XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

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SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Dysmetria

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCB7Xq13.399.99%gene with protein product300135ABC7Abnormality of metabolism/homeostasis; Abnormality of movement; Anemia; Ataxia; Babinski sign; Clonus; Dysarthria; Dysdiadochokinesis; Dysmetria; Global developmental delay; Hyperreflexia; Hypochromic microcytic anemia; Intention tremor; Juvenile onset; Neurological speech impairment; Nonprogressive cerebellar ataxia; Nystagmus; Sideroblastic anemia; X-linked recessive inheritanceAplastic Anemia ; Bone Marrow Failure Syndromes
ABHD1220p11.2199.99%gene with protein product613599C20orf22Achilles tendon contracture; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Decreased nerve conduction velocity; Distal amyotrophy; Distal sensory impairment; Dysarthria; Dysmetria; Hyperreflexia; Hyporeflexia; Intention tremor; Nystagmus; Onset; Optic atrophy; Pes cavus; Phenotypic variability; Polyneuropathy; Rod-cone dystrophy; Sensorimotor neuropathy; Sensorineural hearing impairment; Slow progression; Spasticity; Subcapsular cataract
ACOX23p14.3100%gene with protein product601641Autosomal recessive inheritance; Delayed speech and language development; Dysmetria; Global developmental delay; Hypolipidemia; Infantile onset; Intellectual disability, mild; Slurred speech; Steatorrhea; Vertical supranuclear gaze palsy; Vitamin D deficiency
AFG3L218p11.2199.9%gene with protein product604581SCA28Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Dystonia; Gait ataxia; Gaze-evoked nystagmus; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Increased intramyocellular lipid droplets; Infantile onset; Limb ataxia; Lower limb hyperreflexia; Muscle weakness; Myoclonus; Oculomotor apraxia; Ophthalmoparesis; Progressive; Ptosis; Sensorimotor neuropathy; Skeletal muscle atrophy; Slow progression; Slow saccadic eye movements; Spastic ataxia; Spastic paraparesis; Spasticity; Variable expressivity
ANO103p22.1-p21.3100%gene with protein product613726TMEM16KAbnormal enzyme/coenzyme activity; Ankle clonus; Autosomal recessive inheritance; Brisk reflexes; Cerebellar atrophy; Downbeat nystagmus; Dysarthria; Dysmetria; Dysmetric saccades; EMG abnormality; Fasciculations; Gait ataxia; Generalized seizures; Hypermetric saccades; Hyperreflexia; Leg muscle stiffness; Limb ataxia; Macular degeneration; Nystagmus; Pes cavus; Progressive cerebellar ataxia; Progressive gait ataxia; Ptosis; Saccadic smooth pursuit; Slurred speech; Truncal ataxia
ANO103p22.1-p21.3100%gene with protein product613726TMEM16KAbnormal enzyme/coenzyme activity; Ankle clonus; Autosomal recessive inheritance; Brisk reflexes; Cerebellar atrophy; Downbeat nystagmus; Dysarthria; Dysmetria; Dysmetric saccades; EMG abnormality; Fasciculations; Gait ataxia; Generalized seizures; Hypermetric saccades; Hyperreflexia; Leg muscle stiffness; Limb ataxia; Macular degeneration; Nystagmus; Pes cavus; Progressive cerebellar ataxia; Progressive gait ataxia; Ptosis; Saccadic smooth pursuit; Slurred speech; Truncal ataxia
AP5Z17p22.1100%gene with protein product613653KIAA0415Abnormality of the cervical spine; Abnormality of the periventricular white matter; Ataxia; Autosomal recessive inheritance; Broad-based gait; Cognitive impairment; Dysmetria; Elevated serum creatine phosphokinase; Global developmental delay; Hyperintensity of cerebral white matter on MRI; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb muscle weakness; Mental deterioration; Myoclonus; Parkinsonism; Peripheral neuropathy; Progressive; Progressive spastic paraplegia; Retinopathy; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence
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
ATXN16p22.3100%gene with protein productXomeDxSlice is not appropriate.601556SCA1Abnormality of extrapyramidal motor function; Adult onset; Areflexia; Autosomal dominant inheritance; Babinski sign; Bulbar palsy; Chorea; Cognitive impairment; Dilated fourth ventricle; Distal amyotrophy; Dorsal column degeneration; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Gaze-evoked nystagmus; Generalized hypotonia; Genetic anticipation with paternal anticipation bias; Hyperreflexia; Impaired horizontal smooth pursuit; Impaired vibratory sensation; Limb ataxia; Olivopontocerebellar atrophy; Optic atrophy; Optic disc pallor; Progressive cerebellar ataxia; Scanning speech; Slow saccadic eye movements; Spasticity; Spinocerebellar atrophy; Spinocerebellar tract degeneration; Supranuclear ophthalmoplegia; Truncal ataxia; Urinary bladder sphincter dysfunction
ATXN1022q13.3199.98%gene with protein productXomeDxSlice is not appropriate for indications of ataxia; however will be accepted for indications of kidney disease.611150SCA10Abnormal pyramidal signs; Abnormality of extrapyramidal motor function; Autosomal dominant inheritance; Cerebellar atrophy; Decreased nerve conduction velocity; Dementia; Depressivity; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Gait ataxia; Genetic anticipation; Hyperreflexia; Incomplete penetrance; Incoordination; Limb ataxia; Morphological abnormality of the pyramidal tract; Nystagmus; Progressive cerebellar ataxia; Scanning speech; Seizures; Urinary incontinence; Urinary urgency
ATXN212q24.1299.04%gene with protein productXomeDxSlice is not appropriate.601517SCA2, TNRC13Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Bradykinesia; Dementia; Depressivity; Dilated fourth ventricle; Distal amyotrophy; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Dyspnea; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Gaze-evoked nystagmus; Generalized hypotonia; Generalized muscle weakness; Genetic anticipation; Hyporeflexia; Impaired horizontal smooth pursuit; Impaired vibratory sensation; Limb ataxia; Muscle cramps; Myoclonus; Neurodegeneration; Oculomotor apraxia; Olivopontocerebellar atrophy; Ophthalmoplegia; Pain; Paralysis; Postural instability; Postural tremor; Progressive cerebellar ataxia; Respiratory failure; Rigidity; Rod-cone dystrophy; Skeletal muscle atrophy; Slow saccadic eye movements; Spasticity; Spinocerebellar tract degeneration; Urinary bladder sphincter dysfunction; Xerostomia
ATXN73p14.1100%gene with protein productXomeDxSlice is not appropriate.607640SCA7Abnormality of extrapyramidal motor function; Autosomal dominant inheritance; Babinski sign; Chorea; Dysmetria; Dysphagia; Genetic anticipation with paternal anticipation bias; Macular degeneration; Olivopontocerebellar atrophy; Orofacial dyskinesia; Pigmentary retinopathy; Progressive visual loss; Slow saccadic eye movements; Spasticity; Supranuclear ophthalmoplegia
BAZ1B7q11.23100%gene with protein product605681WBSCR9, WBSCR10Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
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
CAV17q31.2100%gene with protein product601047CAVAbnormality of skin pigmentation; Abnormality of the face; Absence of subcutaneous fat; Acanthosis nigricans; Accelerated skeletal maturation; Arthralgia; Arthritis; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Broad foot; Carious teeth; Clonus; Congenital cataract; Decreased adipose tissue around neck; Diabetes mellitus; Distal sensory impairment; Dysmetria; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hirsutism; Hypercholesterolemia; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hypocalcemia; Hypopigmented skin patches; Incomplete penetrance; Increased pulmonary vascular resistance; Insulin resistance; Intellectual disability; Lack of facial subcutaneous fat; Large hands; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Lower limb muscle weakness; Malabsorption; Mandibular prognathia; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Nystagmus; Oliguria; Orthostatic hypotension; Osteolysis; Pancreatitis; Pigmentary retinopathy; Precocious puberty; Prominent supraorbital ridges; Pulmonary arterial hypertension; Pulmonary fibrosis; Pulmonary infiltrates; Reduced subcutaneous adipose tissue; Short stature; Skeletal muscle hypertrophy; Skin ulcer; Telangiectasia of the skin; Variable expressivity; Xerostomia
CLIP27q11.23100%gene with protein product603432WBSCR4, CYLN2, WBSCR3Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
CTDP118q23100%gene with protein product604927Abnormal facial shape; Abnormality of peripheral nerve conduction; Abnormality of the cervical spine; Abnormality of the dentition; Acute rhabdomyolysis; Ataxia; Autosomal recessive inheritance; Babinski sign; Camptodactyly of finger; Cataract; Cerebral atrophy; Cerebral cortical atrophy; Chorea; Cognitive impairment; Congenital cataract; Decreased motor nerve conduction velocity; Decreased serum estradiol; Dysmetria; Genu recurvatum; Global developmental delay; Hypergonadotropic hypogonadism; Hypoglycemia; Hypogonadotrophic hypogonadism; Infantile onset; Intellectual disability; Intellectual disability, mild; Intention tremor; Intrauterine growth retardation; Kyphoscoliosis; Long eyelashes; Malar prominence; Microcornea; Micrognathia; Microphthalmia; Motor axonal neuropathy; Motor delay; Motor polyneuropathy; Nystagmus; Osteoporosis; Paresthesia; Peripheral axonal degeneration; Peripheral demyelination; Peripheral hypomyelination; Pes cavus; Short stature; Split hand; Strabismus; Talipes equinovarusRhabdomyolysis
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
EBF310q26.3100%gene with protein product607407Apraxia; Astigmatism; Autosomal dominant inheritance; Broad chin; Broad nasal tip; Cryptorchidism; Deep philtrum; Deeply set eye; Delayed speech and language development; Downslanted palpebral fissures; Downturned corners of mouth; Dysarthria; Dysmetria; Dysphagia; Epicanthus; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High forehead; Horizontal eyebrow; Hypertelorism; Infantile onset; Intellectual disability; Inverted nipples; Long face; Low-set ears; Micropenis; Myopathic facies; Oval face; Overfolded helix; Posteriorly rotated ears; Prominent forehead; Prominent nasal bridge; Short chin; Stereotypy; Strabismus; Synophrys; Thin upper lip vermilion; Triangular face; Vesicoureteral reflux
ELN7q11.2399.99%gene with protein product130160Abdominal pain; Abnormality iris morphology; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the face; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Aortic regurgitation; Arrhythmia; Arthralgia; Ascending aortic dissection; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bicuspid aortic valve; Bladder diverticulum; Blepharophimosis; Blue irides; Bowel diverticulosis; Broad forehead; Broad nasal tip; Cardiomegaly; Cerebral ischemia; Chest pain; Chronic constipation; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Coronary artery atherosclerosis; Coronary artery stenosis; Cutis laxa; Cutis marmorata; Cystic medial necrosis of the aorta; Dental malocclusion; Depressed nasal bridge; Depressivity; Descending aortic dissection; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Emphysema; Enuresis; Epicanthus; Everted lower lip vermilion; Exertional dyspnea; Failure to thrive in infancy; Feeding difficulties in infancy; Flexion contracture; Full cheeks; Gait imbalance; Gastroesophageal reflux; Generalized hypotonia; Genu valgum; Glucose intolerance; Hallux valgus; Heterogeneous; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypertelorism; Hypertension; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Impaired visuospatial constructive cognition; Incoordination; Inguinal hernia; Insomnia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint laxity; Joint stiffness; Kyphoscoliosis; Kyphosis; Large earlobe; Left ventricular failure; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Medial flaring of the eyebrow; Microcephaly; Microdontia; Micrognathia; Midface retrusion; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Narrow forehead; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Obsessive-compulsive trait; Open bite; Open mouth; Osteopenia; Osteoporosis; Overfriendliness; Paroxysmal dyspnea; Pelvic kidney; Periorbital edema; Periorbital fullness; Peripheral arterial stenosis; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Poor coordination; Premature graying of hair; Premature skin wrinkling; Prematurely aged appearance; Proteinuria; Protruding ear; Pulmonary artery stenosis; Pulmonic stenosis; Rectal prolapse; Recurrent otitis media; Recurrent urinary tract infections; Redundant skin; Renal hypoplasia; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Small nail; Soft skin; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Urethral stenosis; Vesicoureteral reflux; Visual impairment; Wide mouth; Wide nasal bridge
