Pelizaeus-Merzbacher Disease |
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Psychomotor deterioration, Broad-based gait, Ataxia, Reduction of oligodendroglia, Cerebral dysmy... |
OMIM:312080 |
Progressive Multifocal Leukoencephalopathy |
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Abnormal astrocyte morphology, Somatic sensory dysfunction, Decreased proportion of CD8-positive ... |
ORPHA:217260 |
Huntington Disease |
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Cerebellar atrophy, Chorea, Depression, Bradykinesia, Gait ataxia, Dementia, Gliosis |
OMIM:143100 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
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Somatic sensory dysfunction, Depression, Bradykinesia, Frontal lobe dementia, Memory impairment, ... |
OMIM:221820 |
Spinocerebellar Ataxia 17 |
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Cerebellar atrophy, Broad-based gait, Ataxia, Confusion, Aggressive behavior, Chorea, Limb ataxia... |
OMIM:607136 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Aggressive behavior, Euphoria, Frontal lobe dementia, Lateral ventricle dilatation, Inappropriate... |
OMIM:221770 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
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Spastic ataxia, Cerebellar atrophy, Aggressive behavior, Depression, Gait ataxia, Gait disturbanc... |
OMIM:618369 |
Ataxia-Pancytopenia Syndrome |
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Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutroph... |
ORPHA:2585 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Frontotemporal dementia, Athetosis, Gliosis, Dysphagia |
OMIM:300857 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Degeneration o... |
OMIM:604484 |
Pick Disease Of Brain |
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Abnormal repetitive mannerisms, Frontotemporal dementia, Irritability, Disinhibition, Inappropria... |
OMIM:172700 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
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Ataxia, Symmetric peripheral demyelination, Progressive neurologic deterioration, Abnormal cerebe... |
OMIM:169500 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Porphyria Due To Ala Dehydratase Deficiency |
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Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre... |
ORPHA:100924 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... |
OMIM:607485 |
Parkinson Disease 1, Autosomal Dominant |
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Mental deterioration, Depression, Bradykinesia, Dementia, Gait disturbance, Shuffling gait, Glios... |
OMIM:168601 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353277 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Abnormal lateral ventricle morphology, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |