XomeDxSlice Tool

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

INSTRUCTIONS (AND TIPS)

ENTER GENES BELOW AND CLICK "ADD GENES TO SLICE"

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SEARCH BY GENE SYMBOL OR PHENOTYPE (HPO TERM)

You may also use this search to review average exome sequencing coverage by entering the gene symbol below.

SELECTED GENES FOR YOUR SLICE

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Phenotypes
Memory impairment

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCA719p13.3100%gene with protein product605414Abnormal social behavior; Agitation; Cerebral cortical atrophy; Confusion; Deposits immunoreactive to beta-amyloid protein; Disinhibition; Hallucinations; Hypertonia; Language impairment; Memory impairment; Myoclonus; Neurofibrillary tangles; Parkinsonism; Seizures
ADA222q11.199.99%gene with protein productFormer name = CECR1607575IDGFL, CECR1Abdominal pain; Agitation; Amaurosis fugax; Antiphospholipid antibody positivity; Aphasia; Arterial stenosis; Arthritis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Behavioral abnormality; Cutis marmorata; Dementia; Developmental regression; Dilatation; Dysarthria; Elevated hepatic transaminases; Erythema nodosum; Facial palsy; Fever; Headache; Hemiparesis; Hemiplegia; Hepatomegaly; Hypertension; Immunodeficiency; Memory impairment; Mental deterioration; Migraine; Motor delay; Muscle weakness; Myalgia; Ophthalmoplegia; Panniculitis; Peripheral neuropathy; Progressive; Purpura; Raynaud phenomenon; Seizures; Splenomegaly; Sporadic; Stroke; Thromboembolic stroke; Tremor; Variable expressivity; Vertigo; Visual field defectAutoimmune Disorders
APP21q21.3100%gene with protein product104760AD1Abnormal social behavior; Agitation; Alzheimer disease; Autosomal dominant inheritance; Behavioral abnormality; Cerebellar hemorrhage; Cerebral amyloid angiopathy; Cerebral calcification; Cerebral cortical atrophy; Cerebral hemorrhage; Cerebral ischemia; Coma; Confusion; Decreased level of GABA in serum; Dementia; Deposits immunoreactive to beta-amyloid protein; Disinhibition; Dysphagia; Febrile seizures; Gait disturbance; Global developmental delay; Hallucinations; Headache; Heterogeneous; Hypertonia; Intellectual disability; Language impairment; Long-tract signs; Memory impairment; Migraine; Myoclonus; Neurofibrillary tangles; Paresthesia; Parkinsonism; Recurrent cerebral hemorrhage; Seizures; Sensory impairment; Stroke; Tortuous cerebral arteriesObesity
APP21q21.3100%gene with protein product104760AD1Abnormal social behavior; Agitation; Alzheimer disease; Autosomal dominant inheritance; Behavioral abnormality; Cerebellar hemorrhage; Cerebral amyloid angiopathy; Cerebral calcification; Cerebral cortical atrophy; Cerebral hemorrhage; Cerebral ischemia; Coma; Confusion; Decreased level of GABA in serum; Dementia; Deposits immunoreactive to beta-amyloid protein; Disinhibition; Dysphagia; Febrile seizures; Gait disturbance; Global developmental delay; Hallucinations; Headache; Heterogeneous; Hypertonia; Intellectual disability; Language impairment; Long-tract signs; Memory impairment; Migraine; Myoclonus; Neurofibrillary tangles; Paresthesia; Parkinsonism; Recurrent cerebral hemorrhage; Seizures; Sensory impairment; Stroke; Tortuous cerebral arteriesObesity
C9ORF729p21.299.97%gene with protein productXomeDxSlice is not appropriate.614260Abnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Cerebral atrophy; Collectionism; Delusions; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Extrapyramidal dyskinesia; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Muscle weakness; Neurodegeneration; Neuronal loss in central nervous system; Pain; Paralysis; Paraparesis; Parkinsonism; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Restlessness; Restrictive behavior; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Tetraparesis; Thickened nuchal skin fold; Xerostomia
C9ORF729p21.299.97%gene with protein productXomeDxSlice is not appropriate.614260Abnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Cerebral atrophy; Collectionism; Delusions; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Extrapyramidal dyskinesia; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Muscle weakness; Neurodegeneration; Neuronal loss in central nervous system; Pain; Paralysis; Paraparesis; Parkinsonism; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Restlessness; Restrictive behavior; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Tetraparesis; Thickened nuchal skin fold; Xerostomia
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
CHMP2B3p11.2100%gene with protein product609512Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Areflexia; Astrocytosis; Autosomal dominant inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Collectionism; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal release signs; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Grammar-specific speech disorder; Hyperorality; Hyperreflexia; Hyporeflexia; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Mutism; Myoclonus; Neurodegeneration; Neuronal loss in central nervous system; Orofacial dyskinesia; Pain; Paralysis; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restlessness; Restrictive behavior; Rigidity; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Xerostomia
