XomeDxSlice Tool

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Phenotypes
Spastic tetraplegia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ADD310q25.1-q25.100%gene with protein product601568ADDLAbnormal pyramidal signs; Autosomal recessive inheritance; Cognitive impairment; Dysphagia; Exotropia; Global developmental delay; Infantile onset; Microcephaly; Nystagmus; Poor speech; Spastic diplegia; Spastic tetraplegia; Supranuclear gaze palsy; Variable expressivity
ALS22q33.1100%gene with protein product606352ALS2CR6Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of eye movement; Abnormality of the corticospinal tract; Abnormality of the eye; Abnormality of the face; Achilles tendon contracture; Amyotrophic lateral sclerosis; Anarthria; Autosomal recessive inheritance; Babinski sign; Cerebral cortical atrophy; Chewing difficulties; Childhood onset; Decreased muscle mass; Difficulty in tongue movements; Distal amyotrophy; Drooling; Dysarthria; Dysphagia; EMG abnormality; EMG: chronic denervation signs; Gait disturbance; Gait imbalance; Hand muscle atrophy; Hyperreflexia; Infantile onset; Juvenile onset; Loss of speech; Lower limb spasticity; Motor delay; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Saccadic smooth pursuit; Scoliosis; Slow progression; Slow saccadic eye movements; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Spastic tetraplegia; Spasticity; Spasticity of facial muscles; Spasticity of pharyngeal muscles; Tetraplegia; Upper limb spasticity; Urinary incontinence
ALS22q33.1100%gene with protein product606352ALS2CR6Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of eye movement; Abnormality of the corticospinal tract; Abnormality of the eye; Abnormality of the face; Achilles tendon contracture; Amyotrophic lateral sclerosis; Anarthria; Autosomal recessive inheritance; Babinski sign; Cerebral cortical atrophy; Chewing difficulties; Childhood onset; Decreased muscle mass; Difficulty in tongue movements; Distal amyotrophy; Drooling; Dysarthria; Dysphagia; EMG abnormality; EMG: chronic denervation signs; Gait disturbance; Gait imbalance; Hand muscle atrophy; Hyperreflexia; Infantile onset; Juvenile onset; Loss of speech; Lower limb spasticity; Motor delay; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Saccadic smooth pursuit; Scoliosis; Slow progression; Slow saccadic eye movements; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Spastic tetraplegia; Spasticity; Spasticity of facial muscles; Spasticity of pharyngeal muscles; Tetraplegia; Upper limb spasticity; Urinary incontinence
ANKLE212q24.33100%gene with protein product616062KIAA0692Abnormal cortical bone morphology; Adducted thumb; Agenesis of corpus callosum; Autosomal recessive inheritance; Cortical gyral simplification; Cryptorchidism; Decreased body weight; Glaucoma; Global developmental delay; Heterotopia; Hyperreflexia; Hypoplasia of the frontal lobes; Intellectual disability, severe; Knee flexion contracture; Microcephaly; Micrognathia; Open mouth; Pachygyria; Ptosis; Seizures; Short stature; Sloping forehead; Spastic tetraplegia; Telecanthus; Thin upper lip vermilion; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Vesicoureteral reflux
AP4E115q21.2100%gene with protein product607244Abnormality of the voice; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Congenital onset; Decreased muscle mass; Downslanted palpebral fissures; Drooling; Facial hypotonia; Flexion contracture; Global developmental delay; Hyperreflexia; Intellectual disability, severe; Long nose; Microcephaly; Narrow face; Narrow forehead; Neonatal hypotonia; Nystagmus; Pointed chin; Prominent antihelix; Seizures; Short philtrum; Short stature; Spastic paraplegia; Spastic tetraplegia; Talipes equinovarus; Ventriculomegaly; Wide mouth; Wide nasal bridge
AP4M17q22.199.99%gene with protein product602296Adducted thumb; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebellar atrophy; Cerebral palsy; Coarse facial features; Congenital onset; Drooling; Gliosis; Global developmental delay; High palate; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability, progressive; Intellectual disability, severe; Mandibular prognathia; Microcephaly; Narrow forehead; Neonatal hypotonia; Pseudobulbar signs; Seizures; Short philtrum; Spastic paraplegia; Spastic tetraplegia; Strabismus; Talipes equinovarus; Ventriculomegaly; Wide mouth; Wide nasal ridge
