration; Pulmonary fibrosis; Recurrent fractures; Recurrent respiratory infections; Reticular hyperpigmentation; Reticulated skin pigmentation; Retinopathy; Ridged fingernail; Ridged nail; Rough bone trabeculation; Short stature; Skin ulcer; Sparse hair; Sparse scalp hair; Specific learning disability; Sporadic; Squamous cell carcinoma of the skin; Taurodontia; Telangiectasia of the skin; Thrombocytopenia; Tracheoesophageal fistula; Urethral stenosis; VentriculomegalyAplastic Anemia ; Bone Marrow Failure Syndromes
TOE11p34.1100%gene with protein product613931Ambiguous genitalia; Apnea; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral atrophy; Congenital onset; Depressed nasal bridge; Epicanthus; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Macrotia; Micrognathia; Micropenis; Myoclonus; Nystagmus; Oculomotor apraxia; Optic atrophy; Progressive microcephaly; Seizures; Spastic paraplegia; Sporadic; Thick upper lip vermilion; Wide nasal bridge
TRAPPC98q24.3100%gene with protein product611966Abnormality of the cerebellar vermis; Autosomal recessive inheritance; Brachycephaly; Cerebellar hypoplasia; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Congenital hypothyroidism; Congenital stationary night blindness; Downturned corners of mouth; Epicanthus; Generalized myoclonic seizures; Global developmental delay; Horizontal eyebrow; Hyperactivity; Hypertelorism; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intellectual disability, severe; Large fleshy ears; Malignant hyperthermia; Microcephaly; Multifocal cerebral white matter abnormalities; Muscular hypotonia; Narrow forehead; Obesity; Postnatal microcephaly; Round face; Short neck; Short philtrum; Smooth philtrum; Synophrys; Tapered finger; Thin upper lip vermilion; Underdeveloped supraorbital ridges; Wide nasal bridgeObesity
TSEN23p25.2100%gene with protein product608753Autosomal recessive inheritance; Babinski sign; Cerebellar hypoplasia; Chorea; Clonus; Congenital onset; Dystonia; Extrapyramidal dyskinesia; Feeding difficulties; Generalized hypotonia; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Limb hypertonia; Microcephaly; Muscular hypotonia of the trunk; Opisthotonus; Progressive microcephaly; Seizures; Sloping forehead
TSEN5417q25.1100%gene with protein product608755Abnormality of metabolism/homeostasis; Abnormality of the periventricular white matter; Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital contracture; Congenital onset; Death in infancy; Extrapyramidal dyskinesia; Gliosis; Hypoplasia of the brainstem; Hypoplasia of the pons; Impaired smooth pursuit; Infantile encephalopathy; Loss of Purkinje cells in the cerebellar vermis; Microcephaly; Myoclonus; Olivopontocerebellar hypoplasia; Opisthotonus; Polyhydramnios; Poor suck; Progressive microcephaly; Restlessness; Seizures; Severe global developmental delay; Spasticity
TSEN5417q25.1100%gene with protein product608755Abnormality of metabolism/homeostasis; Abnormality of the periventricular white matter; Autosomal recessive inheritance; Cerebellar hypoplasia; Congenital contracture; Congenital onset; Death in infancy; Extrapyramidal dyskinesia; Gliosis; Hypoplasia of the brainstem; Hypoplasia of the pons; Impaired smooth pursuit; Infantile encephalopathy; Loss of Purkinje cells in the cerebellar vermis; Microcephaly; Myoclonus; Olivopontocerebellar hypoplasia; Opisthotonus; Polyhydramnios; Poor suck; Progressive microcephaly; Restlessness; Seizures; Severe global developmental delay; Spasticity
TUBB6p21.33100%gene with protein product191130Abnormality of cardiovascular system morphology; Abnormality of the skin; Ataxia; Autosomal dominant inheritance; Blepharophimosis; Brachycephaly; Cerebellar hypoplasia; Cleft palate; Congenital onset; Delayed speech and language development; Edema; Epicanthus; Flat face; Global developmental delay; High palate; Hypertelorism; Hypoplasia of the brainstem; Hypoplastic nipples; Increased number of skin folds; Intellectual disability; Irregular hyperpigmentation; Localized neuroblastoma; Low-set ears; Microcephaly; Motor delay; Narrow mouth; Periorbital fullness; Posteriorly rotated ears; Short neck; Short palpebral fissure; Thickened skin; Wide intermamillary distance
TUBB2B6p25.291.67%gene with protein product612850Agenesis of corpus callosum; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral palsy; Drooling; Frontoparietal cortical dysplasia; Gait disturbance; Global developmental delay; Hemiparesis; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Lissencephaly; Microcephaly; Motor delay; Muscular hypotonia; Pachygyria; Seizures; Short stature; Skeletal muscle atrophy; Specific learning disability; Strabismus; Unilateral polymicrogyria; Variable expressivity
