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Phenotypes
Progressive microcephaly

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACO222q13.2100%gene with protein product100850Areflexia; Ataxia; Athetosis; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral cortical atrophy; Demyelinating peripheral neuropathy; Failure to thrive; Generalized hypotonia; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability, severe; Nystagmus; Optic atrophy; Paracentral scotoma; Progressive microcephaly; Red-green dyschromatopsia; Reduced visual acuity; Retinal dystrophy; Seizures; Severe global developmental delay; Strabismus; Visual impairment
ALG1222q13.33100%gene with protein product607144Abnormality of immune system physiology; Abnormality of the genital system; Abnormality of the pinna; Cognitive impairment; Failure to thrive; Feeding difficulties; Generalized hypotonia; Hypocalcemia; Muscular hypotonia; Progressive microcephaly; Prolonged partial thromboplastin time; Respiratory tract infection; Short philtrum
AMPD21p13.3100%gene with protein product102771Abnormality of the periventricular white matter; Abnormality of the pinna; Autosomal recessive inheritance; Cerebral cortical atrophy; Clonus; Cortical visual impairment; Decreased body weight; Downslanted palpebral fissures; Facial hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Macroglossia; Microcephaly; Midface retrusion; Muscular hypotonia of the trunk; Narrow forehead; Optic atrophy; Peripheral axonal neuropathy; Progressive microcephaly; Scissor gait; Seizures; Short stature; Short upper lip; Skeletal muscle atrophy; Spastic paraplegia; Spasticity; Ventriculomegaly
ARFGEF220q13.13100%gene with protein product605371Autosomal recessive inheritance; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile onset; Intellectual disability; Intellectual disability, severe; Microcephaly; Periventricular gray matter heterotopia; Poor eye contact; Progressive microcephaly; Seizures; Tetraparesis
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
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
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
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
BRAT17p22.3100%gene with protein product614506C7orf27, BAAT1Apnea; Autosomal recessive inheritance; Babinski sign; Bradycardia; Clonus; Death in infancy; Dysautonomia; Flexion contracture; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hypertonia; Microcephaly; Multifocal seizures; Myoclonic spasms; Neuronal loss in central nervous system; Progressive microcephaly; Rigidity
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
CCDC88A2p16.199.6%gene with protein product609736KIAA1212Abnormality of the hand; Autosomal recessive inheritance; Cerebellar atrophy; Developmental stagnation; Edema; Epicanthus; Feeding difficulties in infancy; Full cheeks; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile encephalopathy; Intellectual disability, profound; Myoclonus; Narrow forehead; Neuronal loss in central nervous system; Open mouth; Optic atrophy; Pachygyria; Peripheral dysmyelination; Polymicrogyria; Progressive microcephaly; Retrognathia; Seizures; Severe muscular hypotonia; Short nose; Tented upper lip vermilion; Undetectable visual evoked potentials
CDC4522q11.21100%gene with protein product603465CDC45L2, CDC45L2-3 toe syndactyly; Abnormality of epiphysis morphology; Abnormality of the ribs; Anal atresia; Anal stenosis; Anotia; Aplasia/Hypoplasia of the patella; Aplastic clavicles; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Bowing of the legs; Camptodactyly of finger; Choanal atresia; Cleft palate; Clinodactyly of the 5th finger; Clitoral hypertrophy; Clitoral hypoplasia; Clubbing; Complete atrioventricular canal defect; Craniosynostosis; Cryptorchidism; Decreased body weight; Delayed skeletal maturation; Duodenal stenosis; Failure to thrive; Feeding difficulties; Global developmental delay; Hearing impairment; High palate; High, narrow palate; Hypoplasia of the maxilla; Hypoplastic labia