Focal Cortical Dysplasia, Type Ii |
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Cognitive impairment, Astrocytosis |
OMIM:607341 |
Sporadic Creutzfeldt-Jakob Disease |
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Confusion, Cerebral atrophy, Astrocytosis, Dementia, Gliosis, Cognitive impairment, Memory impair... |
ORPHA:204 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Frontotemporal dementia, Astrocytosis, Memory impairment, Neuronal loss in central nervous system... |
OMIM:600795 |
Pelizaeus-Merzbacher Disease |
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Psychomotor deterioration, Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic le... |
OMIM:312080 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia ... |
ORPHA:401830 |
Behavioral Variant Of Frontotemporal Dementia |
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Frontotemporal dementia, Astrocytosis, Frontotemporal cerebral atrophy, Mental deterioration, Mem... |
ORPHA:275864 |
Autosomal Recessive Spastic Paraplegia Type 67 |
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Abnormal myelination, Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia ... |
ORPHA:401820 |
Progressive Multifocal Leukoencephalopathy |
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Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Abnormal oligodendro... |
ORPHA:217260 |
Ceroid Lipofuscinosis, Neuronal, 7 |
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Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
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Neurodegeneration |
OMIM:613068 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Cerebellar dysplasia |
OMIM:615041 |
Huntington Disease |
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Cerebellar atrophy, Dementia, Gliosis, Neuronal loss in central nervous system |
OMIM:143100 |
Inherited Creutzfeldt-Jakob Disease |
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Short attention span, Confusion, Progressive forgetfulness, Astrocytosis, Central nervous system ... |
ORPHA:282166 |
Chudley-Mccullough Syndrome |
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Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Cereb... |
OMIM:604213 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology, Frontotemporal dementia, Temporal cortical atrophy, Astro... |
ORPHA:100070 |
L-2-Hydroxyglutaric Aciduria |
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Cerebellar atrophy, Severe demyelination of the white matter, Corpus callosum atrophy, Gliosis, G... |
OMIM:236792 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Dilated fourth ventricle, Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Ce... |
OMIM:213200 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Partial agenesis of the corpus callosum, Cerebral atrophy, Brain atrophy, Abnormal myelination, A... |
ORPHA:85179 |
Microcephaly 10, Primary, Autosomal Recessive |
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Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Cerebellar hemisphere hypoplasia, ... |
OMIM:615095 |
Familial Infantile Bilateral Striatal Necrosis |
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Basal ganglia gliosis, Atrophy/Degeneration involving the caudate nucleus, Astrocytosis |
ORPHA:225154 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
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Corpus callosum atrophy, Frontal lobe dementia, CNS demyelination, Gliosis, Mental deterioration,... |
OMIM:221820 |
Autosomal Recessive Spastic Paraplegia Type 71 |
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Abnormal myelination |
ORPHA:401840 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
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Astrocytosis |
OMIM:611087 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Cerebral cortical atrophy, Peripheral de... |
OMIM:617672 |
Diaminopentanuria |
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Neurodegeneration |
OMIM:222350 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Cerebellar atrophy, Dysmyelinating leukodystrophy, Neurodegeneration, Atrophy/Degeneration affect... |
OMIM:612319 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Frontotemporal dementia, C... |
OMIM:105550 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Cerebellar atrophy, Cerebral atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervou... |
OMIM:256600 |
Cerebrooculofacioskeletal Syndrome 1 |
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Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Gliosis, Cerebellar hypoplasia... |
OMIM:214150 |
Bilateral Frontoparietal Polymicrogyria |
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Cerebellar vermis hypoplasia, Cerebral dysmyelination, Hypoplasia of the pons, Abnormal cerebellu... |
ORPHA:101070 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
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Symmetric peripheral demyelination, Progressive neurologic deterioration, Corpus callosum atrophy... |
OMIM:169500 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
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Cerebellar atrophy, Neurodegeneration |
ORPHA:438134 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
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Dementia, Gliosis, Neuronal loss in central nervous system, Cerebral atrophy |
OMIM:604218 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Frontotemporal dementia, Amyotrophic lateral sclerosis, Gliosis |
OMIM:300857 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Cerebellar atrophy, CNS hypomyelination, Gliosis, Neurodegeneration, Neuronal loss in central ner... |
OMIM:616239 |
Supranuclear Palsy, Progressive, 1 |
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Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Senile plaques, Memory imp... |
OMIM:601104 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Cerebellar atrophy, Cerebral cortical neurodegeneration, Cerebral atrophy, Astrocytosis, Dementia... |
OMIM:203700 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Cerebellar hypoplasia, Abnormal myelination |
ORPHA:352682 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
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Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:616531 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Cognitive... |
ORPHA:370022 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Pontocerebellar atrophy, Cognitive impairment, Astrocytosis |
ORPHA:258 |
Krabbe Disease |
