XomeDxSlice Tool

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

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Phenotypes
Unsteady gait

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
AIFM1Xq26.1100%gene with protein product300169PDCD8, NAMSDAbnormal middle ear reflexes; Abnormal speech discrimination; Abnormality of the striatum; Areflexia; Decreased nerve conduction velocity; Delayed speech and language development; Developmental regression; Distal muscle weakness; Distal sensory impairment; Generalized hypotonia; Generalized muscle weakness; Hearing impairment; Hypokinesia; Impaired pain sensation; Increased connective tissue; Increased CSF lactate; Increased serum lactate; Increased serum pyruvate; Increased variability in muscle fiber diameter; Intellectual disability; Irritability; Kyphosis; Moderate global developmental delay; Pes cavus; Respiratory distress; Respiratory insufficiency; Scoliosis; Sensorimotor neuropathy; Sensory axonal neuropathy; Sensory neuropathy; Severe muscular hypotonia; Skeletal muscle atrophy; Tinnitus; Tongue fasciculations; Unsteady gait; X-linked recessive inheritance
ATP1A319q13.2100%gene with protein product182350DYT12Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Blindness; Bradykinesia; Choreoathetosis; Depressivity; Drooling; Dysarthria; Dysmetria; Dysphagia; Dystonia; Emotional lability; Encephalopathy; Episodic ataxia; Episodic generalized hypotonia; Episodic quadriplegia; Gait ataxia; Global developmental delay; Hemiparesis; Hemiplegia; Hypomimic face; Incomplete penetrance; Intellectual disability; Mental deterioration; Muscle weakness; Mutism; Nystagmus; Optic atrophy; Parkinsonism; Pes cavus; Postural instability; Progressive sensorineural hearing impairment; Progressive visual loss; Sensorineural hearing impairment; Status epilepticus; Torticollis; Truncal ataxia; Unsteady gait; Young adult onset
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
CACNA1G17q21.33100%gene with protein product604065Autosomal dominant inheritance; Cerebellar atrophy; Cognitive impairment; Depressivity; Diplopia; Horizontal nystagmus; Loss of Purkinje cells in the cerebellar vermis; Slow progression; Spastic ataxia; Unsteady gait
CAMTA11p36.31-p36.100%gene with protein product611501Abnormal cortical gyration; Abnormal social behavior; Aggressive behavior; Anteverted nares; Autistic behavior; Autosomal dominant inheritance; Bulbous nose; Cerebellar hypoplasia; Cerebral cortical atrophy; Constipation; Deeply set eye; Delayed speech and language development; Dysarthria; Dysmetria; Global developmental delay; Intellectual disability, mild; Long face; Long philtrum; Memory impairment; Neonatal hypotonia; Nonprogressive cerebellar ataxia; Pointed chin; Segmental myoclonic seizures; Strabismus; Thick lower lip vermilion; Unsteady gait; Wide nose
CAMTA11p36.31-p36.100%gene with protein product611501Abnormal cortical gyration; Abnormal social behavior; Aggressive behavior; Anteverted nares; Autistic behavior; Autosomal dominant inheritance; Bulbous nose; Cerebellar hypoplasia; Cerebral cortical atrophy; Constipation; Deeply set eye; Delayed speech and language development; Dysarthria; Dysmetria; Global developmental delay; Intellectual disability, mild; Long face; Long philtrum; Memory impairment; Neonatal hypotonia; Nonprogressive cerebellar ataxia; Pointed chin; Segmental myoclonic seizures; Strabismus; Thick lower lip vermilion; Unsteady gait; Wide nose
CCDC88C14q32.11-q32100%gene with protein product611204KIAA1509Adult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Broad-based gait; Congenital onset; Dysarthria; Dysdiadochokinesis; Hydrocephalus; Hyperreflexia; Intellectual disability; Intention tremor; Pontocerebellar atrophy; Seizures; Slow progression; Spastic paraparesis; Unsteady gait; Ventriculomegaly