ARSA22q13.33100%gene with protein product607574Abnormality of the cerebral white matter; Ataxia; Autosomal recessive inheritance; Babinski sign; Bulbar palsy; Cholecystitis; Chorea; Decreased nerve conduction velocity; Delusions; Dysarthria; Dystonia; EMG: neuropathic changes; Emotional lability; Gait disturbance; Gallbladder dysfunction; Generalized hypotonia; Hallucinations; Hyperreflexia; Hyporeflexia; Increased CSF protein; Intellectual disability; Loss of speech; Mental deterioration; Optic atrophy; Peripheral demyelination; Progressive peripheral neuropathy; Seizures; Spastic tetraplegia; Tetraplegia; Urinary incontinence
ARXXp21.399.72%gene with protein product300382MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87Abnormal hair pattern; Abnormality of skin morphology; Abnormality of the hip bone; Abnormally large globe; Agenesis of corpus callosum; Ambiguous genitalia; Broad alveolar ridges; Choreoathetosis; Coarse facial features; Cryptorchidism; Death in infancy; Decreased testicular size; Delayed speech and language development; Developmental regression; Diarrhea; Duane anomaly; Dysarthria; Dysphagia; Dyspnea; Dystonia; EEG abnormality; Epileptic encephalopathy; Feeding difficulties in infancy; Flexion contracture; Focal dystonia; Generalized hirsutism; Generalized hypotonia; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hemiplegia; High forehead; High palate; Hirsutism; Hyperconvex nail; Hyperreflexia; Hypohidrosis; Hypoplasia of penis; Hypospadias; Hypsarrhythmia; Infantile spasms; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb dystonia; Limb joint contracture; Lissencephaly; Long philtrum; Long upper lip; Low anterior hairline; Low-set ears; Lower limb spasticity; Malabsorption; Microcephaly; Micrognathia; Micropenis; Muscle stiffness; Muscular hypotonia; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nystagmus; Optic atrophy; Overlapping toe; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Prominent supraorbital ridges; Protruding ear; Renal dysplasia; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short stature; Spastic tetraplegia; Spasticity; Specific learning disability; Status epilepticus; Strabismus; Synophrys; Tapered finger; Tetraplegia; Thin upper lip vermilion; Triangular face; Ventriculomegaly; Visual impairment; Wide anterior fontanel; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
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
ATP13A21p36.13100%gene with protein product610513PARK9Aggressive behavior; Akinesia; Anarthria; Anosmia; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Dementia; Distal sensory impairment; Dysarthria; Gait disturbance; Hallucinations; Hyperreflexia; Hypokinesia; Hyposmia; Mask-like facies; Myoclonus; Nystagmus; Paraparesis; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Postural instability; Psychotic episodes; Rapidly progressive; Rigidity; Slow saccadic eye movements; Spastic paraplegia; Spastic tetraplegia; Supranuclear gaze palsy; Torticollis; Tremor
AUH9q22.31100%gene with protein product6005293-Methylglutaconic aciduria; Ataxia; Athetosis; Autosomal recessive inheritance; Cerebral atrophy; Cognitive impairment; Delayed speech and language development; Dysarthria; Dystonia; Failure to thrive; Febrile seizures; Global developmental delay; Hyperreflexia; Infantile onset; Leukoencephalopathy; Metabolic acidosis; Motor delay; Optic atrophy; Phenotypic variability; Short attention span; Spastic tetraplegia; Urinary incontinence
BCL11B14q32.299.98%gene with protein product606558ZNF856BAbsent speech; Autosomal dominant inheritance; Congenital onset; Generalized hypotonia; Global developmental delay; Hirsutism; Hypertelorism; Inflammatory abnormality of the skin; Intellectual disability; Micrognathia; Natal tooth; Pulmonary artery stenosis; Seizures; Severe combined immunodeficiency; Short palpebral fissure; Spastic tetraplegia; Umbilical hernia; Wormian bones
COASY17q21.2100%gene with protein product609855Abnormality of thalamus morphology; Abnormality of the caudate nucleus; Autosomal recessive inheritance; Bradykinesia; Cognitive impairment; Depressivity; Developmental regression; Difficulty walking; Distal amyotrophy; Dysarthria; Eye of the tiger anomaly of globus pallidus; Hyporeflexia; Mental deterioration; Motor axonal neuropathy; Neurodegeneration; Obsessive-compulsive behavior; Oromandibular dystonia; Parkinsonism; Peripheral axonal neuropathy; Progressive; Rigidity; Spastic paraparesis; Spastic tetraplegia; Toe walking
COG21q42.299.94%gene with protein product606974LDLCAutosomal recessive inheritance; Decreased liver function; Decreased serum ceruloplasmin; Diffuse cerebral atrophy; Elevated hepatic transaminases; Generalized tonic seizures; Global developmental delay; Hepatosplenomegaly; Hypocupremia; Hypoplasia of the corpus callosum; Infantile onset; Postnatal microcephaly; Seizures; Small pituitary gland; Spastic tetraplegia