ERMARD6q27100%gene with protein product615532C6orf70Abnormal facial shape; Autosomal dominant inheritance; Cerebellar hypoplasia; Colpocephaly; Delayed speech and language development; Dysmetria; Failure to thrive; Gait ataxia; Global developmental delay; Heterotopia; High, narrow palate; Hypermetropia; Hypertelorism; Hypoplasia of the corpus callosum; Hypsarrhythmia; Infantile muscular hypotonia; Intellectual disability, mild; Joint laxity; Low anterior hairline; Low-set, posteriorly rotated ears; Micrognathia; Nystagmus; Periventricular gray matter heterotopia; Polymicrogyria; Seizures; Strabismus; Thick vermilion border
FA2H16q23.1100%gene with protein product611026FAXDC1, SPG35Abnormality of the periventricular white matter; Ankle clonus; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Corpus callosum atrophy; Difficulty walking; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmyelinating leukodystrophy; Dystonia; Foot dorsiflexor weakness; Frequent falls; Generalized dystonia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb hypertonia; Lower limb spasticity; Mental deterioration; Neurodegeneration; Nystagmus; Oculomotor apraxia; Optic atrophy; Progressive; Seizures; Spastic paraparesis; Spastic paraplegia; Spastic tetraparesis; Strabismus; Urinary urgency
FA2H16q23.1100%gene with protein product611026FAXDC1, SPG35Abnormality of the periventricular white matter; Ankle clonus; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Corpus callosum atrophy; Difficulty walking; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmyelinating leukodystrophy; Dystonia; Foot dorsiflexor weakness; Frequent falls; Generalized dystonia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb hypertonia; Lower limb spasticity; Mental deterioration; Neurodegeneration; Nystagmus; Oculomotor apraxia; Optic atrophy; Progressive; Seizures; Spastic paraparesis; Spastic paraplegia; Spastic tetraparesis; Strabismus; Urinary urgency
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities; Mitral valve prolapse; Muscle weakness; Muscular hypotonia; Myalgia; Narrow face; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Obsessive-compulsive trait; Parkinsonism; Pectus excavatum; Periventricular gray matter heterotopia; Pes planus; Pollakisuria; Poor eye contact; Poor fine motor coordination; Postural tremor; Premature ovarian insufficiency; Protruding ear; Resting tremor; Rigidity; Saccadic smooth pursuit; Scoliosis; Seizures; Short foot; Short stature; Sinusitis; Small hand; Sparse body hair; Thin vermilion border; Truncal obesity; Urinary bladder sphincter dysfunction; Urinary incontinence; X-linked dominant inheritance; X-linked inheritance
FMR1Xq27.399.84%gene with protein productXomeDxSlice is not appropriate.309550POF1, POFAbnormal head movements; Abnormality of metabolism/homeostasis; Adult onset; Anxiety; Attention deficit hyperactivity disorder; Autism; Bowel incontinence; Bradykinesia; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Chronic otitis media; Coarse facial features; Congenital macroorchidism; Cryptorchidism; Decreased testicular size; Deeply set eye; Delayed skeletal maturation; Dementia; Depressivity; Diffuse cerebellar atrophy; Diffuse cerebral atrophy; Disinhibition; Dysarthria; Dysautonomia; Dysdiadochokinesis; Dysesthesia; Dysmetria; Failure to thrive; Folate-dependent fragile site at Xq28; Frontal bossing; Gait ataxia; Gastroesophageal reflux; Global developmental delay; Gynecomastia; Hearing impairment; High pitched voice; Hyperactivity; Hypogonadism; Hyporeflexia; Hypothyroidism; Impaired distal vibration sensation; Impotence; Incomplete penetrance; Increased circulating gonadotropin level; Inertia; Intellectual disability, mild; Intellectual disability, moderate; Intention tremor; Intrauterine growth retardation; Joint laxity; Large forehead; Long face; Macrocephaly; Macroorchidism; Macroorchidism, postpubertal; Macrotia; Mandibular prognathia; Mask-like facies; Memory impairment; Menstrual irregularities; Mitral valve prolapse; Muscle weakness; Muscular hypotonia; Myalgia; Narrow face; Neurological speech impairment; Nystagmus; Obsessive-compulsive behavior; Obsessive-compulsive trait; Parkinsonism; Pectus excavatum; Periventricular gray matter heterotopia; Pes planus; Pollakisuria; Poor eye contact; Poor fine motor coordination; Postural tremor; Premature ovarian insufficiency; Protruding ear; Resting tremor; Rigidity; Saccadic smooth pursuit; Scoliosis; Seizures; Short foot; Short stature; Sinusitis; Small hand; Sparse body hair; Thin vermilion border; Truncal obesity; Urinary bladder sphincter dysfunction; Urinary incontinence; X-linked dominant inheritance; X-linked inheritance