majora; Hypoplastic labia minora; Hypospadias; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Low-set ears; Mandibular aplasia; Microcephaly; Micrognathia; Micropenis; Microtia; Microtia, third degree; Myopia; Narrow mouth; Patellar aplasia; Posteriorly rotated ears; Preaxial polydactyly; Progressive microcephaly; Proptosis; Pulmonary hypoplasia; Respiratory distress; Respiratory failure; Retrognathia; Sagittal craniosynostosis; Scoliosis; Severe short stature; Short stature; Slender long bone; Strabismus; Thin eyebrow; Urethral stricture; Ventricular septal defect; Vesicoureteral reflux; Wide anterior fontanel
CDKL5Xp22.1396.91%gene with protein product300203STK9Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Anteverted nares; Aplasia/Hypoplasia of the cerebellum; Broad forehead; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Developmental regression; EEG abnormality; Epileptic encephalopathy; Fine hair; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Global developmental delay; Hearing impairment; Hyperventilation; Hypsarrhythmia; Inability to walk; Infantile onset; Infantile spasms; Intellectual disability; Intellectual disability, profound; Long philtrum; Microcephaly; Multifocal seizures; Myoclonus; Nephrolithiasis; Poor eye contact; Progressive microcephaly; Prominent forehead; Scoliosis; Seizures; Short foot; Short palm; Small hand; Spasticity; Stereotypy; Tapered finger; Thick lower lip vermilion; Thick vermilion border; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance
CLP111q12.1100%gene with protein product608757Absent speech; Autosomal recessive inheritance; Cerebral cortical atrophy; Congenital onset; Cortical gyral simplification; Cryptorchidism; Delayed myelination; Encephalopathy; Esotropia; Global developmental delay; Growth delay; High palate; Highly arched eyebrow; Hyperreflexia; Hypoplasia of the corpus callosum; Long eyelashes; Long palpebral fissure; Microcephaly; Nystagmus; Poor eye contact; Progressive microcephaly; Proptosis; Short nose; Spasticity; Thin upper lip vermilion; Underdeveloped nasal alae; Ventriculomegaly; Wide nasal bridge
COG117q25.1100%gene with protein product606973LDLBAbnormal isoelectric focusing of serum transferrin; Autosomal recessive inheritance; Butterfly vertebrae; Failure to thrive in infancy; Global developmental delay; Low-set, posteriorly rotated ears; Muscular hypotonia; Osteopenia; Postnatal growth retardation; Progressive microcephaly; Rhizomelia; Smooth philtrum; Talipes equinovarus; Vertebral segmentation defect
EFTUD217q21.31100%gene with protein product603892Abnormality of the antihelix; Absent tragus; Accessory oral frenulum; Anteverted nares; Atresia of the external auditory canal; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Choanal atresia; Cleft palate; Conductive hearing impairment; Deep philtrum; Delayed speech and language development; Downslanted palpebral fissures; Epicanthus; Feeding difficulties; Feeding difficulties in infancy; Global developmental delay; Hypoplasia of the maxilla; Intellectual disability; Large earlobe; Low-set ears; Malar flattening; Mandibulofacial dysostosis; Microcephaly; Micrognathia; Microtia; Midface retrusion; Morphological abnormality of the middle ear; Overfolded helix; Postnatal microcephaly; Preauricular skin tag; Preaxial hand polydactyly; Progressive microcephaly; Respiratory distress; Short nose; Short stature; Slender finger; Telecanthus; Trigonocephaly; Underdeveloped tragus; Upslanted palpebral fissure
EXOSC39p13.2100%gene with protein product606489Abnormality of the foot; Absent speech; Autosomal recessive inheritance; Cerebellar atrophy; Cerebellar cyst; Cerebral atrophy; Congenital onset; Feeding difficulties; Flexion contracture; Generalized hypotonia; Global developmental delay; Growth delay; Hip dislocation; Hyperreflexia; Muscular hypotonia of the trunk; Nystagmus; Oculomotor apraxia; Poor head control; Progressive microcephaly; Respiratory insufficiency; Skeletal muscle atrophy; Spasticity; Strabismus; Tongue atrophy; Tongue fasciculations; Variable expressivity