TUBGCP622q13.33100%gene with protein product610053Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of skin pigmentation; Abnormality of the eyelashes; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Autosomal recessive inheritance; Biparietal narrowing; Cataract; Cerebellar hypoplasia; Cerebral atrophy; Cerebral cortical atrophy; Chorioretinal dysplasia; Congenital onset; Cortical gyral simplification; Global developmental delay; Hypertonia; Intellectual disability; Intrauterine growth retardation; Microcephaly; Microphthalmia; Nystagmus; Optic atrophy; Optic disc pallor; Pachygyria; Pointed chin; Protruding ear; Retinal detachment; Retinal dystrophy; Retinal fold; Scoliosis; Seizures; Short stature; Sloping forehead; Strabismus; Visual impairment; Wide nasal bridge
USP1822q11.295.82%gene with protein product607057Ascites; Autosomal recessive inheritance; Bradycardia; Cerebellar hypoplasia; Cerebral calcification; Cerebral hemorrhage; Congenital onset; Decreased liver function; Generalized hypotonia; Hepatomegaly; Heterotopia; Lactic acidosis; Lethargy; Microcephaly; Patent ductus arteriosus; Petechiae; Polymicrogyria; Respiratory insufficiency; Thrombocytopenia; Ventriculomegaly
VLDLR9p24.2100%gene with protein product192977Abnormality of metabolism/homeostasis; Ataxia; Autosomal recessive inheritance; Broad-based gait; Cataract; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral palsy; Congenital onset; Cortical gyral simplification; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the brainstem; Intellectual disability; Intention tremor; Muscular hypotonia; Nonprogressive; Pachygyria; Pes planus; Poor speech; Seizures; Short stature; Skeletal muscle atrophy; Strabismus; Truncal ataxia
VPS13B8q22.2100%gene with protein product607817CHS1, COH1Abnormality of skin pigmentation; Aplasia/Hypoplasia of the tongue; Arachnodactyly; Autosomal recessive inheritance; Cat cry; Cerebellar hypoplasia; Childhood-onset truncal obesity; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Convex nasal ridge; Cubitus valgus; Decreased fetal movement; Delayed puberty; Downslanted palpebral fissures; Facial hypotonia; Failure to thrive in infancy; Feeding difficulties in infancy; Finger syndactyly; Generalized hypotonia; Genu valgum; Gingival overgrowth; Global developmental delay; Growth hormone deficiency; High, narrow palate; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Laryngomalacia; Leukopenia; Long eyelashes; Low anterior hairline; Lumbar hyperlordosis; Macrodontia; Macrodontia of permanent maxillary central incisor; Microcephaly; Micrognathia; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow palm; Neonatal hypotonia; Neurological speech impairment; Neutropenia; Obesity; Open mouth; Optic atrophy; Pes planus; Prominent nasal bridge; Reduced number of teeth; Reduced visual acuity; Sandal gap; Seizures; Short metacarpal; Short metatarsal; Short philtrum; Short stature; Single transverse palmar crease; Slender toe; Small for gestational age; Tapered finger; Thick corpus callosum; Thick eyebrow; Thick hair; Thoracic scoliosis; Visual impairment; Weak cryAplastic Anemia ; Bone Marrow Failure Syndromes ; Obesity
VRK114q32.2100%gene with protein product602168Abnormality of the foot; Ataxia; Autosomal recessive inheritance; Basal ganglia gliosis; Cerebellar hypoplasia; Congenital contracture; Congenital onset; Degeneration of anterior horn cells; EMG: neuropathic changes; Fasciculations; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the pons; Hypoplasia of the ventral pons; Intellectual disability; Muscle weakness; Neuronal loss in basal ganglia; Progressive; Respiratory insufficiency; Spinal muscular atrophy
WDR8117p13.3100%gene with protein product614218Abnormality of the neck; Aplasia of the inferior half of the cerebellar vermis; Ataxia; Atrophy of the dentate nucleus; Autosomal recessive inheritance; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral palsy; Coarse facial features; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait disturbance; Global brain atrophy; Global developmental delay; Hirsutism; Hyperreflexia; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Muscular hypotonia; Seizures; Short foot; Short palm; Short stature; Skeletal muscle atrophy; Small hand; Strabismus; Thoracic kyphosis; Thoracic scoliosis; Tremor; Truncal ataxia
YME1L110p12.199.61%gene with protein product607472Amblyopia; Autosomal recessive inheritance; Brain atrophy; Cerebellar hypoplasia; Dysmetria; Facial diplegia; Global developmental delay; Hyperactivity; Hyperkinesis; Hypermetropia; Infantile onset; Intellectual disability; Leukoencephalopathy; Macrocephaly; Macrotia; Microcephaly; Midface retrusion; Myopia; Optic atrophy; Short stature; Strabismus; Visual impairment


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


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

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