CHMP2B3p11.2100%gene with protein product609512Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Areflexia; Astrocytosis; Autosomal dominant inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Collectionism; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal release signs; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Grammar-specific speech disorder; Hyperorality; Hyperreflexia; Hyporeflexia; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Mutism; Myoclonus; Neurodegeneration; Neuronal loss in central nervous system; Orofacial dyskinesia; Pain; Paralysis; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restlessness; Restrictive behavior; Rigidity; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Xerostomia
CHMP2B3p11.2100%gene with protein product609512Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Areflexia; Astrocytosis; Autosomal dominant inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Collectionism; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal release signs; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Grammar-specific speech disorder; Hyperorality; Hyperreflexia; Hyporeflexia; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Mutism; Myoclonus; Neurodegeneration; Neuronal loss in central nervous system; Orofacial dyskinesia; Pain; Paralysis; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restlessness; Restrictive behavior; Rigidity; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Xerostomia
CSF1R5q32100%gene with protein product164770FMSAbnormality of the cerebral white matter; Adult onset; Apraxia; Autosomal dominant inheritance; Bradykinesia; CNS demyelination; Depressivity; Frontal lobe dementia; Gliosis; Hyperreflexia; Leukoencephalopathy; Memory impairment; Mutism; Neuronal loss in central nervous system; Postural instability; Rapidly progressive; Rigidity; Shuffling gait; Spasticity
DNMT119p13.299.61%gene with protein product126375DNMTAdult onset; Apathy; Ataxia; Autosomal dominant inheritance; Cataplexy; Cerebellar atrophy; Cerebral atrophy; Decreased number of peripheral myelinated nerve fibers; Dementia; Depressivity; Excessive daytime sleepiness; Excessive daytime somnolence; Hyperreflexia; Hyporeflexia; Impulsivity; Irritability; Memory impairment; Narcolepsy; Osteomyelitis; Primitive reflex; Progressive; Sensorineural hearing impairment; Sensory neuropathy; Spasticity
DNMT119p13.299.61%gene with protein product126375DNMTAdult onset; Apathy; Ataxia; Autosomal dominant inheritance; Cataplexy; Cerebellar atrophy; Cerebral atrophy; Decreased number of peripheral myelinated nerve fibers; Dementia; Depressivity; Excessive daytime sleepiness; Excessive daytime somnolence; Hyperreflexia; Hyporeflexia; Impulsivity; Irritability; Memory impairment; Narcolepsy; Osteomyelitis; Primitive reflex; Progressive; Sensorineural hearing impairment; Sensory neuropathy; Spasticity
ECM11q21.2100%gene with protein product602201Abnormal blistering of the skin; Abnormality of the gingiva; Abnormality of the skin; Acne; Aggressive behavior; Alopecia of scalp; Autosomal recessive inheritance; Bilateral intracranial calcifications; Dysphagia; Dystonia; Hallucinations; High palate; Hoarse voice; Hyperkeratosis; Memory impairment; Microglossia; Papule; Paranoia; Patchy alopecia; Pustule; Recurrent respiratory infections; Scarring; Seizures; Subcutaneous nodule; Thick lower lip vermilion; Tongue nodules; Verrucae
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
FGF1413q33.1100%gene with protein product601515Autosomal dominant inheritance; Dysmetric saccades; Head tremor; Heterogeneous; Impaired smooth pursuit; Intellectual disability, mild; Memory impairment; Sensory axonal neuropathy; Slow progression; Strabismus; Truncal ataxia
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
GNE9p13.3100%gene with protein product603824IBM22-3 toe syndactyly; Abnormality of metabolism/homeostasis; Abnormality of the mitochondrion; Absent Achilles reflex; Adult onset; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Cholelithiasis; Coarse facial features; Deposits immunoreactive to beta-amyloid protein; Distal amyotrophy; Distal muscle weakness; Dysostosis multiplex; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Epicanthus; Episodic abdominal pain; Expressive language delay; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Frontal bossing; Gait disturbance; Generalized hirsutism; Generalized hypotonia; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; High palate; High, narrow palate; Hip flexor weakness; Hoarse voice; Hyperkinesis; Hypertelorism; Hypoplastic nipples; Hypothyroidism; Increased variability in muscle fiber diameter; Inguinal hernia; Intellectual disability, mild; Joint hypermobility; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limited shoulder movement; Limited wrist extension; Long hallux; Long philtrum; Low posterior hairline; Low-set ears; Memory impairment; Mildly elevated creatine phosphokinase; Muscle fiber inclusion bodies; Periorbital fullness; Prolonged partial thromboplastin time; Prolonged prothrombin time; Prominent forehead; Protuberant abdomen; Proximal muscle weakness; Rimmed vacuoles; Scoliosis; Seizures; Shoulder girdle muscle weakness; Sleep apnea; Smooth philtrum; Spinal deformities; Splenomegaly; Steppage gait; Synophrys; Thin upper lip vermilion; Thoracic hypoplasia; Tibialis muscle weakness; Upper airway obstruction; Wide nasal bridgeBone Marrow Failure Syndromes ; Rhabdomyolysis