FOXG114q1299.71%gene with protein product164874FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1AAbnormality of movement; Abnormality of the antihelix; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Agenesis of corpus callosum; Aplasia/Hypoplasia of the cerebellum; Apraxia; Athetosis; Autosomal dominant inheritance; Blepharophimosis; Bruxism; Bulbous nose; Camptodactyly of finger; Cerebral cortical atrophy; Chorea; Clinodactyly of the 5th finger; Constipation; Cortical gyral simplification; Delayed myelination; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Drooling; Dyskinesia; Dystonia; EEG abnormality; Epicanthus; Everted lower lip vermilion; Excessive salivation; Feeding difficulties; Fine hair; Gastroesophageal reflux; Growth delay; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Kyphosis; Long philtrum; Macroglossia; Mandibular prognathia; Microcephaly; Motor delay; Muscular hypotonia; Neonatal hypotonia; Nephrolithiasis; Pachygyria; Palpebral edema; Pes planus; Poor eye contact; Progressive microcephaly; Prominent metopic ridge; Protruding ear; Scoliosis; Seizures; Short nose; Smooth philtrum; Spasticity; Sporadic; Stereotypy; Talipes equinovarus; Tented upper lip vermilion; Thick vermilion border; Tongue thrusting; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MED1711q21100%gene with protein product603810CRSP6Autosomal recessive inheritance; Clonus; Diffuse cerebral atrophy; Dysphagia; Failure to thrive; Feeding difficulties; Global developmental delay; Hypsarrhythmia; Postnatal microcephaly; Progressive; Progressive microcephaly; Seizures; Spasticity
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
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
PNKP19q13.3399.82%gene with protein product605610Areflexia; Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Cortical gyral simplification; Dystonia; Epileptic encephalopathy; Generalized hypotonia; Hyperactivity; Hypoplasia of the corpus callosum; Intellectual disability, severe; Motor delay; Oculomotor apraxia; Peripheral neuropathy; Progressive microcephaly; Rapidly progressive; Seizures; Skeletal muscle atrophy; Tetraplegia; Ventriculomegaly
PNPO17q21.32100%gene with protein product603287Abnormality of eye movement; Anemia; Autosomal recessive inheritance; Decreased CSF homovanillic acid; Encephalopathy; Failure to thrive; Feeding difficulties in infancy; Global developmental delay; Hypertonia; Hypoglycemia; Increased serum lactate; Metabolic acidosis; Muscular hypotonia of the trunk; Myoclonus; Premature birth; Progressive microcephaly; Seizures; Unsteady gait
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)
PPT11p34.2100%gene with protein product600722PPTAbnormality of metabolism/homeostasis; Ataxia; Autosomal recessive inheritance; Blindness; Cerebral atrophy; Decreased light- and dark-adapted electroretinogram amplitude; Depressivity; EEG abnormality; Flexion contracture; Generalized hypotonia; Global developmental delay; Hallucinations; Increased neuronal autofluorescent lipopigment; Intellectual disability; Irritability; Loss of speech; Macular degeneration; Myoclonus; Onset; Optic atrophy; Postnatal microcephaly; Progressive microcephaly; Progressive visual loss; Psychomotor deterioration; Seizures; Sleep disturbance; Spasticity; Undetectable electroretinogram
PTRH217q23.1100%gene with protein product608625Ataxia; Autosomal recessive inheritance; Brachycephaly; Cerebellar atrophy; Congenital onset; Distal muscle weakness; Exotropia; Failure to thrive; Generalized hypotonia; Global developmental delay; Hepatic fibrosis; Hepatomegaly; Hip dislocation; Hypertelorism; Hypothyroidism; Intellectual disability; Microcephaly; Midface retrusion; Pancreatic fibrosis; Progressive; Progressive microcephaly; Proximal placement of thumb; Sensorineural hearing impairment; Shawl scrotum; Short stature; Steatorrhea; Talipes equinovarus; Thin upper lip vermilion