CREBBP16p13.399.97%gene with protein product600140RSTSAbnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Hearing impairment; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Obstructive sleep apnea; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Truncal obesity; Unsteady gait; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeDisorders of Sex Development; Obesity
CWF19L110q24.3199.95%gene with protein product616120Autosomal recessive inheritance; Dysarthria; Dysmetria; Generalized hypotonia; Global developmental delay; Infantile onset; Intellectual disability; Nonprogressive; Slow progression; Tremor; Truncal ataxia; Unsteady gait
CYP2U14q25100%gene with protein product610670Autosomal recessive inheritance; Babinski sign; Global developmental delay; Lower limb hyperreflexia; Motor delay; Spastic gait; Spastic paraplegia; Toe walking; Unsteady gait; Variable expressivity
CYP2U14q25100%gene with protein product610670Autosomal recessive inheritance; Babinski sign; Global developmental delay; Lower limb hyperreflexia; Motor delay; Spastic gait; Spastic paraplegia; Toe walking; Unsteady gait; Variable expressivity
DAB11p32.2100%gene with protein product603448Abnormal conjugate eye movement; Ataxia; Autosomal dominant inheritance; Cerebellar vermis atrophy; Cogwheel rigidity; Diffuse cerebellar atrophy; Dysarthria; Dysdiadochokinesis; Falls; Frequent falls; Horizontal nystagmus; Limb dysmetria; Myoclonus; Scanning speech; Sensorineural hearing impairment; Sensory impairment; Slow progression; Tremor; Truncal ataxia; Unsteady gait
DCPS11q24.2100%gene with protein product610534Autosomal recessive inheritance; Brachydactyly; Congenital onset; Deeply set eye; Flat face; Generalized hypotonia; Global developmental delay; Hypopigmentation of the skin; Joint laxity; Low-set ears; Microcephaly; Narrow mouth; Sandal gap; Short nose; Thin upper lip vermilion; Unsteady gait
DNAJB22q35100%gene with protein product604139HSJ1Adult onset; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Distal sensory impairment; Foot dorsiflexor weakness; Gait disturbance; Hyporeflexia; Slow progression; Spinal muscular atrophy; Unsteady gait
EEF1A220q13.33100%gene with protein product602959STNL, STNAggressive behavior; Autosomal dominant inheritance; Deeply set eye; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus; Epileptic encephalopathy; Everted lower lip vermilion; Global developmental delay; Hypsarrhythmia; Infantile onset; Intellectual disability; Intellectual disability, severe; Low-set ears; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Postnatal microcephaly; Seizures; Tented upper lip vermilion; Unsteady gait
EIF2B112q24.31100%gene with protein product606686EIF2BAutosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B214q24.3100%gene with protein product606454Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B31p34.1100%gene with protein product606273Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B42p23.3100%gene with protein product606687Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EIF2B53q27.1100%gene with protein product603945Autosomal recessive inheritance; Cerebral hypomyelination; Cessation of head growth; CNS demyelination; Decreased circulating progesterone; Delusions; Developmental regression; Dysarthria; Emotional lability; Generalized hypotonia; Juvenile onset; Lethargy; Leukoencephalopathy; Macrocephaly; Memory impairment; Optic atrophy; Personality changes; Premature ovarian insufficiency; Primary gonadal insufficiency; Secondary amenorrhea; Seizures; Spasticity; Unsteady gait