GRN17q21.3199.99%gene with protein product138945Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Aggressive behavior; Agitation; Alexia; Anxiety; Apathy; Aphasia; Apraxia; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral cortical atrophy; Collectionism; Depressivity; Dilation of lateral ventricles; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized myoclonic seizures; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypersexuality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Mutism; Neuronal loss in central nervous system; Optic atrophy; Parkinsonism; Perseveration; Personality changes; Polyphagia; Poor speech; Progressive language deterioration; Rapidly progressive; Repetitive compulsive behavior; Restlessness; Restrictive behavior; Retinal dystrophy; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Visual impairment
GRN17q21.3199.99%gene with protein product138945Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Aggressive behavior; Agitation; Alexia; Anxiety; Apathy; Aphasia; Apraxia; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral cortical atrophy; Collectionism; Depressivity; Dilation of lateral ventricles; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized myoclonic seizures; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypersexuality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Mutism; Neuronal loss in central nervous system; Optic atrophy; Parkinsonism; Perseveration; Personality changes; Polyphagia; Poor speech; Progressive language deterioration; Rapidly progressive; Repetitive compulsive behavior; Restlessness; Restrictive behavior; Retinal dystrophy; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Visual impairment
GRN17q21.3199.99%gene with protein product138945Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Aggressive behavior; Agitation; Alexia; Anxiety; Apathy; Aphasia; Apraxia; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebellar atrophy; Cerebral cortical atrophy; Collectionism; Depressivity; Dilation of lateral ventricles; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Frontotemporal cerebral atrophy; Frontotemporal dementia; Generalized myoclonic seizures; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypersexuality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Mutism; Neuronal loss in central nervous system; Optic atrophy; Parkinsonism; Perseveration; Personality changes; Polyphagia; Poor speech; Progressive language deterioration; Rapidly progressive; Repetitive compulsive behavior; Restlessness; Restrictive behavior; Retinal dystrophy; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Visual impairment
MAPT17q21.31100%gene with protein product157140DDPAC, MAPTLAbnormal brain FDG positron emission tomography; Abnormal pyramidal signs; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Akinesia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Axial dystonia; Blurred vision; Bradykinesia; Collectionism; Dementia; Depressivity; Diplopia; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Eyelid apraxia; Falls; Frontal lobe dementia; Frontolimbic dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait imbalance; Gliosis; Grammar-specific speech disorder; Granulovacuolar degeneration; Heterogeneous; Hyperorality; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Kyphoscoliosis; Lack of insight; Language impairment; Loss of speech; Memory impairment; Morphological abnormality of the pyramidal tract; Mutism; Neurofibrillary tangles; Neuronal loss in central nervous system; Ophthalmoparesis; Parkinsonism; Perseveration; Personality changes; Photophobia; Polyphagia; Poor speech; Primitive reflex; Restlessness; Restrictive behavior; Retrocollis; Rigidity; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Supranuclear gaze palsy; Temporal cortical atrophy; Thickened nuchal skin fold; Tremor
MAPT17q21.31100%gene with protein product157140DDPAC, MAPTLAbnormal brain FDG positron emission tomography; Abnormal pyramidal signs; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Akinesia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Axial dystonia; Blurred vision; Bradykinesia; Collectionism; Dementia; Depressivity; Diplopia; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Eyelid apraxia; Falls; Frontal lobe dementia; Frontolimbic dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait imbalance; Gliosis; Grammar-specific speech disorder; Granulovacuolar degeneration; Heterogeneous; Hyperorality; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Kyphoscoliosis; Lack of insight; Language impairment; Loss of speech; Memory impairment; Morphological abnormality of the pyramidal tract; Mutism; Neurofibrillary tangles; Neuronal loss in central nervous system; Ophthalmoparesis; Parkinsonism; Perseveration; Personality changes; Photophobia; Polyphagia; Poor speech; Primitive reflex; Restlessness; Restrictive behavior; Retrocollis; Rigidity; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Supranuclear gaze palsy; Temporal cortical atrophy; Thickened nuchal skin fold; Tremor
MAPT17q21.31100%gene with protein product157140DDPAC, MAPTLAbnormal brain FDG positron emission tomography; Abnormal pyramidal signs; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Akinesia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Axial dystonia; Blurred vision; Bradykinesia; Collectionism; Dementia; Depressivity; Diplopia; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Eyelid apraxia; Falls; Frontal lobe dementia; Frontolimbic dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait imbalance; Gliosis; Grammar-specific speech disorder; Granulovacuolar degeneration; Heterogeneous; Hyperorality; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Kyphoscoliosis; Lack of insight; Language impairment; Loss of speech; Memory impairment; Morphological abnormality of the pyramidal tract; Mutism; Neurofibrillary tangles; Neuronal loss in central nervous system; Ophthalmoparesis; Parkinsonism; Perseveration; Personality changes; Photophobia; Polyphagia; Poor speech; Primitive reflex; Restlessness; Restrictive behavior; Retrocollis; Rigidity; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Supranuclear gaze palsy; Temporal cortical atrophy; Thickened nuchal skin fold; Tremor