COG21q42.299.94%gene with protein product606974LDLCAutosomal recessive inheritance; Decreased liver function; Decreased serum ceruloplasmin; Diffuse cerebral atrophy; Elevated hepatic transaminases; Generalized tonic seizures; Global developmental delay; Hepatosplenomegaly; Hypocupremia; Hypoplasia of the corpus callosum; Infantile onset; Postnatal microcephaly; Seizures; Small pituitary gland; Spastic tetraplegia
FUCA11p36.11100%gene with protein product612280Abnormality of the abdominal wall; Abnormality of the gallbladder; Absent/hypoplastic coccyx; Absent/hypoplastic paranasal sinuses; Angiokeratoma; Anhidrosis; Anterior beaking of lumbar vertebrae; Anterior beaking of thoracic vertebrae; Autosomal recessive inheritance; Barrel-shaped chest; Brachycephaly; Cardiomegaly; Cerebral atrophy; Cervical platyspondyly; Coarse facial features; Corneal opacity; Coxa valga; Decreased muscle mass; Dry skin; Dysostosis multiplex; Elevated sweat chloride; Failure to thrive; Flexion contracture; Frontal bossing; Generalized hyperkeratosis; Global developmental delay; Hearing impairment; Hepatomegaly; Hernia; Hyperhidrosis; Hypertelorism; Hypothyroidism; Intellectual disability; Intellectual disability, severe; Kyphosis; Lipoatrophy; Lumbar hyperlordosis; Macroglossia; Mucopolysacchariduria; Muscular hypotonia; Oligosacchariduria; Polyneuropathy; Prominent forehead; Recurrent respiratory infections; Scoliosis; Seizures; Shield chest; Short stature; Spastic tetraplegia; Splenomegaly; Thick eyebrow; Thick lower lip vermilion; Tortuosity of conjunctival vessels; Vacuolated lymphocytes; Vascular skin abnormality; Wide nose
FUCA11p36.11100%gene with protein product612280Abnormality of the abdominal wall; Abnormality of the gallbladder; Absent/hypoplastic coccyx; Absent/hypoplastic paranasal sinuses; Angiokeratoma; Anhidrosis; Anterior beaking of lumbar vertebrae; Anterior beaking of thoracic vertebrae; Autosomal recessive inheritance; Barrel-shaped chest; Brachycephaly; Cardiomegaly; Cerebral atrophy; Cervical platyspondyly; Coarse facial features; Corneal opacity; Coxa valga; Decreased muscle mass; Dry skin; Dysostosis multiplex; Elevated sweat chloride; Failure to thrive; Flexion contracture; Frontal bossing; Generalized hyperkeratosis; Global developmental delay; Hearing impairment; Hepatomegaly; Hernia; Hyperhidrosis; Hypertelorism; Hypothyroidism; Intellectual disability; Intellectual disability, severe; Kyphosis; Lipoatrophy; Lumbar hyperlordosis; Macroglossia; Mucopolysacchariduria; Muscular hypotonia; Oligosacchariduria; Polyneuropathy; Prominent forehead; Recurrent respiratory infections; Scoliosis; Seizures; Shield chest; Short stature; Spastic tetraplegia; Splenomegaly; Thick eyebrow; Thick lower lip vermilion; Tortuosity of conjunctival vessels; Vacuolated lymphocytes; Vascular skin abnormality; Wide nose
GAD12q31.1100%gene with protein product605363GADAutosomal recessive inheritance; Babinski sign; Cerebral palsy; Flexion contracture; Global developmental delay; Heterogeneous; Hyperreflexia; Infantile onset; Intellectual disability; Microcephaly; Scoliosis; Seizures; Spastic diplegia; Spastic tetraplegia
GLB13p22.3100%gene with protein product611458ELNR1Abnormal heart valve morphology; Abnormality of blood and blood-forming tissues; Abnormality of the face; Abnormality of the liver; Abnormality of the spleen; Abnormality of the urinary system; Angiokeratoma corporis diffusum; Anterior beaking of lumbar vertebrae; Aortic valve stenosis; Ataxia; Autosomal recessive inheritance; Beaking of vertebral bodies; Carious teeth; Cerebral atrophy; Cerebral degeneration; Cervical myelopathy; Cervical subluxation; Cherry red spot of the macula; Coarse facial features; Congestive heart failure; Constricted iliac wings; Coxa valga; Death in infancy; Decreased beta-galactosidase activity; Depressed nasal ridge; Developmental stagnation; Diffuse cerebral atrophy; Dilated cardiomyopathy; Disproportionate short-trunk short stature; Dystonia; Epiphyseal deformities of tubular bones; Flared iliac wings; Flaring of rib cage; Foam cells; Frontal bossing; Gait disturbance; Generalized myoclonic seizures; Genu valgum; Gingival overgrowth; Grayish enamel; Hearing impairment; Hepatomegaly; Hyperlordosis; Hypertelorism; Hypertrichosis; Hypertrophic cardiomyopathy; Hypoplasia of the odontoid process; Hypoplastic acetabulae; Hypoplastic vertebral bodies; Inguinal hernia; Intellectual disability; Intellectual disability, mild; Intimal thickening in the coronary arteries; Joint laxity; Joint stiffness; Juvenile onset; Keratan sulfate excretion in urine; Kyphosis; Mandibular prognathia; Metaphyseal widening; Opacification of the corneal stroma; Optic atrophy; Osteoporosis; Ovoid vertebral bodies; Platyspondyly; Pointed proximal second through fifth metacarpals; Progressive psychomotor deterioration; Prominent sternum; Recurrent upper respiratory tract infections; Restrictive ventilatory defect; Scoliosis; Sea-blue histiocytosis; Severe short stature; Short neck; Short stature; Skeletal muscle atrophy; Slurred speech; Spastic tetraplegia; Splenomegaly; Thickened ribs; Ulnar deviation of the wrist; Vacuolated lymphocytes; Ventriculomegaly; Wide mouth; Widely spaced teeth