EP30022q13.2100%gene with protein product602700Abnormal cornea morphology; Abnormal number of teeth; Abnormality of refraction; Abnormality of the cervical spine; Abnormality of the kidney; Abnormality of the pinna; Aganglionic megacolon; Agenesis of corpus callosum; Agoraphobia; Arrhythmia; Atrial septal defect; Autism; Autosomal dominant inheritance; Avascular necrosis of the capital femoral epiphysis; Bifid uterus; Bimanual synkinesia; Broad hallux; Broad thumb; Cafe-au-lait spot; Capillary hemangiomas; Carious teeth; Cataract; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Coloboma; Congenital onset; Constipation; Convex nasal ridge; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Delayed gross motor development; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Dental malocclusion; Deviated nasal septum; Dislocated radial head; Downslanted palpebral fissures; Duane anomaly; Duplication of phalanx of hallux; EEG abnormality; Epicanthus; Facial grimacing; Failure to thrive; Feeding difficulties in infancy; Flared iliac wings; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Glaucoma; Global developmental delay; Hearing impairment; Hereditary nonpolyposis colorectal carcinoma; Heterogeneous; High axial triradius; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Hyperreflexia; Hypoplasia of dental enamel; Hypoplasia of the maxilla; Hypoplastic iliac wing; Hypospadias; Impulsivity; Intellectual disability; Intellectual disability, mild; Joint hypermobility; Joint laxity; Keloids; Large foramen magnum; Laryngomalacia; Long eyelashes; Low anterior hairline; Low hanging columella; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Muscular hypotonia; Narrow mouth; Narrow palate; Nasolacrimal duct obstruction; Neoplasm of the stomach; Obstructive sleep apnea; Overbite; Papillary cystadenoma of the epididymis; Parietal foramina; Patellar dislocation; Patent ductus arteriosus; Pectus excavatum; Pes planus; Phonophobia; Plantar crease between first and second toes; Polydactyly; Polyhydramnios; Poor coordination; Posterior helix pit; Postnatal growth retardation; Premature thelarche; Prominent fingertip pads; Prominent nose; Proptosis; Ptosis; Radial deviation of thumb terminal phalanx; Recurrent upper respiratory tract infections; Renal cell carcinoma; Respiratory distress; Retrognathia; Scoliosis; Seizures; Self-mutilation; Shawl scrotum; Short attention span; Short stature; Single transverse palmar crease; Spina bifida occulta; Sporadic; Stereotypy; Syndactyly; Talon cusp; Tethered cord; Thick eyebrow; Transitional cell carcinoma of the bladder; Truncal obesity; Unsteady gait; Uterine leiomyosarcoma; Variable expressivity; Vascular ring; Ventricular septal defect; Wide anterior fontanel; Wide nasal bridgeObesity
GAN16q23.299.89%gene with protein product605379Abnormal hand morphology; Abnormal pyramidal signs; Abnormality of the Achilles tendon; Abnormality of the cerebellum; Abnormality of the hand; Areflexia; Areflexia of lower limbs; Autosomal recessive inheritance; CNS hypomyelination; Curly hair; Decreased number of peripheral myelinated nerve fibers; Difficulty walking; Diffuse axonal swelling; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Facial palsy; Generalized hypotonia; Hyperreflexia; Hyporeflexia of lower limbs; Intellectual disability; Joint hypermobility; Juvenile onset; Morphological abnormality of the pyramidal tract; Motor axonal neuropathy; Nystagmus; Pes cavus; Pes planus; Phenotypic variability; Pili canaliculi; Proximal muscle weakness; Scoliosis; Sensory axonal neuropathy; Slow progression; Spastic paraplegia; Spasticity; Steppage gait; Talipes equinovarus; Unsteady gait; Woolly hair
HERC215q13.199.37%gene with protein product605837Abdominal obesity; Aggressive behavior; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Blue irides; Clinodactyly; Clitoral hypoplasia; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Failure to thrive in infancy; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperactivity; Hyperinsulinemia; Hypermetropia; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infantile onset; Infertility; Intellectual disability; Kyphosis; Mandibular prognathia; Micropenis; Motor delay; Narrow forehead; Narrow nasal bridge; Narrow palate; Narrow palm; Nasal speech; Obesity; Oligomenorrhea; Plagiocephaly; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Sandal gap; Scoliosis; Self-mutilation; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Strabismus; Thin upper lip vermilion; Unsteady gait; Ventriculomegaly
KIF1A2q37.3100%gene with protein product601255ATSV, C2orf20, SPG30Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of eye movement; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of saccadic eye movements; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the palate; Abnormality of upper lip; Acral ulceration leading to autoamputation of digits; Anhidrosis; Ankle clonus; Anteverted nares; Areflexia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Biparietal narrowing; Cerebellar atrophy; Cerebral cortical atrophy; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Distal amyotrophy; Distal sensory impairment; Drowsiness; Dysmetria; Dystrophic fingernails; Dystrophic toenail; Edema of the lower limbs; Epicanthus; Episodic hyperhidrosis; External ear malformation; Feeding difficulties; Feeding difficulties in infancy; Foot acroosteolysis; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hydrocephalus; Hyperhidrosis; Hyperlordosis; Hyperreflexia; Hyporeflexia; Hypsarrhythmia; Infantile onset; Infantile spasms; Intellectual disability, severe; Leg muscle stiffness; Limitation of joint mobility; Lower limb amyotrophy; Lower limb hyperreflexia; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Malar flattening; Microcephaly; Midface retrusion; Open mouth; Optic atrophy; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Palpebral edema; Paronychia; Peripheral axonal neuropathy; Peripheral edema; Peripheral neuropathy; Porencephalic cyst; Progressive; Progressive spastic paraplegia; Recurrent respiratory infections; Reduced bone mineral density; Scissor gait; Sensorimotor neuropathy; Severe muscular hypotonia; Short nose; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraplegia; Tapered finger; Unsteady gait; Urinary bladder sphincter dysfunction; Variable expressivity; Ventriculomegaly; Visual loss; Wormian bones
MGAT214q21.3100%gene with protein product602616Abnormality of the rib cage; Aggressive behavior; Autosomal recessive inheritance; Brachycephaly; Coxa valga; Diastema; Downslanted palpebral fissures; Everted lower lip vermilion; Failure to thrive; Generalized hypotonia; Gingival overgrowth; Intellectual disability, progressive; Intellectual disability, severe; Long eyelashes; Low hanging columella; Macrocephaly; Macrodontia; Macrotia; Microcephaly; Midfrontal capillary hemangioma; Open mouth; Osteopenia; Pectus excavatum; Pes planus; Posteriorly rotated ears; Postnatal growth retardation; Prominent nasal bridge; Protruding tongue; Proximal placement of thumb; Reduced antithrombin III activity; Reduced factor IX activity; Reduced factor XI activity; Reduced factor XII activity; Retrognathia; Seizures; Self-mutilation; Sensorineural hearing impairment; Short neck; Short stature; Slender long bone; Stereotypy; Tall stature; Thick eyebrow; Thin vermilion border; Thoracolumbar kyphoscoliosis; Type II transferrin isoform profile; Unsteady gait; Ventricular septal defect; Wide mouth
MME3q25.299.96%gene with protein product120520Adult onset; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Distal amyotrophy; Distal sensory impairment; Dysarthria; Foot dorsiflexor weakness; Gait ataxia; Hyporeflexia; Limb ataxia; Pes cavus; Slow progression; Tremor; Unsteady gait
MTFMT15q22.3199.98%gene with protein product611766Abnormality of the cerebral white matter; Autosomal recessive inheritance; Cognitive impairment; Delayed speech and language development; Global developmental delay; Incoordination; Increased CSF lactate; Phenotypic variability; Unsteady gait
NAT8L4p16.394.42%gene with protein product610647Autosomal recessive inheritance; Decreased body weight; Generalized hypotonia; Global developmental delay; Inguinal hernia; Microcephaly; Seizures; Short attention span; Short stature; Stereotypy; Truncal ataxia; Unsteady gait
OPA319q13.32100%gene with protein product6065803-Methylglutaconic aciduria; Abnormality of extrapyramidal motor function; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cataract; Central scotoma; Cerebellar atrophy; Chorea; Choreoathetosis; Cognitive impairment; Dysarthria; Hyperreflexia; Intellectual disability; Muscle cramps; Nystagmus; Optic atrophy; Pain; Paresthesia; Posterior cortical cataract; Postural tremor; Reduced visual acuity; Spastic paraparesis; Spasticity; Tremor; Unsteady gait; Visual impairment
PCNA20p12.3100%gene with protein product176740Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Conjunctival telangiectasia; Cutaneous photosensitivity; Dysarthria; Dysphagia; Global developmental delay; Muscle weakness; Neurodegeneration; Pes cavus; Photophobia; Progressive; Progressive muscle weakness; Short stature; Unsteady gait
PDE10A6q2798.98%gene with protein product610652Abnormality of the striatum; Autosomal dominant inheritance; Autosomal recessive inheritance; Chorea; Drooling; Dysarthria; Dyskinesia; Frequent falls; Hyperkinesis; Infantile onset; Intellectual disability; Mental deterioration; Motor delay; Muscular hypotonia of the trunk; Nonprogressive; Orofacial dyskinesia; Parkinsonism; Seizures; Unsteady gait
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
PEX28q21.13100%gene with protein product170993PXMP3Abnormal chorioretinal morphology; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Brushfield spots; Camptodactyly; Cataract; Cerebellar atrophy; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Difficulty running; Dolichocephaly; Dysarthria; Dysmetria; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; Hepatosplenomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hyporeflexia; Hypospadias; Intellectual disability; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrogyria; Malabsorption; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Oculomotor apraxia; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Pigmentary retinopathy; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Slow progression; Slow saccadic eye movements; Spasticity; Splenomegaly; Stippled chondral calcification; Strabismus; Talipes equinovarus; Tremor; Underdeveloped supraorbital ridges; Unsteady gait; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
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
PMPCA9q34.3100%gene with protein product613036INPP5EAbnormality of the retinal vasculature; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Cataract; Cerebellar hypoplasia; Delayed speech and language development; Dysarthria; Dysmetria; Gait ataxia; Gait disturbance; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Hyperreflexia; Incoordination; Infantile onset; Intellectual disability; Limb ataxia; Malabsorption; Muscular hypotonia; Nonprogressive; Nystagmus; Ocular albinism; Saccadic smooth pursuit; Scoliosis; Spasticity; Tremor; Unsteady gait; White hair
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
PRNP20p13100%gene with protein product176640PRIP, GSS, CJDAbdominal symptom; Adult onset; Aggressive behavior; Akinetic mutism; Anxiety; Apathy; Aphasia; Apnea; Apraxia; Areflexia; Astrocytosis; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Babinski sign; Basal ganglia gliosis; Bradykinesia; Central nervous system degeneration; Cerebellar atrophy; Childhood onset; Chorea; Clumsiness; Confusion; Constipation; Deficit in phonologic short-term memory; Delusions; Dementia; Depressivity; Diffuse spongiform leukoencephalopathy; Diplopia; Dysarthria; Dysautonomia; Dysmetria; Dysphagia; EEG with persistent abnormal rhythmic activity; Emotional lability; Encephalopathy; Extrapyramidal muscular rigidity; Fever; Focal T2 hyperintense basal ganglia lesion; Gait ataxia; Gliosis; Global brain atrophy; Hallucinations; Hemiparesis; Hyperhidrosis; Hyperreflexia; Hypersomnia; Impaired smooth pursuit; Incoordination; Insomnia; Irritability; Jaw pain; Limb ataxia; Loss of facial expression; Lower limb muscle weakness; Memory impairment; Muscle weakness; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perseveration; Personality changes; Phenotypic variability; Poor visual behavior for age; Progressive cerebellar ataxia; Progressive extrapyramidal muscular rigidity; Progressive forgetfulness; Psychosis; Rapidly progressive; Restlessness; Rigidity; Seizures; Senile plaques; Short attention span; Sleep disturbance; Slurred speech; Spastic dysarthria; Spastic hemiparesis; Spasticity; Specific learning disability; Stroke-like episode; Supranuclear gaze palsy; Tremor; Truncal ataxia; Unsteady gait; Urinary retention; Visual impairment; Weight loss
RNASEH12p25.3100%gene with protein product604123Autosomal recessive inheritance; Cerebellar atrophy; Dysarthria; Dysphagia; Exercise intolerance; Increased serum lactate; Postural instability; Progressive; Progressive external ophthalmoplegia; Ptosis; Skeletal muscle atrophy; Unsteady gait
RUBCN3q29100%gene with protein productFormer Name = KIAA0226613516KIAA0226Ataxia; Autosomal recessive inheritance; Dysarthria; Hyperreflexia; Hyporeflexia; Intellectual disability; Motor delay; Nystagmus; Progressive; Seizures; Unsteady gait
SAMD9L7q21.2100%gene with protein product611170C7orf6Abnormal macrophage morphology; Abnormality of neutrophils; Acute myelomonocytic leukemia; Ankle clonus; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal dominant inheritance; Babinski sign; Cerebellar atrophy; Decreased nerve conduction velocity; Dysarthria; Dysmetria; Hyperactive deep tendon reflexes; Hyperreflexia; Hypoplastic anemia; Impaired vibration sensation in the lower limbs; Neurological speech impairment; Nystagmus; Pancytopenia; Recurrent respiratory infections; Splenomegaly; Unsteady gait; Variable expressivityAplastic Anemia ; Bone Marrow Failure Syndromes
SAMD9L7q21.2100%gene with protein product611170C7orf6Abnormal macrophage morphology; Abnormality of neutrophils; Acute myelomonocytic leukemia; Ankle clonus; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal dominant inheritance; Babinski sign; Cerebellar atrophy; Decreased nerve conduction velocity; Dysarthria; Dysmetria; Hyperactive deep tendon reflexes; Hyperreflexia; Hypoplastic anemia; Impaired vibration sensation in the lower limbs; Neurological speech impairment; Nystagmus; Pancytopenia; Recurrent respiratory infections; Splenomegaly; Unsteady gait; Variable expressivityAplastic Anemia ; Bone Marrow Failure Syndromes
SGCA17q21.33100%gene with protein product600119ADLAutosomal recessive inheritance; Calf muscle hypertrophy; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Flexion contracture; Juvenile onset; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Progressive; Unsteady gait; Variable expressivityRhabdomyolysis
SHANK322q13.3399.21%gene with protein product6062302-3 toe syndactyly; Abnormality of the dentition; Accelerated skeletal maturation; Autism; Autistic behavior; Broad-based gait; Bruxism; Bulbous nose; Clinodactyly of the 5th finger; Concave nasal ridge; Deeply set eye; Delayed speech and language development; Dental malocclusion; Dolichocephaly; Epicanthus; Episodic vomiting; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Heat intolerance; High palate; Hyperactivity; Hyperorality; Hypohidrosis; Hypoplastic toenails; Hyporeflexia; Immunodeficiency; Impaired pain sensation; Intellectual disability, moderate; Large hands; Long eyelashes; Long philtrum; Lymphedema; Macrocephaly; Macrotia; Malar flattening; Motor delay; Neonatal hypotonia; Palpebral edema; Pointed chin; Poor eye contact; Prominent supraorbital ridges; Protruding ear; Ptosis; Sacral dimple; Seizures; Short chin; Sporadic; Strabismus; Tall stature; Thick eyebrow; Toenail dysplasia; Unsteady gait; Wide nasal bridge
STUB116p13.3100%gene with protein product607207Autosomal recessive inheritance; Cerebellar atrophy; Cerebellar hypoplasia; Dysarthria; Limb ataxia; Progressive; Truncal ataxia; Unsteady gait
SUCLG12p11.2100%gene with protein product611224Abnormality of the skin; Ataxia; Autosomal recessive inheritance; Cerebral atrophy; Encephalopathy; Failure to thrive; Feeding difficulties; Global developmental delay; Growth delay; Hyperhidrosis; Hypoglycemia; Hypophosphatemia; Infantile onset; Intellectual disability, severe; Intermittent hyperpnea at rest; Lactic acidosis; Methylmalonic aciduria; Muscular hypotonia; Phenotypic variability; Poor motor coordination; Renal aminoaciduria; Respiratory failure; Seizures; Skeletal muscle atrophy; Unsteady gaitRhabdomyolysis
TPI112p13.31100%gene with protein product190450Abnormality of immune system physiology; Autosomal recessive inheritance; Central nervous system degeneration; Cholecystitis; Cholelithiasis; Chronic hemolytic anemia; Congestive heart failure; Diaphragmatic paralysis; Dystonia; Generalized hypotonia; Global developmental delay; Hemolytic anemia; Hyporeflexia; Jaundice; Kyphosis; Muscular hypotonia; Myopathy; Normochromic anemia; Normocytic anemia; Peripheral neuropathy; Progressive muscle weakness; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Spasticity; Splenomegaly; Tremor; Unsteady gaitHemolytic Anemia
TRPC34q27100%gene with protein product602345Adult onset; Autosomal dominant inheritance; Cerebellar atrophy; Progressive; Unsteady gait
VAC1416q22.1-q22.100%gene with protein product604632TAX1BP2Abnormal pelvis bone morphology; Abnormality of dental structure; Abnormality of the occipital bone; Abnormality of the parietal bone; Absent sternal ossification; Absent thumb; Agenesis of corpus callosum; Anteverted nares; Aplasia of the 1st metacarpal; Aplasia of the distal phalanges of the hand; Aplasia of the distal phalanx of the hallux; Aplasia/hypoplasia of the 1st metatarsal; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the nails; Aplasia/Hypoplasia of the nipples; Arrhinencephaly; Autosomal recessive inheritance; Bilateral external ear deformity; Bilateral microphthalmos; Broad secondary alveolar ridge; Cardiomegaly; Cardiomyopathy; Cataract; Congenital microcephaly; Craniofacial dystonia; Decreased skull ossification; Delayed speech and language development; Developmental regression; Dolichocephaly; Drooling; Dysphagia; Generalized neonatal hypotonia; Global developmental delay; High forehead; High, narrow palate; Hyperreflexia; Hypertelorism; Hypertonia; Hypoplasia of the frontal lobes; Hypospadias; Loss of ability to walk; Low-set ears; Metatarsus adductus; Micrognathia; Micropenis; Neuronal loss in central nervous system; Pachygyria; Postnatal growth retardation; Premature loss of primary teeth; Progressive; Proptosis; Pulmonary arterial hypertension; Redundant neck skin; Rocker bottom foot; Sclerocornea; Severe failure to thrive; Short chin; Short middle phalanx of finger; Short philtrum; Short proximal phalanx of hallux; Short stature; Short upper lip; Shortening of all distal phalanges of the toes; Single transverse palmar crease; Sparse eyebrow; Sparse eyelashes; Sparse scalp hair; Syndactyly; Tapered finger; Thin vermilion border; Unsteady gait; Upslanted palpebral fissure; Ventricular septal defect; Wide cranial sutures
VWA3B2q11.2100%gene with protein product614884Abnormal pyramidal signs; Autosomal recessive inheritance; Cerebellar atrophy; Dysarthria; Dysmetria; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Intention tremor; Lower limb spasticity; Nystagmus; Slow progression; Truncal ataxia; Unsteady gait


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