NOTCH319p13.1299.94%gene with protein product600276CADASILAbnormal electroretinogram; Abnormal form of the vertebral bodies; Abnormality of the hair; Abnormality of the metaphysis; Abnormality of the middle ear ossicles; Abnormality of the musculature; Abnormality of the rib cage; Abnormality of the skin; Abnormality of the skull; Abnormality of the thorax; Abnormality of visual evoked potentials; Adult onset; Amaurosis fugax; Aphasia; Arachnoid cyst; Arnold-Chiari type I malformation; Atresia of the external auditory canal; Autosomal dominant inheritance; Biconcave vertebral bodies; Bone cyst; Cerebral cortical atrophy; Cerebral ischemia; Chondrocalcinosis; Coarse hair; Coma; Conductive hearing impairment; Confusion; Cranial nerve paralysis; Craniofacial hyperostosis; Cryptorchidism; Dementia; Dental crowding; Depressivity; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; Dural ectasia; EEG abnormality; Elevated serum creatine phosphokinase; Fever; Gait disturbance; Generalized hypotonia; Gingival fibromatosis; Hemiplegia; High palate; High, narrow palate; Hypertelorism; Impaired pain sensation; Inguinal hernia; Joint hyperflexibility; Joint hypermobility; Kyphosis; Leukoencephalopathy; Long philtrum; Low posterior hairline; Low-set ears; Malar flattening; Memory impairment; Meningocele; Micrognathia; Migraine; Motor delay; Narrow face; Neoplasm of the lung; Neoplasm of the skin; Nonarteritic anterior ischemic optic neuropathy; Patent ductus arteriosus; Pectus excavatum; Platybasia; Posteriorly rotated ears; Prominent metopic ridge; Pseudobulbar paralysis; Ptosis; Recurrent subcortical infarcts; Retinal arteriolar tortuosity; Sclerosis of skull base; Scoliosis; Seizures; Sensory neuropathy; Short nasal bridge; Short neck; Short stature; Smooth philtrum; Spasticity; Stroke; Subcortical dementia; Subcutaneous nodule; Syringomyelia; Umbilical hernia; Urinary incontinence; Varicose veins; Vertebral fusion; Visual impairment; Wormian bones
PAH12q23.2100%gene with protein product612349Aggressive behavior; Anxiety; Attention deficit hyperactivity disorder; Autism; Autosomal recessive inheritance; Blue irides; Cataract; Cerebral calcification; Depressivity; Dry skin; Eczema; Fair hair; Generalized hypopigmentation; Global developmental delay; Growth delay; Hyperphenylalaninemia; Hyperreflexia; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Increased level of hippuric acid in urine; Intellectual disability; Intellectual disability, severe; Irritability; Maternal hyperphenylalaninemia; Memory impairment; Microcephaly; Nausea and vomiting; Obsessive-compulsive behavior; Phenylpyruvic acidemia; Psychosis; Reduced phenylalanine hydroxylase activity; Scleroderma; Seizures; Self-mutilation; Tremor
PDGFB22q13.1100%gene with protein product190040SISAbnormality of neuronal migration; Adult onset; Anxiety; Apathy; Athetosis; Autosomal dominant inheritance; Basal ganglia calcification; Bradykinesia; Calcification of the small brain vessels; Cerebral calcification; Chorea; Corneal opacity; Dementia; Dense calcifications in the cerebellar dentate nucleus; Depressivity; Dysarthria; Dysdiadochokinesis; Dyskinesia; Dystonia; Erythema; Fibrosarcoma; Gait disturbance; Hepatomegaly; Hyperreflexia; Incomplete penetrance; Intrauterine growth retardation; Limb dysmetria; Mask-like facies; Memory impairment; Meningioma; Mental deterioration; Microcephaly; Migraine; Motor tics; Neoplasm of the skin; Parkinsonism; Postural instability; Progressive; Psychosis; Rigidity; Seizures; Skin ulcer; Subcutaneous hemorrhage; Subcutaneous nodule; Thickened skin; Thrombocytopenia; Tremor; Urinary incontinence; Ventriculomegaly; Vertigo
PDGFRB5q3299.97%gene with protein product173410PDGFRAbnormality of connective tissue; Abnormality of neuronal migration; Abnormality of the hair; Abnormality of the metaphysis; Abnormality of the musculature; Abnormality of the skull; Abnormality of the thorax; Adult onset; Athetosis; Autosomal dominant inheritance; Basal ganglia calcification; Bone cyst; Brachydactyly; Bradykinesia; Calcification of the small brain vessels; Cerebral calcification; Chondrocalcinosis; Chorea; Corneal opacity; Delayed cranial suture closure; Delayed eruption of teeth; Delayed skeletal maturation; Dense calcifications in the cerebellar dentate nucleus; Depressivity; Downslanted palpebral fissures; Dysarthria; Dysdiadochokinesis; Dystonia; Eosinophilia; Fibroma; Fragile skin; Gait disturbance; Gingival fibromatosis; Growth abnormality; Hepatomegaly; Hyperextensible skin; Hyperkeratosis; Hypermetropia; Hyperreflexia; Hypoplasia of the maxilla; Increased thyroid-stimulating hormone level; Intrauterine growth retardation; Limb dysmetria; Lipoatrophy; Long foot; Malignant eosinophil proliferation; Mask-like facies; Memory impairment; Mental deterioration; Microcephaly; Micrognathia; Midface retrusion; Myeloproliferative disorder; Narrow nose; Neoplasm of the lung; Neoplasm of the skin; Osteolytic defects of the phalanges of the hand; Osteopenia; Overgrowth; Parkinsonism; Pointed chin; Postural instability; Progressive; Progressive neurologic deterioration; Prominent forehead; Prominent nasal bridge; Prominent supraorbital ridges; Proptosis; Psychosis; Ptosis; Rigidity; Seizures; Sensorineural hearing impairment; Slender long bone; Sparse hair; Subcutaneous hemorrhage; Subcutaneous nodule; Thin calvarium; Thin skin; Thin upper lip vermilion; Thin vermilion border; Thoracolumbar scoliosis; Thrombocytopenia; Tremor; Urinary incontinence; Ventriculomegaly; Wide nasal bridge