PYCR21q42.1299.31%gene with protein product616406Abnormal cortical bone morphology; Absent speech; Agenesis of corpus callosum; Anteverted nares; Arachnodactyly; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebral cortical atrophy; CNS hypomyelination; Downslanted palpebral fissures; Failure to thrive; Global developmental delay; Hearing impairment; Heterotopia; Hyperreflexia; Hypoplasia of the corpus callosum; Hypoplasia of the frontal lobes; Inability to walk; Intellectual disability, severe; Leukodystrophy; Long philtrum; Low-set ears; Malar flattening; Microcephaly; Muscular hypotonia of the trunk; Narrow forehead; Pachygyria; Progressive; Progressive microcephaly; Short nose; Short stature; Skeletal muscle atrophy; Sloping forehead; Smooth philtrum; Spasticity; Thick vermilion border; Thin upper lip vermilion; Triangular face; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
QARS3p21.3199.89%gene with protein product603727Autosomal recessive inheritance; Cerebellar vermis atrophy; Cerebral atrophy; CNS hypomyelination; Epicanthus; Generalized hypotonia; Global developmental delay; Hypoplasia of the corpus callosum; Hypotelorism; Low-set ears; Narrow forehead; Posteriorly rotated ears; Progressive; Progressive microcephaly; Sloping forehead; Status epilepticus; Ventriculomegaly
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
RNASEH2A19p13.13100%gene with protein product606034Arrhinencephaly; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral calcification; Convex nasal ridge; CSF lymphocytic pleiocytosis; Death in childhood; Dystonia; Elevated hepatic transaminases; Eyelid coloboma; Feeding difficulties; Hemiplegia/hemiparesis; Hepatomegaly; Hepatosplenomegaly; Hydrocephalus; Infantile onset; Intellectual disability, profound; Intrauterine growth retardation; Leukodystrophy; Low-set ears; Pancytopenia; Porencephalic cyst; Progressive microcephaly; Severe global developmental delay; Spasticity; Splenomegaly; Thrombocytopenia; VentriculomegalyAutoimmune Disorders
RNASEH2C11q13.1100%gene with protein product610330Arrhinencephaly; Autosomal recessive inheritance; Cerebral calcification; CSF lymphocytic pleiocytosis; Death in childhood; Delayed myelination; Dystonia; Elevated hepatic transaminases; Encephalopathy; Eyelid coloboma; Generalized hypotonia; Hemiplegia/hemiparesis; Hepatosplenomegaly; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability, profound; Nystagmus; Porencephalic cyst; Progressive; Progressive microcephaly; Severe global developmental delay; Spasticity; ThrombocytopeniaAutoimmune Disorders
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
SCN8A12q13.1399.99%gene with protein product600702MEDAbnormality of vision; Ataxia; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Choreoathetosis; Cognitive impairment; Deeply set eye; Developmental regression; Dysesthesia; Dyskinesia; Epileptic encephalopathy; Epileptic spasms; Focal seizures; Generalized hypotonia; Generalized seizures; Generalized tonic-clonic seizures; Global developmental delay; Hypertonia; Intellectual disability; Microcephaly; Migraine; Muscular hypotonia; Myoclonus; Normal interictal EEG; Paroxysmal choreoathetosis; Paroxysmal dyskinesia; Progressive microcephaly; Reduced consciousness/confusion; Seizures
SEPSECS4p15.299.93%gene with protein product613009Abnormality of the periventricular white matter; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Chorea; Clonus; Delayed myelination; Global developmental delay; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability, profound; Irritability; Limb joint contracture; Progressive microcephaly; Seizures; Sleep disturbance; Spastic tetraplegia
SLC1A42p14100%gene with protein product600229Autosomal recessive inheritance; Babinski sign; Cerebral atrophy; Congenital onset; Generalized hypotonia; Global developmental delay; Hyperactivity; Hyperreflexia; Hypoplasia of the corpus callosum; Inability to walk; Intellectual disability; Irritability; Progressive microcephaly; Spastic tetraplegia
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