GLYCTK3p21.2100%gene with protein product610516Aminoaciduria; Autosomal recessive inheritance; Cerebral cortical atrophy; Delayed myelination; Encephalopathy; Failure to thrive; Global developmental delay; Growth delay; Hyperreflexia; Hypsarrhythmia; Intellectual disability; Metabolic acidosis; Microcephaly; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nonketotic hyperglycinemia; Opisthotonus; Phenotypic variability; Seizures; Spastic tetraplegia
HSD17B10Xp11.22100%gene with protein product300256HADH2, MRXS10Abnormality of movement; Aggressive behavior; Agitation; Arachnodactyly; Behavioral abnormality; Broad-based gait; Cerebral cortical atrophy; Choreoathetosis; Delayed speech and language development; Developmental regression; Dysarthria; Generalized hypotonia; Global developmental delay; Hallucinations; Hyperreflexia; Hypertrophic cardiomyopathy; Hypoglycemia; Infantile axial hypotonia; Infantile onset; Intellectual disability; Lactic acidosis; Lumbar hyperlordosis; Metabolic acidosis; Motor delay; Nystagmus; Optic atrophy; Phenotypic variability; Progressive neurologic deterioration; Psychosis; Retinal degeneration; Seizures; Sensorineural hearing impairment; Spastic tetraplegia; Spasticity; Visual loss; X-linked dominant inheritance; X-linked recessive inheritance
KANK19p24.3100%gene with protein product607704ANKRD15Autosomal dominant inheritance with maternal imprinting; Cerebral atrophy; Cerebral palsy; Intellectual disability; Muscular hypotonia; Spastic tetraplegia; VentriculomegalyNephrotic Syndrome
KIF2A5q12.199.89%gene with protein product602591KIF2Autosomal dominant inheritance; Cortical dysplasia; Global developmental delay; Hypoplasia of the corpus callosum; Lissencephaly; Microcephaly; Pachygyria; Seizures; Spastic tetraplegia
KIF5C2q23.1-q23.210.14%gene with protein product604593Absent speech; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Congenital onset; Cortical dysplasia; Fetal akinesia sequence; Global developmental delay; Hypoplasia of the corpus callosum; Intrauterine growth retardation; Microcephaly; Polymicrogyria; Seizures; Spastic tetraplegia; Variable expressivity
LIAS4p1499.99%gene with protein product607031Apnea; Autosomal recessive inheritance; Encephalopathy; Feeding difficulties; Flexion contracture; Generalized hypotonia; Growth delay; Hypertrophic cardiomyopathy; Increased serum lactate; Lactic acidosis; Microcephaly; Motor delay; Myoclonus; Profound global developmental delay; Respiratory insufficiency; Seizures; Severe global developmental delay; Sleep disturbance; Spastic tetraplegia
MCOLN119p13.2100%gene with protein product605248Abnormality of abdomen morphology; Abnormality of ganglioside metabolism; Abnormality of mucopolysaccharide metabolism; Absent speech; Aplasia/Hypoplasia of the abdominal wall musculature; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral dysmyelination; Corneal opacity; Decreased light- and dark-adapted electroretinogram amplitude; Developmental stagnation; Dysplastic corpus callosum; Dystonia; EEG abnormality; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperreflexia; Infantile onset; Intellectual disability; Microcephaly; Muscular hypotonia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Photophobia; Progressive retinal degeneration; Retinopathy; Spastic tetraplegia; Strabismus
MOCS16p21.2100%gene with protein product603707Absent urinary urothione; Aldehyde oxidase deficiency; Autosomal recessive inheritance; Axonal loss; Cerebral atrophy; Decreased urinary sulfate; Decreased urinary urate; Ectopia lentis; Feeding difficulties in infancy; Frontal bossing; Full cheeks; Gliosis; Growth delay; Hypertelorism; Hypoplasia of the corpus callosum; Hypouricemia; Increased urinary hypoxanthine; Increased urinary sulfite; Increased urinary taurine; Increased urinary thiosulfate; Intellectual disability; Long face; Long philtrum; Macrocephaly; Microcephaly; Molybdenum cofactor deficiency; Myoclonic spasms; Nystagmus; Opisthotonus; Peripheral demyelination; Progressive; Reduced xanthine dehydrogenase activity; Seizures; Short nose; Spastic tetraparesis; Spastic tetraplegia; Sulfite oxidase deficiency; Thick vermilion border; Ventriculomegaly; Xanthine nephrolithiasis; Xanthinuria