FXN9q21.11100%gene with protein productXomeDxSlice can detect sequencing variants but not repeat expansions in this gene.606829FRDAAbnormal echocardiogram; Abnormal EKG; Abnormality of visual evoked potentials; Areflexia of lower limbs; Autosomal recessive inheritance; Babinski sign; Cardiomyopathy; Cervical spinal cord atrophy; Congestive heart failure; Decreased amplitude of sensory action potentials; Decreased pyruvate carboxylase activity; Decreased sensory nerve conduction velocity; Diabetes mellitus; Dysarthria; Dysmetria; Falls; Gait ataxia; Gait imbalance; Hand muscle atrophy; Hypertrophic cardiomyopathy; Impaired proprioception; Impaired vibratory sensation; Impaired visually enhanced vestibulo-ocular reflex; Intention tremor; Juvenile onset; Limb ataxia; Mitochondrial malic enzyme reduced; Muscle weakness; Nystagmus; Optic atrophy; Pes cavus; Poor fine motor coordination; Scoliosis; Sensory axonal neuropathy; Sensory neuropathy; Urinary bladder sphincter dysfunction; Visual field defect
GJC21q42.1398.69%gene with protein product608803GJA12Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cellulitis; Cerebral atrophy; Cerebral hypomyelination; Choreoathetosis; Cognitive impairment; Constipation; Decreased motor nerve conduction velocity; Demyelinating motor neuropathy; Distal sensory impairment; Dysarthria; Dysmetria; Dystonia; Facial palsy; Global developmental delay; Head titubation; Hyperreflexia; Incomplete penetrance; Infantile onset; Intention tremor; Leukodystrophy; Lower limb spasticity; Lymphedema; Motor delay; Muscular hypotonia of the trunk; Myopia; Optic atrophy; Pes cavus; Poor speech; Progressive spasticity; Recurrent skin infections; Rigidity; Rotary nystagmus; Scoliosis; Seizures; Sensorineural hearing impairment; Sensory axonal neuropathy; Slow saccadic eye movements; Spastic gait; Spastic paraparesis; Spastic paraplegia; Upper limb spasticity; Urinary incontinence
GRID24q22.1-q22.2100%gene with protein product602368Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Dysarthria; Dysdiadochokinesis; Dysmetria; Esotropia; Gait ataxia; Generalized hypotonia; Global developmental delay; Incoordination; Infantile onset; Nystagmus; Oculomotor apraxia; Poor speech; Truncal ataxia
GRM16q24.3100%gene with protein product604473Abnormal pyramidal signs; Autosomal recessive inheritance; Cerebellar atrophy; Dysarthria; Dysdiadochokinesis; Dysmetria; Esotropia; Generalized hypotonia; Global developmental delay; Horizontal nystagmus; Hyperreflexia; Hypometric saccades; Infantile onset; Inferior vermis hypoplasia; Intellectual disability; Pes planus; Ptosis; Retrocerebellar cyst; Short stature; Slow progression; Tremor; Ventriculomegaly
GTF2I7q11.2358.64%gene with protein product601679WBSCR6Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
GTF2IRD17q11.23100%gene with protein product604318WBSCR11Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
HIBCH2q32.299.98%gene with protein product610690Abnormal facial shape; Abnormal vertebral morphology; Agenesis of corpus callosum; Aminoaciduria; Autosomal recessive inheritance; Developmental regression; Dysmetria; Dystonia; Epicanthus; Feeding difficulties; Generalized hypotonia; Global developmental delay; Infantile onset; Muscular hypotonia; Myoclonus; Nystagmus; Seizures; Strabismus; Tetralogy of Fallot
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
KIF1C17p13.2100%gene with protein product603060SAX2Abnormality of the cerebral white matter; Autosomal recessive inheritance; Babinski sign; Chorea; Clonus; Distal amyotrophy; Dysarthria; Dysmetria; Erratic myoclonus; Fasciculations; Frequent falls; Gait ataxia; Head titubation; Horizontal nystagmus; Hyperreflexia; Hypodontia; Lower limb hyperreflexia; Microcephaly; Peripheral demyelination; Progressive; Short stature; Spastic ataxia; Spasticity; Titubation
KIF1C17p13.2100%gene with protein product603060SAX2Abnormality of the cerebral white matter; Autosomal recessive inheritance; Babinski sign; Chorea; Clonus; Distal amyotrophy; Dysarthria; Dysmetria; Erratic myoclonus; Fasciculations; Frequent falls; Gait ataxia; Head titubation; Horizontal nystagmus; Hyperreflexia; Hypodontia; Lower limb hyperreflexia; Microcephaly; Peripheral demyelination; Progressive; Short stature; Spastic ataxia; Spasticity; Titubation
LIMK17q11.2399.5%gene with protein product601329Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
MAG19q13.199.99%gene with protein product159460GMAAreflexia of lower limbs; Astigmatism; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cognitive impairment; Corpus callosum atrophy; Dysmetria; Global developmental delay; Hypermetropia; Hyporeflexia of lower limbs; Neonatal hypotonia; Nystagmus; Optic atrophy; Peripheral neuropathy; Reduced visual acuity; Slow progression; Spastic dysarthria; Spastic paraparesisAutoimmune Disorders ; Nephrotic Syndrome ; Obesity
MARS22q33.1100%gene with protein product609728Anteverted nares; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Cerebral cortical atrophy; Cognitive impairment; Congenital onset; Depressed nasal bridge; Dysmetria; Dystonia; Feeding difficulties; Gait ataxia; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hearing impairment; Horizontal nystagmus; Hyperreflexia; Long philtrum; Low-set ears; Mild hearing impairment; Pectus carinatum; Short nose; Short stature; Spastic ataxia; Spasticity; Wide nasal bridge
NEU16p21.33100%gene with protein product608272NEUAbnormal form of the vertebral bodies; Aminoaciduria; Ascites; Ataxia; Autosomal recessive inheritance; Bone-marrow foam cells; Cardiomegaly; Cardiomyopathy; Cataract; Cherry red spot of the macula; Coarse facial features; Corneal opacity; Decreased nerve conduction velocity; Delayed skeletal maturation; Dysmetria; Dysostosis multiplex; EEG abnormality; Epiphyseal stippling; Facial edema; Frontal bossing; Gait disturbance; Generalized hypotonia; Hepatomegaly; Hernia; Hydrops fetalis; Hyperkeratosis; Hyperreflexia; Increased urinary O-linked sialopeptides; Inguinal hernia; Intellectual disability; Muscle weakness; Muscular hypotonia; Myoclonus; Neurological speech impairment; Nystagmus; Pectus carinatum; Progressive visual loss; Proteinuria; Retinopathy; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Short thorax; Skeletal dysplasia; Skeletal muscle atrophy; Slurred speech; Splenomegaly; Thick lower lip vermilion; Tremor; Urinary excretion of sialylated oligosaccharides; Vacuolated lymphocytes; Vascular skin abnormality; Visual impairment; Wide nasal bridge