SLC25A2211p15.5100%gene with protein product609302Abnormality of visual evoked potentials; Autosomal recessive inheritance; Cerebral atrophy; Death in childhood; Delayed myelination; Dysphagia; Epileptic encephalopathy; Eyelid myoclonias; Focal tonic seizures; Generalized myoclonic seizures; Global developmental delay; Hyperreflexia; Infantile spasms; Lethargy; Muscular hypotonia; Myoclonus; Neonatal hypotonia; Poor suck; Progressive microcephaly; Recurrent respiratory infections; Spasticity
SLC2A11p34.2100%gene with protein product138140GLUT1, GLUT, HTLVR, CSEAbnormal erythrocyte morphology; Absence seizures; Absent speech; Ataxia; Autosomal dominant inheritance; Cataract; Choreoathetosis; Confusion; Cyanosis; Delayed myelination; Delayed speech and language development; Dysarthria; Dystonia; EEG abnormality; Encephalopathy; Extrapyramidal dyskinesia; Generalized hyperreflexia; Global developmental delay; Headache; Hemiparesis; Hemolytic anemia; Hepatomegaly; Hyperactive deep tendon reflexes; Hyperreflexia; Hypoglycorrhachia; Inability to walk; Infantile onset; Intellectual disability; Jaundice; Lethargy; Microcephaly; Muscle stiffness; Nystagmus; Paralysis; Paresthesia; Paroxysmal dyskinesia; Paroxysmal involuntary eye movements; Progressive microcephaly; Seizures; Short stature; Spasticity; Splenomegaly; Status epilepticus; Torsion dystoniaHemolytic Anemia
SNAP2922q11.21100%gene with protein product604202Abnormality of eye movement; Abnormality of peripheral nerve conduction; Abnormality of the corpus callosum; Areflexia; Ataxia; Autosomal recessive inheritance; Cortical dysplasia; Depressed nasal bridge; Diffuse palmoplantar keratoderma; Downslanted palpebral fissures; Failure to thrive; Global developmental delay; Hypertelorism; Ichthyosis; Infantile onset; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Long face; Microcephaly; Muscular hypotonia; Optic atrophy; Optic disc hypoplasia; Pachygyria; Palmoplantar keratoderma; Peripheral neuropathy; Polymicrogyria; Polyneuropathy; Poor head control; Progressive microcephaly; Prominent nasal bridge; Sensorineural hearing impairment; Wide nasal bridgePalmoplantar keratoderma plus congenital ichthyosis
SPTAN19q34.11100%gene with protein product182810Abnormality of skin morphology; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Cerebellar atrophy; Cerebral atrophy; CNS hypomyelination; Developmental regression; Epileptic encephalopathy; Generalized hypotonia; Hyperreflexia; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile onset; Infantile spasms; Intellectual disability, profound; Intellectual disability, severe; Myoclonus; Progressive microcephaly; Seizures; Spastic tetraplegia; Variable expressivity
STAMBP2p13.1100%gene with protein product606247Abnormal hair whorl; Autosomal recessive inheritance; Brachydactyly; Cerebral atrophy; Cleft palate; Clinodactyly; Congenital onset; Delayed myelination; Failure to thrive; Generalized hypotonia; Hearing impairment; Hypertelorism; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Low-set ears; Myoclonus; Optic atrophy; Patent foramen ovale; Progressive microcephaly; Ptosis; Right ventricular hypertrophy; Seizures; Severe global developmental delay; Short distal phalanx of finger; Short nose; Sloping forehead; Small for gestational age; Small nail; Spastic tetraparesis; Ventricular septal defect; Wide nose
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
TREX13p21.31100%gene with protein product606609AGS1Abnormality of extrapyramidal motor function; Abnormality of the periventricular white matter; Abnormality of the retinal vasculature; Acrocyanosis; Adult onset; Apraxia; Arrhinencephaly; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia calcification; Behavioral abnormality; Central nervous system degeneration; Cerebral atrophy; Chilblain lesions; Chronic CSF lymphocytosis; Deep white matter hypodensities; Dementia; Dysarthria; Dystonia; Elevated erythrocyte sedimentation rate; Elevated hepatic transaminases; Eyelid coloboma; Feeding difficulties in infancy; Fever; Focal white matter lesions; Global developmental delay; Hematuria; Hemiparesis; Hemiplegia/hemiparesis; Hepatosplenomegaly; Increased CSF interferon alpha; Intellectual disability, profound; Juvenile onset; Leukodystrophy; Leukoencephalopathy; Limb pain; Lower limb hyperreflexia; Macular edema; Mental deterioration; Migraine; Morphological abnormality of the pyramidal tract; Multiple gastric polyps; Muscular hypotonia of the trunk; Nystagmus; Petechiae; Poor head control; Porencephalic cyst; Progressive; Progressive encephalopathy; Progressive forgetfulness; Progressive microcephaly; Progressive visual loss; Prolonged neonatal jaundice; Proteinuria; Punctate vasculitis skin lesions; Raynaud phenomenon; Retinal exudate; Retinal hemorrhage; Retinopathy; Seizures; Skin ulcer; Spasticity; Strabismus; Stroke; Telangiectasia; Thrombocytopenia; Vasculitis in the skin; Visual impairmentAutoimmune Disorders
TSEN151q25.3100%gene with protein product608756C1orf19Autosomal recessive inheritance; Congenital onset; Generalized hypotonia; Intellectual disability; Progressive microcephaly; Variable expressivity
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
VPS5317p13.3100%gene with protein product615850Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Flexion contracture; Global developmental delay; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intellectual disability, profound; Irritability; Microcephaly; Neonatal hypotonia; Opisthotonus; Osteoporosis; Progressive; Progressive microcephaly; Scoliosis; Seizures; Short stature; Spastic tetraplegia
WWOX16q23.1-q23.100%gene with protein product605131Abnormal sex determination; Abnormality of the labia; Abnormality of the scrotum; Abnormality of the voice; Ambiguous genitalia; Autosomal recessive inheritance; Azoospermia; Cerebellar atrophy; Chest pain; Clinodactyly of the 5th toe; Clitoral hypertrophy; Cough; Cryptorchidism; Decreased fertility in females; Decreased serum estradiol; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Dysarthria; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Epileptic encephalopathy; Esophageal carcinoma; Feeding difficulties in infancy; Female external genitalia in individual with 46,XY karyotype; Gait ataxia; Gaze-evoked nystagmus; Global developmental delay; Gonadal dysgenesis; Gynecomastia; Hypergonadotropic hypogonadism; Hyperreflexia; Hypokinesia; Hypoplasia of the vagina; Hyporeflexia; Hypospadias; Intellectual disability; Limb ataxia; Male infertility; Microcephaly; Micropenis; Muscular hypotonia of the trunk; Nausea and vomiting; Osteoporosis; Primary amenorrhea; Progressive microcephaly; Rigidity; Seizures; Sparse axillary hair; Sparse pubic hair; Spasticity; Streak ovary; Urogenital sinus anomaly; Vanishing testis; Variable expressivityDisorders of Sex Development
ZNHIT317q12100%gene with protein product604500TRIP3Abnormality of eye movement; Abnormality of movement; Abnormality of the hand; Abnormality of the palate; Abnormality of upper lip; Anteverted nares; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Biparietal narrowing; Cerebellar atrophy; Cerebral cortical atrophy; Developmental stagnation; Drowsiness; Edema; Edema of the lower limbs; Epicanthus; External ear malformation; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gingival overgrowth; Global developmental delay; Hydrocephalus; Hyperreflexia; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile encephalopathy; Infantile spasms; Intellectual disability, profound; Intellectual disability, severe; Limitation of joint mobility; Macrotia; Malar flattening; Microcephaly; Midface retrusion; Myoclonus; Narrow forehead; Neuronal loss in central nervous system; Open mouth; Optic atrophy; Pachygyria; Palpebral edema; Peripheral dysmyelination; Peripheral edema; Polymicrogyria; Porencephalic cyst; Progressive microcephaly; Recurrent respiratory infections; Retrognathia; Seizures; Severe muscular hypotonia; Short nose; Tapered finger; Tented upper lip vermilion; Undetectable visual evoked potentials; Ventriculomegaly; Visual loss


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