MOCS25q11.2100%gene with protein product603708Autosomal recessive inheritance; Axonal loss; Cerebral atrophy; Ectopia lentis; Feeding difficulties; Frontal bossing; Full cheeks; Gliosis; Growth delay; Hypertelorism; Hypoplasia of the corpus callosum; Hypouricemia; Increased urinary hypoxanthine; Increased urinary taurine; Long face; Long philtrum; Macrocephaly; Microcephaly; Molybdenum cofactor deficiency; Myoclonic spasms; Nystagmus; Opisthotonus; Peripheral demyelination; Progressive; Short nose; Spastic tetraplegia; Thick vermilion border; Ventriculomegaly; Xanthine nephrolithiasis; Xanthinuria
MRPS223q23100%gene with protein product605810Abnormality of the amniotic fluid; Abnormality of the renal tubule; Antenatal onset; Ascites; Autosomal recessive inheritance; Congenital onset; Death in infancy; Delayed myelination; Edema; Generalized hypotonia; Growth delay; Hypertrophic cardiomyopathy; Hypoplasia of the corpus callosum; Increased serum lactate; Leukoencephalopathy; Low-set ears; Metabolic acidosis; Microcephaly; Muscular hypotonia of the trunk; Posteriorly rotated ears; Redundant neck skin; Retrognathia; Seizures; Spastic tetraplegia
NALCN13q32.3-q33.100%gene with protein product611549VGCNL1Abnormal pyramidal signs; Abnormality of the dentition; Abnormality of the hip bone; Adducted thumb; Aplasia/Hypoplasia of the radius; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Brachycephaly; Camptodactyly; Camptodactyly of finger; Congenital contracture; Congenital onset; Constipation; Cryptorchidism; Decreased motor nerve conduction velocity; Deeply set eye; Delayed speech and language development; Depressed nasal ridge; Dimple chin; Downslanted palpebral fissures; Elbow flexion contracture; Enlarged naris; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hearing impairment; High palate; Hip contracture; Hyperreflexia; Hypertelorism; Inguinal hernia; Joint stiffness; Knee flexion contracture; Long philtrum; Low-set ears; Macrotia; Malignant hyperthermia; Microcephaly; Micrognathia; Muscular hypotonia of the trunk; Narrow face; Narrow mouth; Nasal speech; Neurological speech impairment; Nystagmus; Optic atrophy; Overlapping fingers; Pectus carinatum; Poor eye contact; Postnatal growth retardation; Prenatal movement abnormality; Progressive; Prominent forehead; Protruding ear; Ptosis; Pursed lips; Respiratory insufficiency; Round ear; Scoliosis; Seizures; Short columella; Short neck; Short nose; Short stature; Skeletal muscle atrophy; Slender nose; Smooth philtrum; Spastic tetraplegia; Strabismus; Talipes; Talipes equinovarus; Tarsal synostosis; Thin upper lip vermilion; Triangular face; Ulnar deviation of finger; Ulnar deviation of the wrist; Umbilical hernia; Underdeveloped nasal alae; Vertebral segmentation defect; Webbed neck; Wide mouth; Wide nasal bridge
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
OTUD6B8q21.399.96%gene with protein product612021Autistic behavior; Autosomal recessive inheritance; Brachycephaly; Broad thumb; Cryptorchidism; Downslanted palpebral fissures; Failure to thrive; Feeding difficulties; Flat occiput; Flexion contracture; Generalized hypotonia; Global developmental delay; Hearing impairment; High palate; Highly arched eyebrow; Hypoplasia of the corpus callosum; Inability to walk; Intellectual disability, severe; Intrauterine growth retardation; Long eyelashes; Long face; Long palpebral fissure; Long philtrum; Low-set ears; Macrotia; Microcephaly; Overlapping toe; Phenotypic variability; Prominent nasal bridge; Protruding ear; Retrognathia; Sacral dimple; Scoliosis; Short neck; Short stature; Spastic tetraplegia; Talipes equinovarus; Tapered finger; Thin upper lip vermilion; Ventriculomegaly; Wide nasal bridge
PDHX11p1399.92%gene with protein product608769Abnormality of eye movement; Ataxia; Autosomal recessive inheritance; Congenital onset; Decreased activity of the pyruvate dehydrogenase complex; Dystonia; Epicanthus; Global developmental delay; High palate; Hyperalaninemia; Hypertelorism; Increased serum pyruvate; Intellectual disability; Lactic acidosis; Metabolic acidosis; Microcephaly; Neonatal hypotonia; Optic atrophy; Partial agenesis of the corpus callosum; Pectus excavatum; Poor fine motor coordination; Poor gross motor coordination; Seizures; Spastic paraplegia; Spastic tetraplegia; Subependymal cysts; Trigonocephaly; Unsteady gait; Variable expressivity
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