OPA13q2999.94%gene with protein product605290Abnormal amplitude of pattern reversal visual evoked potentials; Abnormal auditory evoked potentials; Abnormality of color vision; Achilles tendon contracture; Adductor longus contractures; Apnea; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Breech presentation; Caesarian section; Central scotoma; Centrocecal scotoma; Cerebellar atrophy; Dysmetria; Feeding difficulties in infancy; Gait disturbance; Hamstring contractures; Horizontal nystagmus; Hyperreflexia; Hypertrophic cardiomyopathy; Impaired pain sensation; Incomplete penetrance; Increased variability in muscle fiber diameter; Insidious onset; Intellectual disability; Motor delay; Muscular hypotonia of the trunk; Myopathy; Nystagmus; Ophthalmoplegia; Opisthotonus; Optic atrophy; Peripheral neuropathy; Phenotypic variability; Profound global developmental delay; Progressive; Progressive sensorineural hearing impairment; Progressive spasticity; Progressive visual loss; Ptosis; Red-green dyschromatopsia; Reduced tendon reflexes; Reduced visual acuity; Retinal degeneration; Sensorineural hearing impairment; Skeletal muscle atrophy; Strabismus; Tremor; Tritanomaly; Visual impairment; Weak cry
OPHN1Xq1299.97%gene with protein product300127MRX60Attention deficit hyperactivity disorder; Autism; Cerebellar hypoplasia; Cryptorchidism; Deeply set eye; Delayed speech and language development; Disorganization of the anterior cerebellar vermis; Dysmetria; Enlarged cisterna magna; Frontal bossing; Gait ataxia; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypotelorism; Infantile onset; Intellectual disability; Long face; Long nose; Macrocephaly; Macrotia; Mandibular prognathia; Micropenis; Microphallus; Muscular hypotonia; Neurological speech impairment; Nystagmus; Prominent forehead; Prominent supraorbital ridges; Retrocerebellar cyst; Scrotal hypoplasia; Seizures; Short philtrum; Spasticity; Strabismus; Thin upper lip vermilion; X-linked recessive inheritanceDisorders of Sex Development
PDYN20p13100%gene with protein product131340SCA23Autosomal dominant inheritance; Babinski sign; Cerebellar atrophy; CNS demyelination; Dysarthria; Dysmetria; Gait ataxia; Hyperreflexia; Impaired vibration sensation in the lower limbs; Limb ataxia; Neuronal loss in central nervous system; Sensorimotor neuropathy; Slow progression; Slow saccadic eye movements
PEX1611p11.2100%gene with protein product603360Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar vermis atrophy; Clitoral hypertrophy; Cognitive impairment; Constipation; Constriction of peripheral visual field; Corneal opacity; Corpus callosum atrophy; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetria; Dysphagia; 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; Glossoptosis; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraparesis; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
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
PIK3R517p13.1100%gene with protein product611317Areflexia; Autosomal recessive inheritance; Cerebellar atrophy; Distal sensory impairment; Dysarthria; Dysmetria; Frequent falls; Hyporeflexia; Nystagmus; Oculomotor apraxia; Progressive; Slow saccadic eye movements
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
PLP1Xq22.299.97%gene with protein product300401SPG2, PLPAbnormal pyramidal signs; Abnormality of extrapyramidal motor function; Ataxia; Babinski sign; Bowel incontinence; Cerebral dysmyelination; Choreoathetosis; Degeneration of the lateral corticospinal tracts; Delayed speech and language development; Dysarthria; Dysmetria; Dysphagia; Dystonia; Failure to thrive; Flexion contracture; Generalized hypotonia; Global developmental delay; Head titubation; Hyperreflexia; Infantile onset; Intellectual disability; Juvenile onset; Lower limb muscle weakness; Lower limb spasticity; Microcephaly; Muscle weakness; Muscular hypotonia; Nystagmus; Optic atrophy; Pes cavus; Phenotypic variability; Progressive spastic quadriplegia; Psychomotor deterioration; Reduction of oligodendroglia; Rotary nystagmus; Scanning speech; Short stature; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraparesis; Spastic paraplegia; Spastic/hyperactive bladder; Spinocerebellar tract degeneration; Sudanophilic leukodystrophy; Tremor; X-linked recessive inheritance
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
PNPLA87q31.199.98%gene with protein product612123Autosomal recessive inheritance; Dysarthria; Dysmetria; Dystonia; Episodic vomiting; Focal seizures with impairment of consciousness or awareness; Generalized hypotonia; Gowers sign; Hemiparesis; Hyperalaninemia; Increased serum lactate; Increased serum pyruvate; Infantile onset; Lactic acidosis; Mitochondrial myopathy; Moderate sensorineural hearing impairment; Postnatal growth retardation; Progressive; Spasticity; Toe walking
POLR3A10q22.399.98%gene with protein product614258Abnormal upper motor neuron morphology; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; CNS hypomyelination; Delayed puberty; Drooling; Dysarthria; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Leukodystrophy; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Progressive; Short stature; Spasticity
POLR3B12q23.399.99%gene with protein product614366Abnormal upper motor neuron morphology; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; CNS hypomyelination; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Drooling; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Gynecomastia; Horizontal nystagmus; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Impaired horizontal smooth pursuit; Intellectual disability, mild; Intention tremor; Leukodystrophy; Micropenis; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Primary amenorrhea; Progressive; Short stature; Sparse axillary hair; Sparse pubic hair; Spasticity