PRKAR1B7p22.3100%gene with protein product176911Abnormal neuron morphology; Anxiety; Apathy; Bradykinesia; Diffuse cerebral atrophy; Falls; Frontotemporal dementia; Impaired visuospatial constructive cognition; Inappropriate behavior; Inertia; Language impairment; Memory impairment; Motor deterioration; Muscle stiffness; Parkinsonism; Postural instability; Short attention span; Short stepped shuffling gait
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
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
PSEN114q24.2100%gene with protein product104311AD3Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Acne inversa; Adult onset; Aggressive behavior; Agitation; Alexia; Alzheimer disease; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Babinski sign; Cerebral cortical atrophy; Chronic furunculosis; Collectionism; Confusion; Congestive heart failure; Dementia; Deposits immunoreactive to beta-amyloid protein; Depressivity; Dilated cardiomyopathy; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gliosis; Grammar-specific speech disorder; Hallucinations; Heterogeneous; Hyperorality; Hypertonia; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Lack of insight; Language impairment; Loss of speech; Lower limb hyperreflexia; Memory impairment; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perifolliculitis; Perseveration; Personality changes; Polyphagia; Poor speech; Primitive reflex; Rapidly progressive; Recurrent cutaneous abscess formation; Restlessness; Restrictive behavior; Seizures; Spastic tetraparesis; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Syncope; Temporal cortical atrophy; Thickened nuchal skin fold
PSEN114q24.2100%gene with protein product104311AD3Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Acne inversa; Adult onset; Aggressive behavior; Agitation; Alexia; Alzheimer disease; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Babinski sign; Cerebral cortical atrophy; Chronic furunculosis; Collectionism; Confusion; Congestive heart failure; Dementia; Deposits immunoreactive to beta-amyloid protein; Depressivity; Dilated cardiomyopathy; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gliosis; Grammar-specific speech disorder; Hallucinations; Heterogeneous; Hyperorality; Hypertonia; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Lack of insight; Language impairment; Loss of speech; Lower limb hyperreflexia; Memory impairment; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perifolliculitis; Perseveration; Personality changes; Polyphagia; Poor speech; Primitive reflex; Rapidly progressive; Recurrent cutaneous abscess formation; Restlessness; Restrictive behavior; Seizures; Spastic tetraparesis; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Syncope; Temporal cortical atrophy; Thickened nuchal skin fold
PSEN114q24.2100%gene with protein product104311AD3Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Acne inversa; Adult onset; Aggressive behavior; Agitation; Alexia; Alzheimer disease; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Babinski sign; Cerebral cortical atrophy; Chronic furunculosis; Collectionism; Confusion; Congestive heart failure; Dementia; Deposits immunoreactive to beta-amyloid protein; Depressivity; Dilated cardiomyopathy; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gliosis; Grammar-specific speech disorder; Hallucinations; Heterogeneous; Hyperorality; Hypertonia; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Lack of insight; Language impairment; Loss of speech; Lower limb hyperreflexia; Memory impairment; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perifolliculitis; Perseveration; Personality changes; Polyphagia; Poor speech; Primitive reflex; Rapidly progressive; Recurrent cutaneous abscess formation; Restlessness; Restrictive behavior; Seizures; Spastic tetraparesis; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Syncope; Temporal cortical atrophy; Thickened nuchal skin fold
PSEN114q24.2100%gene with protein product104311AD3Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Acne inversa; Adult onset; Aggressive behavior; Agitation; Alexia; Alzheimer disease; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Babinski sign; Cerebral cortical atrophy; Chronic furunculosis; Collectionism; Confusion; Congestive heart failure; Dementia; Deposits immunoreactive to beta-amyloid protein; Depressivity; Dilated cardiomyopathy; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gliosis; Grammar-specific speech disorder; Hallucinations; Heterogeneous; Hyperorality; Hypertonia; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Lack of insight; Language impairment; Loss of speech; Lower limb hyperreflexia; Memory impairment; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perifolliculitis; Perseveration; Personality changes; Polyphagia; Poor speech; Primitive reflex; Rapidly progressive; Recurrent cutaneous abscess formation; Restlessness; Restrictive behavior; Seizures; Spastic tetraparesis; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Syncope; Temporal cortical atrophy; Thickened nuchal skin fold