PLA2G622q13.1100%gene with protein product603604Abnormal pyramidal signs; Abnormality of metabolism/homeostasis; Abnormality of visual evoked potentials; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cachexia; Cerebellar atrophy; Cerebral atrophy; Childhood onset; Chorea; Clumsiness; Delayed speech and language development; Depressivity; Developmental regression; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG: chronic denervation signs; Emotional lability; Feeding difficulties; Frontal bossing; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized hypotonia; Generalized muscle weakness; Gliosis; Global brain atrophy; Global developmental delay; Hearing impairment; Hyperactivity; Hyperreflexia; Impaired smooth pursuit; Impulsivity; Infantile onset; Intellectual disability; Intention tremor; Mental deterioration; Micrognathia; Morphological abnormality of the pyramidal tract; Muscular hypotonia; Neurodegeneration; Neurofibrillary tangles; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Parkinsonism; Personality changes; Phenotypic variability; Postural instability; Progressive; Prominent forehead; Rapidly progressive; Rigidity; Seizures; Short attention span; Short nose; Spastic tetraplegia; Spasticity; Strabismus; Supranuclear gaze palsy; Talipes calcaneovalgus; Tremor; Unsteady gait; Visual impairment; Visual loss
PRDM84q21.21100%gene with protein product616639Autosomal recessive inheritance; Dementia; Dysarthria; Generalized myoclonic seizures; Hallucinations; Hyperreflexia; Lafora bodies; Mutism; Myoclonus; Paranoia; Progressive; Progressive cerebellar ataxia; Psychosis; Spastic ataxia; Spastic tetraplegia; Urinary incontinence; Variable expressivity
RAB1810p12.199.53%gene with protein product602207Abnormality of retinal pigmentation; Abnormality of visual evoked potentials; Ankle clonus; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Blepharophimosis; Brachycephaly; Cataract; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Decreased testicular size; Delayed puberty; Downturned corners of mouth; Flexion contracture; Generalized hirsutism; Global developmental delay; High palate; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Intellectual disability, profound; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphoscoliosis; Kyphosis; Lissencephaly; Low anterior hairline; Low-set, posteriorly rotated ears; Macrotia; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Muscular hypotonia of the trunk; Narrow palate; Nystagmus; Optic atrophy; Pachygyria; Polymicrogyria; Postnatal growth retardation; Postnatal microcephaly; Scoliosis; Scrotal hypoplasia; Seizures; Shallow anterior chamber; Short nose; Short philtrum; Short stature; Spastic tetraplegia; Spasticity; Ventriculomegaly; Wide nasal bridge
SCN2A2q24.399.9%gene with protein product182390SCN2A1, SCN2A2Abnormality of skin morphology; Abnormality of vision; Ataxia; Autosomal dominant inheritance; Choreoathetosis; Cutaneous photosensitivity; Cyanosis; Deeply set eye; Developmental regression; Dialeptic seizures; Dysesthesia; Dyskinesia; EEG abnormality; Epileptic encephalopathy; Febrile seizures; Focal clonic seizures; Focal seizures; Focal seizures, afebril; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Generalized tonic-clonic seizures with focal onset; Global developmental delay; Hypertonia; Hypsarrhythmia; Infantile onset; Infantile spasms; Muscular hypotonia; Myoclonus; Neurodevelopmental delay; Normal interictal EEG; Obtundation status; Pschomotor retardation; Reduced consciousness/confusion; Seizures; Spastic tetraplegia; Status epilepticus; Tremor; Variable expressivity
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
SIX614q23.1100%gene with protein product606326OPTX2Agenesis of corpus callosum; Anophthalmia; Anterior pituitary hypoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Butterfly vertebrae; Cataract; Coloboma; Cryptorchidism; Esophageal atresia; Frontal bossing; Generalized hypotonia; Global developmental delay; Hemivertebrae; Horizontal nystagmus; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Hypospadias; Hypothalamic hamartoma; Microcephaly; Micropenis; Microphthalmia; Miosis; Missing ribs; Optic nerve hypoplasia; Patent ductus arteriosus; Postnatal growth retardation; Retinal dystrophy; Rib fusion; Sensorineural hearing impairment; Short stature; Spastic diplegia; Spastic tetraplegia; Specific learning disability; Supernumerary ribs; Ventricular septal defect; Vertebral fusion; Vertebral hypoplasia