POLR3B12q23.399.99%gene with protein product614366Abnormal upper motor neuron morphology; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; CNS hypomyelination; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Drooling; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Gynecomastia; Horizontal nystagmus; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Impaired horizontal smooth pursuit; Intellectual disability, mild; Intention tremor; Leukodystrophy; Micropenis; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Primary amenorrhea; Progressive; Short stature; Sparse axillary hair; Sparse pubic hair; Spasticity
PPP2R2B5q3299.99%gene with protein productXomeDxSlice is not appropriate.604325SCA12Abnormality of eye movement; Action tremor; Anxiety; Autosomal dominant inheritance; Axial dystonia; Cerebellar atrophy; Cerebral cortical atrophy; Delusions; Dementia; Depressivity; Dysarthria; Dysdiadochokinesis; Dysmetria; Facial myokymia; Head tremor; Hyperreflexia; Parkinsonism; Progressive cerebellar ataxia; Sensorimotor neuropathy
PRICKLE112q12100%gene with protein product608500Atonic seizures; Autosomal recessive inheritance; Babinski sign; Dysarthria; Dysmetria; EEG with polyspike wave complexes; Generalized myoclonic seizures; Intention tremor; Limb ataxia; Morning myoclonic jerks; Progressive; Sensory axonal neuropathy; Tremor
PRKCG19q13.42100%gene with protein product176980PKCG, SCA14Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Cerebellar atrophy; Depressivity; Dysarthria; Dysmetria; Dysphagia; Facial myokymia; Focal dystonia; Gait ataxia; Hyperreflexia; Impaired vibration sensation at ankles; Incomplete penetrance; Memory impairment; Mental deterioration; Nystagmus; Progressive cerebellar ataxia; Slow progression
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
RARS5q3499.65%gene with protein product107820Abnormality of extrapyramidal motor function; Autosomal recessive inheritance; Dysarthria; Dysmetria; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Intention tremor; Leukodystrophy; Microcephaly; Nystagmus; Variable expressivity
RFC27q11.2399.93%gene with protein product600404Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
SACS13q12.1299.99%gene with protein product604490Absent Achilles reflex; Autosomal recessive inheritance; Babinski sign; Cerebellar vermis atrophy; Decreased motor nerve conduction velocity; Decreased nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysmetria; Falls; Hammertoe; Hypermyelinated retinal nerve fibers; Hyperreflexia; Impaired smooth pursuit; Impaired vibration sensation in the lower limbs; Infantile onset; Intellectual disability; Loss of Purkinje cells in the cerebellar vermis; Nystagmus; Pes cavus; Progressive gait ataxia; Progressive truncal ataxia; Scanning speech; Spastic ataxia; Spasticity; Swan neck-like deformities of the fingers; Urinary urgency
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
SFXN410q26.11100%gene with protein product615564Autosomal recessive inheritance; Delayed speech and language development; Dysmetria; Generalized hypotonia; Increased serum lactate; Intellectual disability; Intellectual disability, mild; Intrauterine growth retardation; Lactic acidosis; Skeletal muscle atrophy; Tremor; Variable expressivity; Visual impairment
SLC9A11p36.1199.99%gene with protein product107310APNH, NHE1Action tremor; Autosomal recessive inheritance; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait ataxia; Limb ataxia; Motor delay; Progressive
SPART13q13.3100%gene with protein product607111SPG20Ankle clonus; Autosomal recessive inheritance; Babinski sign; Brachydactyly; Camptodactyly; Cerebellar atrophy; Childhood onset; Clinodactyly; Difficulty walking; Distal amyotrophy; Drooling; Dysarthria; Dysmetria; Emotional lability; Global developmental delay; Hammertoe; Hyperextensible hand joints; Hyperplasia of midface; Hyperreflexia; Hypertelorism; Intellectual disability, mild; Knee clonus; Kyphoscoliosis; Lower limb muscle weakness; Motor delay; Pes cavus; Short foot; Short stature; Spastic gait; Spastic paraparesis; Spastic paraplegia; Upper limb spasticity
SPTBN211q13.2100%gene with protein product604985SCA5Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Facial myokymia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Global developmental delay; Hyperreflexia; Impaired smooth pursuit; Impaired vibratory sensation; Incoordination; Infantile onset; Intellectual disability, mild; Intention tremor; Limb ataxia; Progressive cerebellar ataxia; Progressive gait ataxia; Slow progression; Slurred speech; Truncal ataxia
SPTBN211q13.2100%gene with protein product604985SCA5Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Facial myokymia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Global developmental delay; Hyperreflexia; Impaired smooth pursuit; Impaired vibratory sensation; Incoordination; Infantile onset; Intellectual disability, mild; Intention tremor; Limb ataxia; Progressive cerebellar ataxia; Progressive gait ataxia; Slow progression; Slurred speech; Truncal ataxia
SPTBN211q13.2100%gene with protein product604985SCA5Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cognitive impairment; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Facial myokymia; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Global developmental delay; Hyperreflexia; Impaired smooth pursuit; Impaired vibratory sensation; Incoordination; Infantile onset; Intellectual disability, mild; Intention tremor; Limb ataxia; Progressive cerebellar ataxia; Progressive gait ataxia; Slow progression; Slurred speech; Truncal ataxia