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Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Neurodegeneration, CNS demyelination, Peri... |
OMIM:245200 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Delayed CNS myelination, Splenomegaly, Leukopenia, Neurodegeneration, Lymphopenia |
OMIM:620210 |
Cockayne Syndrome Type 3 |
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Progressive neurologic deterioration, Splenomegaly, Astrocytosis, Cognitive impairment, Abnormal ... |
ORPHA:90324 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Delayed myelination, Axonal degeneration, Neurodegeneration, Diffuse cerebellar atrophy, Global b... |
ORPHA:478029 |
Autosomal Recessive Spastic Paraplegia Type 70 |
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Abnormal myelination |
ORPHA:401835 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Autosomal Recessive Spastic Paraplegia Type 57 |
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Abnormal myelination |
ORPHA:431329 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Cerebral hypomyelination, Gliosis, Cerebellar hypoplasia, Abnormal myelination |
ORPHA:280210 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Agenesis of cerebellar vermis, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar cyst, Ag... |
OMIM:613153 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Splenomegaly, Abnormal myelination, Polycythemia, Astrocytosis |
ORPHA:309854 |
Poretti-Boltshauser Syndrome |
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Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:615960 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:300894 |
3-Methylglutaconic Aciduria, Type Iv |
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Cerebellar dysplasia |
OMIM:250951 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Olivopontocerebellar atrophy, Cerebral c... |
OMIM:615157 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Hypoplasia of the pons, Cerebellar cyst, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:615181 |
Neurodegeneration With Brain Iron Accumulation 6 |
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Neurodegeneration |
OMIM:615643 |
Spastic Paraplegia 79B, Autosomal Recessive |
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Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:615491 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Abnormal myelination, Cerebral atrophy, Brain atrophy, Attention deficit hyperactivity disorder, ... |
ORPHA:442835 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Diffuse cerebral atrophy, Abnormal myelination |
ORPHA:289266 |
Hsd10 Disease, Infantile Type |
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Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Neurodegeneration, Cerebral atrophy |
ORPHA:391428 |
Crome Syndrome |
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Cerebellar dysplasia |
OMIM:218900 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Chiari type I malformation, Neurodegeneration, Cerebellar hypoplasia, Agenesis of corpus callosum... |
OMIM:618476 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
Amyotrophic Lateral Sclerosis |
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Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Ataxia-Telangiectasia-Like Disorder 2 |
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Cerebellar atrophy, Neurodegeneration |
OMIM:615919 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
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Neurodegeneration, Pancytopenia, Gliosis, Cerebral atrophy |
OMIM:618321 |
Gm2 Gangliosidosis, Ab Variant |
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Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610217 |
Leukodystrophy, Hypomyelinating, 2 |
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Demyelinating motor neuropathy, Cerebral atrophy, Cognitive impairment, Leukodystrophy, Cerebral ... |
OMIM:608804 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Cerebellar atrophy, Neurodegeneration |
OMIM:614298 |
Multiple System Atrophy 1, Susceptibility To |
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Neurodegeneration, Olivopontocerebellar atrophy |
OMIM:146500 |
Hurler Syndrome |
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Splenomegaly, Abnormal CNS myelination, Neurodegeneration, Hepatosplenomegaly |
OMIM:607014 |
Cerebral Visual Impairment |
|
Central nervous system degeneration, Neurodegeneration |
ORPHA:447788 |
Adrenoleukodystrophy |
|
Neurodegeneration |
OMIM:300100 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Abnormal myelination |
OMIM:617333 |
Monosomy 18Q |
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Astrocytoma, Cerebellar hypoplasia, Abnormal myelination |
ORPHA:1600 |
Gm2-Gangliosidosis, Ab Variant |
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Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Cerebellar atrophy, Abnormal peripheral myelination, Atrophy of the spinal cord, Brain atrophy, A... |
ORPHA:466768 |
Mucopolysaccharidosis, Type Ii |
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Splenomegaly, Neurodegeneration, Hepatosplenomegaly |
OMIM:309900 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Splenomegaly, Delayed myelination, Cerebral atrophy, Gliosis, Abnormal myelin... |
ORPHA:404454 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration |
OMIM:606159 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Glioma, T lymphocytopenia, B lymphocytopenia, Neurodegeneration, Thr... |
OMIM:251260 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Neurodegeneration, Cerebral atrophy |
OMIM:616878 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
Mucopolysaccharidosis, Type Vii |
|
Splenomegaly, Neurodegeneration |
OMIM:253220 |
Spastic Paraplegia 44, Autosomal Recessive |
|
Cognitive impairment, CNS hypomyelination |
OMIM:613206 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Delayed myelination, Neurodegeneration, Peripheral demyelination, Leukodystrophy |
OMIM:619475 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Cerebral degeneration, Neurodegeneration, Global brain atrophy, Acanthocytosis |
OMIM:234200 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Abn... |
ORPHA:434179 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
CNS hypomyelination |
ORPHA:320401 |
Degcags Syndrome |
|
Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem... |
OMIM:619488 |
Primrose Syndrome |
|
Neurodegeneration |
OMIM:259050 |
Lymphatic Malformation 3 |
|
|
OMIM:613480 |
Milroy Disease |
|
|
ORPHA:79452 |