SLC16A2Xq13.299.93%gene with protein product300095DXS128, AHDS, MRX22Abnormal conjugate eye movement; Abnormality of the neck; Absent speech; Aphasia; Ataxia; Athetosis; Babinski sign; Bilateral single transverse palmar creases; Biparietal narrowing; Bowel incontinence; Clonus; Congenital onset; Delayed CNS myelination; Drooling; Dysarthria; Feeding difficulties in infancy; Flexion contracture; Generalized amyotrophy; Hallux valgus; Hyperreflexia; Hypoplasia of the musculature; Hypoplasia of the zygomatic bone; Hypothyroidism; Inability to walk; Increased thyroid-stimulating hormone level; Intellectual disability, progressive; Intellectual disability, severe; Irritability; Joint stiffness; Leukodystrophy; Macrotia; Microcephaly; Narrow face; Narrow forehead; Neonatal hypotonia; Open mouth; Pectus excavatum; Pes planus; Prominent antihelix; Scoliosis; Severe global developmental delay; Skeletal muscle atrophy; Spastic paraplegia; Spastic tetraplegia; Stahl ear; Underfolded superior helices; Upslanted palpebral fissure; Urinary incontinence; X-linked dominant inheritance
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
SOX1022q13.199.98%gene with protein product602229Abdominal pain; Abnormal eyebrow morphology; Abnormal macular morphology; Abnormal pyramidal signs; Abnormality of the voice; Abnormality of vision; Absent brainstem auditory responses; Aganglionic megacolon; Alacrima; Anosmia; Anterior hypopituitarism; Aplasia of the semicircular canal; Areflexia; Ataxia; Autonomic dysregulation; Autosomal dominant inheritance; Blue irides; Breast hypoplasia; Cafe-au-lait spot; Cerebral dysmyelination; Cerebral hypomyelination; Constipation; Cryptorchidism; Decreased fertility; Decreased lacrimation; Decreased nerve conduction velocity; Decreased testicular size; Delayed puberty; Demyelinating peripheral neuropathy; Dilated vestibule of the inner ear; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysmyelinating leukodystrophy; Erectile abnormalities; Global developmental delay; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypertonia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the iris; Hypoplasia of the semicircular canal; Hyporeflexia; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Ileus; Intellectual disability; Intestinal obstruction; Long-segment aganglionic megacolon; Microcolon; Micropenis; Muscular hypotonia; Muscular hypotonia of the trunk; Myelin outfoldings; Neonatal hypotonia; Nystagmus; Olfactory lobe agenesis; Pectus excavatum; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Phenotypic variability; Premature graying of hair; Prominent nasal bridge; Reduced bone mineral density; Seizures; Sensorineural hearing impairment; Spastic paraparesis; Spastic tetraplegia; Spasticity; Synophrys; Telecanthus; Underdeveloped nasal alae; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
SOX23q26.33100%gene with protein product184429Agenesis of corpus callosum; Anophthalmia; Anterior pituitary hypoplasia; Autosomal dominant inheritance; Butterfly vertebrae; Cleft palate; Coloboma; Cryptorchidism; Esophageal atresia; Frontal bossing; Generalized hypotonia; Global developmental delay; Hearing impairment; Hemiplegia/hemiparesis; Hemivertebrae; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypospadias; Hypothalamic hamartoma; Microcephaly; Micropenis; Microphthalmia; Missing ribs; Nystagmus; Optic nerve hypoplasia; Patent ductus arteriosus; Postnatal growth retardation; Rib fusion; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Short stature; Spastic diplegia; Spastic tetraplegia; Specific learning disability; Strabismus; Supernumerary ribs; Tracheoesophageal fistula; Ventricular septal defect; Vertebral fusion; Vertebral hypoplasia; Visual impairment; Visual lossDisorders of Sex Development
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
STXBP19q34.11100%gene with protein product602926Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal dominant inheritance; Camptodactyly of finger; Cerebral atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; Clinodactyly of the 5th finger; Cutaneous photosensitivity; Developmental regression; EEG abnormality; EEG with burst suppression; Epileptic encephalopathy; Epileptic spasms; Febrile seizures; Fine hair; Focal clonic seizures; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Hearing impairment; Hypoplasia of the corpus callosum; Hypsarrhythmia; Impaired horizontal smooth pursuit; Infantile encephalopathy; Infantile spasms; Intellectual disability; Intellectual disability, severe; Long philtrum; Microcephaly; Muscular hypotonia; Myoclonus; Neonatal onset; Nephrolithiasis; Neurodevelopmental delay; Obtundation status; Pschomotor retardation; Seizures; Severe global developmental delay; Spastic paraplegia; Spastic tetraplegia; Spasticity; Status epilepticus; Thick vermilion border; Tremor; Underdeveloped nasal alae; Variable expressivity; Ventriculomegaly; Wide mouth; Wide nose
SYNJ121q22.11100%gene with protein product604297Abnormal pyramidal signs; Akinesia; Autosomal recessive inheritance; Bradykinesia; Brain atrophy; Dysarthria; Dystonia; Elevated serum creatine phosphokinase; Epileptic encephalopathy; Eyelid apraxia; Fatigue; Feeding difficulties; Gait ataxia; Generalized hypotonia; Hypomimic face; Hypoplasia of the corpus callosum; Hyporeflexia; Inability to walk; Increased serum lactate; Intellectual disability; Intellectual disability, profound; Leg muscle stiffness; Parkinsonism; Pes cavus; Postural instability; Progressive; Progressive neurologic deterioration; Resting tremor; Rigidity; Scoliosis; Seizures; Short stepped shuffling gait; Shuffling gait; Slowed slurred speech; Spastic tetraplegia; Staring gaze; Status epilepticus; Supranuclear gaze palsy; Tremor; Weak voice
TBC1D2020p13100%gene with protein product611663C20orf140Abnormality of retinal pigmentation; Abnormality of visual evoked potentials; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral cortical atrophy; Clitoral hypoplasia; Congenital cataract; Cortical visual impairment; Cryptorchidism; Decreased muscle mass; Decreased testicular size; Deeply set eye; Delayed puberty; Flexion contracture; Frontoparietal polymicrogyria; Generalized hirsutism; Glaucoma; Global developmental delay; High palate; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplastic labia minora; Intellectual disability, severe; Intrauterine growth retardation; Joint stiffness; Kyphosis; Lissencephaly; Low anterior hairline; Low-set, posteriorly rotated ears; Macrotia; Microcephaly; Microcornea; Micrognathia; Micropenis; Microphthalmia; Muscular hypotonia; Narrow mouth; Optic atrophy; Pachygyria; Postnatal microcephaly; Ptosis; Scoliosis; Scrotal hypoplasia; Severe postnatal growth retardation; Short nose; Short philtrum; Short stature; Spastic tetraplegia; Spasticity; Wide nasal bridge
TBCD17q25.3100%gene with protein product604649Arthrogryposis multiplex congenita; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Cerebellar atrophy; CNS hypomyelination; Constipation; Developmental regression; Diffuse cerebral atrophy; Encephalopathy; Facial hypotonia; Feeding difficulties; Gliosis; Global developmental delay; Hypertelorism; Hypoplasia of the corpus callosum; Intellectual disability; Micrognathia; Muscle weakness; Neuronal loss in central nervous system; Optic atrophy; Postnatal microcephaly; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Sparse eyebrow; Spastic tetraplegia; Tongue fasciculations; Upslanted palpebral fissure; Variable expressivity; Ventriculomegaly; Widely spaced teeth
TBCE1q42.3100%gene with protein product604934KCS, HRDAbnormality of dental enamel; Anemia; Ataxia; Autosomal recessive inheritance; Bifid uvula; Birth length less than 3rd percentile; Calvarial osteosclerosis; Carious teeth; Cerebellar atrophy; Congenital hypoparathyroidism; Convex nasal ridge; Cortical thickening of long bone diaphyses; Cryptorchidism; Decreased skull ossification; Deeply set eye; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed myelination; Delayed skeletal maturation; Depressed nasal bridge; Dysarthria; Encephalopathy; External ear malformation; Foot dorsiflexor weakness; Frontal bossing; Full cheeks; Global developmental delay; Growth hormone deficiency; High forehead; Hyperphosphatemia; Hypertelorism; Hypocalcemia; Hypocalcemic seizures; Hypocalcemic tetany; Hypomagnesemia; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long clavicles; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Optic atrophy; Patchy osteosclerosis; Peripheral axonal neuropathy; Posteriorly rotated ears; Postnatal growth retardation; Progressive; Prominent forehead; Proportionate short stature; Recurrent bacterial infections; Recurrent respiratory infections; Scoliosis; Seizures; Severe intrauterine growth retardation; Severe muscular hypotonia; Short foot; Short palm; Short stature; Slender long bone; Small hand; Spastic tetraplegia; Spinal muscular atrophy; Stenosis of the medullary cavity of the long bones; Tetany; Thin clavicles; Thin long bone diaphyses; Thin ribs; Thin vermilion border; Ventriculomegaly
TUBA1A12q13.12100%gene with protein product602529Agenesis of corpus callosum; Ataxia; Autosomal dominant inheritance; Cerebellar vermis hypoplasia; Generalized hypotonia; Heterotopia; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Intellectual disability, severe; Lissencephaly; Microcephaly; Motor delay; Pachygyria; Polymicrogyria; Seizures; Spastic tetraplegia; Ventriculomegaly
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


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