| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short stepped shuffling gait, Shuffling gait, Memory impairment, Falls, Inappropriate behavior, S... |
ORPHA:412066 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Dystonia, Athetosis, Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Gait ataxia, Loss of ambulation, Gait disturbance, Ataxia, Dystonia, Basal ganglia ... |
ORPHA:225154 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gliosis, Ataxia, Unsteady gait |
OMIM:213200 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Dystonia, Astrocytosis, Gait disturbance |
OMIM:600795 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Gliosis |
OMIM:613002 |
| Huntington Disease |
|
Bradykinesia, Gait ataxia, Gliosis |
OMIM:143100 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Bradykinesia, Limb ataxia, Gait ataxia, Dysmetria, Gliosis, Ataxia, Dystonia, I... |
OMIM:607136 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Astrocytosis |
ORPHA:100070 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gait imbalance, Gait ataxia, Spastic ataxia, Gait disturbance, Gliosis, Torticollis |
OMIM:618369 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Gait disturbance, Gliosis, Hand tremor |
OMIM:604484 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis, Ataxia |
ORPHA:204 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Shuffling gait, Bradykinesia, Gait disturbance, Gliosis |
OMIM:221820 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Difficulty walking, Astrocytosis, Inability to walk |
OMIM:611087 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis, Gait disturbance |
ORPHA:275864 |
| Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gait ataxia, Tremor, Bradykinesia, Progressive cerebellar ataxia |
ORPHA:282166 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Unsteady gait, Gait disturbance, Gliosis |
OMIM:603896 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Gliosis, Abnormal... |
ORPHA:275872 |
| Hemimegalencephaly |
|
Abnormal neuron morphology, Gliosis |
ORPHA:99802 |
| Developmental And Epileptic Encephalopathy 14 |
|
Gliosis |
OMIM:614959 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Gliosis |
OMIM:225753 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Gliosis, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Childhood Disintegrative Disorder |
|
Mental deterioration, Abnormal emotion, Reduced social reciprocity, Social and occupational deter... |
ORPHA:168782 |
| Leigh Syndrome, Nuclear |
|
Dystonia, Pigmentary retinopathy, Gliosis, Ataxia |
OMIM:256000 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Akinesia, Astrocytosis, Retrocollis, Limb dystonia, Axial dystonia, Tremor, Gait imbalance... |
OMIM:601104 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis |
OMIM:615119 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Gait disturbance, Gliosis |
OMIM:221770 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Inability to walk, Gliosis, Ataxia, Cerebellar gliosis, Dystonia, Basal ganglia gliosis |
ORPHA:79243 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Bradykinesia, Loss of ambulation, Gait disturbance, Gliosis, Dyst... |
OMIM:168601 |
| Pick Disease Of Brain |
|
Gliosis |
OMIM:172700 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Dysmetria, Gait disturbance, Gliosis, Bradykinesia |
ORPHA:157941 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Gait disturbance, Gliosis, Tremor |
OMIM:300957 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Falls, Bradykinesia, Tremor, Gliosis, Unsteady gait, Dystonia |
ORPHA:683 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Difficulty walking, Inability to walk, Dystonic gait, Gliosis, Ataxia, Titubation |
ORPHA:280210 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Gliosis, Tremor |
ORPHA:457240 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis |
OMIM:604218 |
| Machado-Joseph Disease |
|
Bradykinesia, Limb ataxia, Gliosis, Ataxia, Truncal ataxia, Dystonia, Progressive cerebellar ataxia |
OMIM:109150 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Memory impairment, Neurofibrillary tangles, Confusion, Ataxia, Dementia, Semantic dementia, Abnor... |
ORPHA:1020 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Gliosis |
ORPHA:168486 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Bradykinesia, Difficulty walking, Astrocytosis, Action tremor, Gait disturbance, Truncal ataxia, ... |
ORPHA:309854 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Gliosis, Lethargy, Limb dystonia, Basal ganglia gliosis |
OMIM:604377 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Gliosis, Ataxia |
OMIM:612936 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Gliosis |
OMIM:615095 |
| L-2-Hydroxyglutaric Aciduria |
|
Gliosis, Ataxia |
OMIM:236792 |
| Early-Onset Lafora Body Disease |
|
Confusion, Mental deterioration, Lafora bodies, Ataxia |
ORPHA:324290 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Memory impairment, Neurofibrillary tangles, Amyotrophic lateral sclerosis, Frontotemporal dementi... |
OMIM:619132 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Unsteady gait, Gliosis, Ataxia |
OMIM:256600 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Head titubation, Gliosis, Vestibular areflexia |
ORPHA:3240 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Opisthotonus, Dystonia, Gliosis |
OMIM:277470 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Gliosis, Ataxia |
OMIM:169500 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Mental deterioration, Depression, Lewy bodies, Emotional lability, Loss of ambulation, Abnormal l... |
OMIM:614298 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis |
OMIM:608033 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Gait ataxia, Lethargy, Gliosis, Ataxia, Dystonia |
OMIM:618321 |
| Lissencephaly, X-Linked, 2 |
|
Gliosis |
OMIM:300215 |
| Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Resting tremor, Bradykinesia, Akinesia, Gliosis, Dystonia |
ORPHA:411602 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Gliosis |
OMIM:214150 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Memory impairment, Lewy bodies, Frontotemporal dementia |
OMIM:619133 |
| Supranuclear Palsy, Progressive, 2 |
|
Falls, Postural tremor, Gait imbalance, Retrocollis, Axial dystonia, Akinesia, Gliosis, Bradykinesia |
OMIM:609454 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Gliosis |
OMIM:614498 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Mental deterioration, Impaired vibratory sensation, Falls, Gait ataxia, Distal sensory impairment... |
OMIM:617225 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Lafora bodies, Spastic ataxia, Cognitive impairment, Ataxia, Dementia, Progressive cerebellar ataxia |
OMIM:616640 |
| Familial Acute Necrotizing Encephalopathy |
|
Gait disturbance, Gliosis |
ORPHA:88619 |
| Tay-Sachs Disease |
|
Laryngeal dystonia, Inability to walk, Tremor, Dysmetria, Gait disturbance, Gliosis, Exaggerated ... |
ORPHA:845 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Difficulty walking, Dystonia, Falls, Gliosis |
OMIM:618222 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Difficulty walking, Gait ataxia, Gliosis, Ataxia, Exaggerated startle response |
OMIM:620451 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Opisthotonus, Limb dystonia, Gliosis |
OMIM:619847 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Mental deterioration, Neurofibrillary tangles, Chorea, Lewy bodies, Short attention span, Emotion... |
OMIM:610217 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Inability to walk, Astrocytosis |
ORPHA:258 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Gait ataxia, Lewy bodies, Loss of ambulation, Gait disturbance, Dementia |
OMIM:600116 |
| Cockayne Syndrome Type 3 |
|
Premature graying of hair, Difficulty walking, Astrocytosis, Unsteady gait, Intention tremor |
ORPHA:90324 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Gliosis |
OMIM:616239 |
| Metachromatic Leukodystrophy, Adult Form |
|
Memory impairment, Depression, Progressive psychomotor deterioration, Difficulty walking, Chorea,... |
ORPHA:309271 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Astrocytosis, Gliosis, Ataxia |
OMIM:203700 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Mental deterioration, Neurofibrillary tangles, Akinesia, Lewy bodies, Dementia |
OMIM:616840 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Inability to walk, Gliosis, Ataxia |
OMIM:617193 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Gait disturbance, Cognitive impairment |
ORPHA:314632 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gliosis |
ORPHA:26791 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Gliosis, Basal ganglia gliosis |
OMIM:614946 |
| Mannosidosis, Alpha B, Lysosomal |
|
Limb ataxia, Gait ataxia, Gliosis |
OMIM:248500 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Gliosis |
ORPHA:261652 |
| Leigh Syndrome |
|
Gliosis, Ataxia, Dystonia, Athetosis, Choreoathetosis |
ORPHA:506 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Dementia, Neurofibrillary tangles, Ataxia, Cerebral amyloid angiopathy |
OMIM:117300 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal ataxia, Postural tremor, Gliosis, Ataxia |
OMIM:301072 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Pigmentary retinopathy, Inability to walk, Action tremor, Lingual dystonia, Gliosis, Dystonia, At... |
ORPHA:404454 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Gliosis |
OMIM:607485 |
| Molybdenum Cofactor Deficiency, Type B |
|
Opisthotonus, Gliosis |
OMIM:252160 |
| Molybdenum Cofactor Deficiency, Type A |
|
Opisthotonus, Gliosis |
OMIM:252150 |
| Congenital Disorder Of Deglycosylation 1 |
|
Gliosis, Athetosis, Action tremor, Dysmetria |
OMIM:615273 |
| Cerebrotendinous Xanthomatosis |
|
Resting tremor, Gait disturbance, Gliosis, Ataxia, Dystonia |
ORPHA:909 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Inability to walk, Dystonia, Gliosis |
OMIM:620371 |
| Cockayne Syndrome |
|
Pigmentary retinopathy, Difficulty walking, Inability to walk, Action tremor, Abnormality of reti... |
ORPHA:191 |
| Papillorenal Syndrome |
|
Gliosis |
OMIM:120330 |
| D-Bifunctional Protein Deficiency |
|
Gliosis |
OMIM:261515 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Gait disturbance, Gliosis, Ataxia |
ORPHA:268261 |
| Gabriele-De Vries Syndrome |
|
Dystonia, Gliosis, Tremor, Waddling gait |
ORPHA:506358 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Gliosis, Abnormality of skin pigmentation |
OMIM:300868 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dysmetria, Tremor, Gliosis, Ataxia, Truncal ataxia, Dystonia |
OMIM:220111 |
| Helsmoortel-Van Der Aa Syndrome |
|
Gliosis |
OMIM:615873 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Difficulty walking, Progressive gait ataxia, Cognitive impairment, Dementia, Progressive cerebell... |
ORPHA:513436 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Gliosis, Ataxia |
OMIM:124000 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Gliosis |
OMIM:617403 |
| Diets-Jongmans Syndrome |
|
Gliosis |
OMIM:618846 |
| Kufor-Rakeb Syndrome |
|
Akinesia, Distal sensory impairment, Gait disturbance, Ataxia, Dementia |
OMIM:606693 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Gliosis |
OMIM:620455 |
| Kufor-Rakeb Syndrome |
|
Mental deterioration, Difficulty walking, Confusion, Short attention span, Gait disturbance, Deme... |
ORPHA:306674 |