PSEN21q42.1399.99%gene with protein product600759AD4Abnormal social behavior; Agitation; Alzheimer disease; Autosomal dominant inheritance; Cerebral amyloid angiopathy; Cerebral cortical atrophy; Confusion; Congestive heart failure; Dementia; Deposits immunoreactive to beta-amyloid protein; Dilated cardiomyopathy; Disinhibition; Hallucinations; Hypertonia; Language impairment; Memory impairment; Middle age onset; Myoclonus; Neurofibrillary tangles; Parkinsonism; Seizures; Sleep-wake cycle disturbance; Syncope
SIM16q16.3100%gene with protein product603128Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Brachycephaly; Decreased resting energy expenditure; Delayed speech and language development; Dysautonomia; EEG abnormality; Epicanthus; Full cheeks; Global developmental delay; Hyperinsulinemia; Low-set ears; Macrocephaly; Macrotia; Memory impairment; Microretrognathia; Muscular hypotonia; Obesity; Phenotypic variability; Polygenic inheritance; Polyphagia; Postural hypotension with compensatory tachycardia; Prominent nasal bridge; Round face; Strabismus; Vitamin B1 deficiencyObesity
SLC20A28p11.21100%gene with protein product158378MLVAR, GLVR2Abnormality of neuronal migration; Adult onset; Athetosis; Autosomal dominant inheritance; Basal ganglia calcification; Bradykinesia; Calcification of the small brain vessels; Cerebral calcification; Chorea; Corneal opacity; Dense calcifications in the cerebellar dentate nucleus; Depressivity; Dysarthria; Dysdiadochokinesis; Dystonia; Gait disturbance; Hepatomegaly; Hyperreflexia; Intrauterine growth retardation; Limb dysmetria; Mask-like facies; Memory impairment; Mental deterioration; Microcephaly; Parkinsonism; Postural instability; Progressive; Psychosis; Rigidity; Seizures; Subcutaneous hemorrhage; Thrombocytopenia; Tremor; Urinary incontinence; Ventriculomegaly
SORL111q24.1100%gene with protein product602005C11orf32Abnormal social behavior; Agitation; Cerebral cortical atrophy; Confusion; Deposits immunoreactive to beta-amyloid protein; Disinhibition; Hallucinations; Hypertonia; Language impairment; Memory impairment; Myoclonus; Neurofibrillary tangles; Parkinsonism; Seizures
SPAST2p22.3100%gene with protein product604277SPG4Aggressive behavior; Agitation; Apathy; Autosomal dominant inheritance; Babinski sign; Degeneration of the lateral corticospinal tracts; Dementia; Depressivity; Disinhibition; Genetic anticipation; Hyperreflexia; Impaired vibration sensation in the lower limbs; Insidious onset; Intellectual disability; Low back pain; Lower limb muscle weakness; Memory impairment; Nystagmus; Paraplegia; Progressive; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Variable expressivity
SPG716q24.3100%gene with protein product602783CMARAbnormal mitochondrial morphology; Adult onset; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Degeneration of the lateral corticospinal tracts; Dysarthria; Dysphagia; Gait ataxia; Hyperreflexia; Impaired vibration sensation in the lower limbs; Lower limb hyperreflexia; Lower limb hypertonia; Lower limb muscle weakness; Lower limb spasticity; Memory impairment; Nasal speech; Nystagmus; Optic atrophy; Pes cavus; Ragged-red muscle fibers; Scoliosis; Slowed slurred speech; Spastic gait; Spastic paraplegia; Supranuclear gaze palsy; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
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
TMEM106B7p21.3100%gene with protein product613413Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Aggressive behavior; Alexia; Anxiety; Apraxia; Collectionism; Depressivity; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontotemporal cerebral atrophy; Frontotemporal dementia; Grammar-specific speech disorder; Hyperorality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Perseveration; Personality changes; Poor speech; Restlessness; Restrictive behavior; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold
TMEM106B7p21.3100%gene with protein product613413Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Aggressive behavior; Alexia; Anxiety; Apraxia; Collectionism; Depressivity; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontotemporal cerebral atrophy; Frontotemporal dementia; Grammar-specific speech disorder; Hyperorality; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Perseveration; Personality changes; Poor speech; Restlessness; Restrictive behavior; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold
TOMM4019q13100%gene with protein product608061Abnormal social behavior; Agitation; Cerebral cortical atrophy; Confusion; Deposits immunoreactive to beta-amyloid protein; Disinhibition; Hallucinations; Hypertonia; Language impairment; Memory impairment; Myoclonus; Neurofibrillary tangles; Parkinsonism; Seizures
TREM26p21.1100%gene with protein product605086Abnormal adipose tissue morphology; Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the cerebral white matter; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agitation; Agnosia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Collectionism; Confusion; Deposits immunoreactive to beta-amyloid protein; Depressivity; Developmental regression; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypertonia; Hypoplasia of the corpus callosum; Inappropriate behavior; Irritability; Lack of insight; Language impairment; Leukoencephalopathy; Limitation of joint mobility; Loss of speech; Memory impairment; Muscle cramps; Myoclonus; Neurodegeneration; Neurofibrillary tangles; Neurological speech impairment; Oculomotor apraxia; Pain; Paralysis; Parkinsonism; Pathologic fracture; Peripheral demyelination; Perseveration; Personality changes; Poor speech; Primitive reflex; Reduced bone mineral density; Respiratory failure; Restlessness; Restrictive behavior; Seizures; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Ventriculomegaly; Xerostomia
TREM26p21.1100%gene with protein product605086Abnormal adipose tissue morphology; Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the cerebral white matter; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agitation; Agnosia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Collectionism; Confusion; Deposits immunoreactive to beta-amyloid protein; Depressivity; Developmental regression; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypertonia; Hypoplasia of the corpus callosum; Inappropriate behavior; Irritability; Lack of insight; Language impairment; Leukoencephalopathy; Limitation of joint mobility; Loss of speech; Memory impairment; Muscle cramps; Myoclonus; Neurodegeneration; Neurofibrillary tangles; Neurological speech impairment; Oculomotor apraxia; Pain; Paralysis; Parkinsonism; Pathologic fracture; Peripheral demyelination; Perseveration; Personality changes; Poor speech; Primitive reflex; Reduced bone mineral density; Respiratory failure; Restlessness; Restrictive behavior; Seizures; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Ventriculomegaly; Xerostomia
TREM26p21.1100%gene with protein product605086Abnormal adipose tissue morphology; Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the cerebral white matter; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agitation; Agnosia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Collectionism; Confusion; Deposits immunoreactive to beta-amyloid protein; Depressivity; Developmental regression; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypertonia; Hypoplasia of the corpus callosum; Inappropriate behavior; Irritability; Lack of insight; Language impairment; Leukoencephalopathy; Limitation of joint mobility; Loss of speech; Memory impairment; Muscle cramps; Myoclonus; Neurodegeneration; Neurofibrillary tangles; Neurological speech impairment; Oculomotor apraxia; Pain; Paralysis; Parkinsonism; Pathologic fracture; Peripheral demyelination; Perseveration; Personality changes; Poor speech; Primitive reflex; Reduced bone mineral density; Respiratory failure; Restlessness; Restrictive behavior; Seizures; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Ventriculomegaly; Xerostomia
TREM26p21.1100%gene with protein product605086Abnormal adipose tissue morphology; Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the cerebral white matter; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agitation; Agnosia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Collectionism; Confusion; Deposits immunoreactive to beta-amyloid protein; Depressivity; Developmental regression; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypertonia; Hypoplasia of the corpus callosum; Inappropriate behavior; Irritability; Lack of insight; Language impairment; Leukoencephalopathy; Limitation of joint mobility; Loss of speech; Memory impairment; Muscle cramps; Myoclonus; Neurodegeneration; Neurofibrillary tangles; Neurological speech impairment; Oculomotor apraxia; Pain; Paralysis; Parkinsonism; Pathologic fracture; Peripheral demyelination; Perseveration; Personality changes; Poor speech; Primitive reflex; Reduced bone mineral density; Respiratory failure; Restlessness; Restrictive behavior; Seizures; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Ventriculomegaly; Xerostomia
TREM26p21.1100%gene with protein product605086Abnormal adipose tissue morphology; Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the cerebral white matter; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agitation; Agnosia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Collectionism; Confusion; Deposits immunoreactive to beta-amyloid protein; Depressivity; Developmental regression; Disinhibition; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Echolalia; EEG abnormality; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Gliosis; Grammar-specific speech disorder; Hallucinations; Hyperorality; Hypertonia; Hypoplasia of the corpus callosum; Inappropriate behavior; Irritability; Lack of insight; Language impairment; Leukoencephalopathy; Limitation of joint mobility; Loss of speech; Memory impairment; Muscle cramps; Myoclonus; Neurodegeneration; Neurofibrillary tangles; Neurological speech impairment; Oculomotor apraxia; Pain; Paralysis; Parkinsonism; Pathologic fracture; Peripheral demyelination; Perseveration; Personality changes; Poor speech; Primitive reflex; Reduced bone mineral density; Respiratory failure; Restlessness; Restrictive behavior; Seizures; Skeletal dysplasia; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Ventriculomegaly; Xerostomia
TYROBP19q13.12100%gene with protein product604142PLOSLAbnormal adipose tissue morphology; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agnosia; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Developmental regression; Disinhibition; EEG abnormality; Frontal lobe dementia; Gait disturbance; Gliosis; Hypoplasia of the corpus callosum; Irritability; Lack of insight; Leukoencephalopathy; Limitation of joint mobility; Memory impairment; Myoclonus; Neurological speech impairment; Oculomotor apraxia; Pathologic fracture; Peripheral demyelination; Personality changes; Primitive reflex; Reduced bone mineral density; Seizures; Skeletal dysplasia; Spasticity; Urinary incontinence; Ventriculomegaly
TYROBP19q13.12100%gene with protein product604142PLOSLAbnormal adipose tissue morphology; Abnormal upper motor neuron morphology; Abnormality of epiphysis morphology; Abnormality of the foot; Abnormality of the hand; Aggressive behavior; Agnosia; Apraxia; Arthralgia; Autosomal recessive inheritance; Axonal loss; Babinski sign; Basal ganglia calcification; Bone cyst; Bone pain; Caudate atrophy; Cerebral atrophy; Cerebral calcification; Cerebral cortical atrophy; Chorea; Developmental regression; Disinhibition; EEG abnormality; Frontal lobe dementia; Gait disturbance; Gliosis; Hypoplasia of the corpus callosum; Irritability; Lack of insight; Leukoencephalopathy; Limitation of joint mobility; Memory impairment; Myoclonus; Neurological speech impairment; Oculomotor apraxia; Pathologic fracture; Peripheral demyelination; Personality changes; Primitive reflex; Reduced bone mineral density; Seizures; Skeletal dysplasia; Spasticity; Urinary incontinence; Ventriculomegaly
VAMP112p13.31100%gene with protein product185880SYB1Autosomal dominant inheritance; Dysarthria; Dysphagia; Dystonia; Gait disturbance; Hyperreflexia; Leg muscle stiffness; Memory impairment; Pes cavus; Ptosis; Slow saccadic eye movements; Spastic ataxia; Spastic paraplegia; Supranuclear gaze palsy; Variable expressivity
VCP9p13.3100%gene with protein product601023Abnormal brain FDG positron emission tomography; Abnormal nerve conduction velocity; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal dominant inheritance; Babinski sign; Back pain; Bone pain; Brain atrophy; Collectionism; Depressivity; Difficulty climbing stairs; Disinhibition; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated alkaline phosphatase of bone origin; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal cortical atrophy; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gait imbalance; Generalized muscle weakness; Grammar-specific speech disorder; Hammertoe; Hip pain; Hyperlordosis; Hyperorality; Impaired vibration sensation in the lower limbs; Inappropriate behavior; Increased spinal bone density; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Limb fasciculations; Limb muscle weakness; Loss of speech; Lower limb hyperreflexia; Lumbar hyperlordosis; Memory impairment; Muscle cramps; Muscle weakness; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Pelvic girdle amyotrophy; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Perseveration; Personality changes; Pes cavus; Poor speech; Progressive; Proximal muscle weakness; Recurrent fractures; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Tongue fasciculations; Ubiquitin-positive cerebral inclusion bodies; Variable expressivity; Waddling gait; Xerostomia
VCP9p13.3100%gene with protein product601023Abnormal brain FDG positron emission tomography; Abnormal nerve conduction velocity; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal dominant inheritance; Babinski sign; Back pain; Bone pain; Brain atrophy; Collectionism; Depressivity; Difficulty climbing stairs; Disinhibition; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated alkaline phosphatase of bone origin; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal cortical atrophy; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gait imbalance; Generalized muscle weakness; Grammar-specific speech disorder; Hammertoe; Hip pain; Hyperlordosis; Hyperorality; Impaired vibration sensation in the lower limbs; Inappropriate behavior; Increased spinal bone density; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Limb fasciculations; Limb muscle weakness; Loss of speech; Lower limb hyperreflexia; Lumbar hyperlordosis; Memory impairment; Muscle cramps; Muscle weakness; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Pelvic girdle amyotrophy; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Perseveration; Personality changes; Pes cavus; Poor speech; Progressive; Proximal muscle weakness; Recurrent fractures; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Tongue fasciculations; Ubiquitin-positive cerebral inclusion bodies; Variable expressivity; Waddling gait; Xerostomia
VPS13A9q21.299.95%gene with protein product605978CHACAbnormal bleeding; Abnormal urinary color; Abnormality of vision; Acanthocytosis; Aggressive behavior; Anxiety; Areflexia; Ataxia; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Caudate atrophy; Cerebral cortical atrophy; Chorea; Death in early adulthood; Developmental regression; Difficulty in tongue movements; Disinhibition; Distal upper limb muscle weakness; Drooling; Dysarthria; Dysgraphia; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG abnormality; Fatigue; Gait disturbance; Hyporeflexia; Limb muscle weakness; Memory impairment; Mood changes; Muscle fiber atrophy; Muscular hypotonia; Myopathy; Orofacial dyskinesia; Pallor; Parkinsonism; Peripheral neuropathy; Personality changes; Pes cavus; Progressive; Progressive choreoathetosis; Progressive distal muscular atrophy; Protruding tongue; Psychosis; Seizures; Self-mutilation of tongue and lips due to involuntary movements; Sensory neuropathy; Skeletal muscle atrophy; Tics; Tremor; Ventriculomegaly
XPR11q25.3100%gene with protein product605237Abnormality of neuronal migration; Adult onset; Autosomal dominant inheritance; Basal ganglia calcification; Cerebral calcification; Choreoathetosis; Corneal opacity; Dementia; Depressivity; Dysarthria; Hepatomegaly; Intrauterine growth retardation; Memory impairment; Microcephaly; Parkinsonism; Progressive; Seizures; Subcutaneous hemorrhage; Thrombocytopenia; Ventriculomegaly


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