SQSTM15q35.3100%gene with protein product601530PDB3, OSILAbnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brain stem compression; Bulbar palsy; Cerebral cortical atrophy; Collectionism; Cranial nerve paralysis; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysdiadochokinesis; Dysgraphia; Dyslexia; Dysmetria; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Emotional blunting; Emotional lability; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Fractures of the long bones; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized muscle weakness; Heterogeneous; Hip flexor weakness; Hydroxyprolinuria; Hyperorality; Hyperreflexia; Hyporeflexia; Hypothyroidism; Inappropriate behavior; Increased susceptibility to fractures; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Language impairment; Limb ataxia; Limited shoulder movement; Limited wrist extension; Long-tract signs; Loss of speech; Memory impairment; Mental deterioration; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Mutism; Neurodegeneration; Nystagmus; Oculomotor apraxia; Osteolysis; Osteosarcoma; Pain; Paralysis; Paraparesis; Patchy osteosclerosis; Perseveration; Personality changes; Phenotypic variability; Poor speech; Premature loss of teeth; Progressive; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Steppage gait; Stereotypy; Tetraparesis; Thickened nuchal skin fold; Tibialis muscle weakness; Tremor; Variable expressivity; Vertebral compression fractures; Vertical supranuclear gaze palsy; Xerostomia
SYNE16q25.2100%gene with protein product608441C6orf98Adult onset; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Childhood onset; Dysarthria; Dysmetria; Elevated serum creatine phosphokinase; Gait ataxia; Left ventricular septal hypertrophy; Limb ataxia; Muscular dystrophy; Neck muscle weakness; Nystagmus; Phenotypic variability; Proximal amyotrophy; Proximal muscle weakness; Slow progression
TBL27q11.23100%gene with protein product605842Abdominal pain; Abnormality of dental enamel; Abnormality of extrapyramidal motor function; Abnormality of pelvic girdle bone morphology; Abnormality of the fingernails; Abnormality of the neck; Anxiety; Arthralgia; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad forehead; Cerebral ischemia; Chronic otitis media; Clinodactyly of the 5th finger; Coarse facial features; Colonic diverticula; Constipation; Dental malocclusion; Depressivity; Down-sloping shoulders; Dysgraphia; Dysmetria; Elevated serum creatine phosphokinase; Elfin facies; Epicanthus; Everted lower lip vermilion; Failure to thrive in infancy; Gait imbalance; Genu valgum; Hallux valgus; High forehead; High hypermetropia; Hoarse voice; Hyperacusis; Hypercalcemia; Hypercalciuria; Hyperlordosis; Hyperreflexia; Hypodontia; Hypoplasia of the zygomatic bone; Hypoplastic toenails; Inguinal hernia; Insomnia; Intellectual disability; Joint stiffness; Kyphosis; Long philtrum; Low-set, posteriorly rotated ears; Macroglossia; Macrotia; Microcephaly; Microdontia; Micrognathia; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Narrow face; Nausea and vomiting; Nystagmus-induced head nodding; Obesity; Obsessive-compulsive behavior; Open bite; Overfriendliness; Pelvic kidney; Periorbital edema; Peripheral pulmonary artery stenosis; Pes planus; Phonophobia; Pointed chin; Proteinuria; Protruding ear; Pulmonic stenosis; Redundant skin; Renal insufficiency; Renovascular hypertension; Sacral dimple; Sensorineural hearing impairment; Short nose; Short stature; Spasticity; Strabismus; Stroke; Supravalvular aortic stenosis; Thick lower lip vermilion; Tremor; Visual impairment; Wide mouth; Wide nasal bridge
TBP6q27100%gene with protein productXomeDxSlice is not appropriate.600075GTF2D1, SCA17Abnormal pyramidal signs; Aggressive behavior; Apraxia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Behavioral abnormality; Blepharospasm; Bradykinesia; Broad-based gait; Cerebellar atrophy; Cerebellar Purkinje layer atrophy; Chorea; Confusion; Depressivity; Diffuse cerebral atrophy; Dysarthria; Dysmetria; Dysphagia; Dystonia; Frontal lobe dementia; Frontal release signs; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Generalized cerebral atrophy/hypoplasia; Gliosis; Hallucinations; Impaired pursuit initiation and maintenance; Intention tremor; Lack of insight; Limb ataxia; Mental deterioration; Mutism; Myoclonus; Neuronal loss in central nervous system; Paranoia; Parkinsonism; Positive Romberg sign; Progressive; Rigidity; Seizures; Spasticity; Torticollis; Urinary incontinenceDisorders of Sex Development; Ectodermal Dysplasia
TCTN212q24.3199.98%gene with protein product613846C12orf38Abdominal distention; Abnormal chorioretinal morphology; Absent speech; Anophthalmia; Aplasia/Hypoplasia of the iris; Apnea; Ataxia; Autosomal recessive inheritance; Biparietal narrowing; Broad forehead; Cataract; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Cleft palate; Cleft upper lip; Congenital hepatic fibrosis; Cryptorchidism; Depressed nasal ridge; Dysmetria; Encephalocele; Episodic tachypnea; Feeding difficulties in infancy; Full cheeks; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperechogenic kidneys; Hypermetropia; Hyperreflexia; Hypertelorism; Infantile onset; Intellectual disability; Lobar holoprosencephaly; Long face; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Microcornea; Micrognathia; Microphthalmia; Multicystic kidney dysplasia; Muscular hypotonia; Nystagmus; Oculomotor apraxia; Oligohydramnios; Optic atrophy; Pachygyria; Polydactyly; Polymicrogyria; Postaxial foot polydactyly; Postaxial hand polydactyly; Sclerocornea; Short neck; Short nose; Sloping forehead; Spasticity; Talipes; Talipes equinovarusHeterotaxy
TECPR214q32.33100%gene with protein product615000KIAA0329Areflexia; Autosomal recessive inheritance; Brachycephaly; Broad neck; Central apnea; Cerebral atrophy; Dental crowding; Dysarthria; Dysmetria; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hypomimic face; Hypoplasia of the corpus callosum; Low anterior hairline; Microcephaly; Round face; Short neck; Short stature; Spastic gait; Spastic paraplegia
TGM620p13100%gene with protein product613900TGM3LAbnormality of the orbital region; Adult onset; Autosomal dominant inheritance; Babinski sign; Cerebellar atrophy; Difficulty walking; Dysarthria; Dysmetria; Gait ataxia; Hyperreflexia; Incoordination; Intention tremor; Limb ataxia; Neck muscle weakness; Progressive cerebellar ataxia; Slow progression; Torticollis
TGM620p13100%gene with protein product613900TGM3LAbnormality of the orbital region; Adult onset; Autosomal dominant inheritance; Babinski sign; Cerebellar atrophy; Difficulty walking; Dysarthria; Dysmetria; Gait ataxia; Hyperreflexia; Incoordination; Intention tremor; Limb ataxia; Neck muscle weakness; Progressive cerebellar ataxia; Slow progression; Torticollis
TPP111p15.4100%gene with protein product607998CLN2, SCAR7Abnormal nervous system electrophysiology; Ataxia; Autosomal recessive inheritance; Babinski sign; Broad-based gait; Cerebellar atrophy; Cerebral atrophy; Clumsiness; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material; Delayed speech and language development; Developmental regression; Difficulty walking; Diplopia; Dysarthria; Dysmetria; Dysmetric saccades; Horizontal nystagmus; Hyperreflexia; Impaired vibratory sensation; Increased extraneuronal autofluorescent lipopigment; Increased neuronal autofluorescent lipopigment; Limb ataxia; Myoclonus; Oculomotor apraxia; Progressive cerebellar ataxia; Progressive gait ataxia; Progressive visual loss; Retinal degeneration; Saccadic smooth pursuit; Scanning speech; Seizures; Undetectable electroretinogram
TTC1917p12100%gene with protein product613814Aggressive behavior; Anxiety; Apraxia; Autosomal recessive inheritance; Axonal degeneration; Bradykinesia; Cerebellar atrophy; Cerebral atrophy; Cognitive impairment; Depressivity; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphonia; Dystonia; Hallucinations; Incoordination; Muscle weakness; Neurodegeneration; Nystagmus; Obsessive-compulsive behavior; Olivopontocerebellar atrophy; Phenotypic variability; Psychosis; Skeletal muscle atrophy; Spastic paraparesis; Tremor
TTPA8q12.3100%gene with protein product600415AVEDAbnormal pyramidal signs; Areflexia; Ataxia; Autosomal recessive inheritance; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait disturbance; Hypercholesterolemia; Hypertriglyceridemia; Increased circulating low-density lipoprotein levels; Muscle weakness; Nyctalopia; Nystagmus; Pes cavus; Scoliosis; Sensory neuropathy; Tendon xanthomatosis; Vitamin E deficiency; Xanthelasma
UCHL14p13100%gene with protein product191342PARK5Ankle clonus; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral atrophy; Dysmetria; Fasciculations; Flexion contracture; Head titubation; Myokymia; Myopia; Neurodegeneration; Nystagmus; Optic atrophy; Pes cavus; Pes planus; Progressive; Progressive visual loss; Spastic paraplegia; Tetraparesis
VLDLR9p24.2100%gene with protein product192977Abnormality of metabolism/homeostasis; Ataxia; Autosomal recessive inheritance; Broad-based gait; Cataract; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral palsy; Congenital onset; Cortical gyral simplification; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the brainstem; Intellectual disability; Intention tremor; Muscular hypotonia; Nonprogressive; Pachygyria; Pes planus; Poor speech; Seizures; Short stature; Skeletal muscle atrophy; Strabismus; Truncal ataxia
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
WDR8117p13.3100%gene with protein product614218Abnormality of the neck; Aplasia of the inferior half of the cerebellar vermis; Ataxia; Atrophy of the dentate nucleus; Autosomal recessive inheritance; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral palsy; Coarse facial features; Delayed speech and language development; Dysarthria; Dysdiadochokinesis; Dysmetria; Gait disturbance; Global brain atrophy; Global developmental delay; Hirsutism; Hyperreflexia; Hypoplasia of the corpus callosum; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Muscular hypotonia; Seizures; Short foot; Short palm; Short stature; Skeletal muscle atrophy; Small hand; Strabismus; Thoracic kyphosis; Thoracic scoliosis; Tremor; Truncal ataxia
XRCC45q14.2100%gene with protein product194363Abnormality of chromosome stability; Abnormality of lipid metabolism; Acanthosis nigricans; Acute leukemia; Autosomal recessive inheritance; Biparietal narrowing; Bird-like facies; Brachycephaly; Broad nasal tip; Broad-based gait; Cerebellar vermis atrophy; Cognitive impairment; Convex nasal ridge; Cortical gyral simplification; Cryptorchidism; Cutaneous photosensitivity; Deeply set eye; Delayed speech and language development; Diabetes mellitus; Dysarthria; Dysdiadochokinesis; Dysmetria; Ectopic kidney; Epicanthus; Erythema; Global developmental delay; Growth delay; Hepatic steatosis; High forehead; High pitched voice; Hypertriglyceridemia; Hypotelorism; Hypothyroidism; Inguinal hernia; Insulin resistance; Insulin-resistant diabetes mellitus; Intellectual disability; Intrauterine growth retardation; Large beaked nose; Limb undergrowth; Long face; Long nose; Low anterior hairline; Lymphoma; Lymphopenia; Malar prominence; Microcephaly; Micrognathia; Micropenis; Misalignment of teeth; Nystagmus; Pancytopenia; Primary gonadal insufficiency; Prominent nasal bridge; Renal hypoplasia; Sensory neuropathy; Severe combined immunodeficiency; Severe short-limb dwarfism; Short chin; Short stature; Sloping forehead; Telecanthus; Thin vermilion border; Triangular face; Unilateral renal agenesis; Upslanted palpebral fissure; Ventriculomegaly; Wide nasal bridgeObesity
YME1L110p12.199.61%gene with protein product607472Amblyopia; Autosomal recessive inheritance; Brain atrophy; Cerebellar hypoplasia; Dysmetria; Facial diplegia; Global developmental delay; Hyperactivity; Hyperkinesis; Hypermetropia; Infantile onset; Intellectual disability; Leukoencephalopathy; Macrocephaly; Macrotia; Microcephaly; Midface retrusion; Myopia; Optic atrophy; Short stature; Strabismus; Visual impairment


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


  SUGGESTED CUSTOM SLICES  

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

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