Progressive Non-Fluent Aphasia |
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Temporal cortical atrophy, Senile plaques, Mental deterioration, Memory impairment, Astrocytosis,... |
ORPHA:100070 |
Focal Cortical Dysplasia, Type Ii |
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Cognitive impairment, Astrocytosis |
OMIM:607341 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Neuronal loss in central nervous system, Cerebral cortical atrophy, Memory impairment, Astrocytos... |
OMIM:600795 |
Sporadic Creutzfeldt-Jakob Disease |
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Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Cognitive impairment, Memory ... |
ORPHA:204 |
Behavioral Variant Of Frontotemporal Dementia |
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Mental deterioration, Memory impairment, Astrocytosis, Frontotemporal cerebral atrophy, Frontotem... |
ORPHA:275864 |
Pelizaeus-Merzbacher Disease |
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Cerebral dysmyelination, Cerebellar vermis atrophy, Cognitive impairment, Mental deterioration, S... |
OMIM:312080 |
Autosomal Recessive Spastic Paraplegia Type 69 |
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Abnormal myelination, Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia ... |
ORPHA:401830 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
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Mental deterioration, Gliosis, Cerebral atrophy, Cerebellar atrophy |
OMIM:618369 |
Progressive Multifocal Leukoencephalopathy |
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Cognitive impairment, Mental deterioration, Decreased proportion of CD8-positive T cells, Abnorma... |
ORPHA:217260 |
Autosomal Recessive Spastic Paraplegia Type 67 |
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Abnormal myelination, Cerebral cortical atrophy, Agenesis of corpus callosum, Aplasia/Hypoplasia ... |
ORPHA:401820 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
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Neurodegeneration, Cerebellar atrophy |
OMIM:615889 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
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Neurodegeneration |
OMIM:613068 |
Huntington Disease |
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Neuronal loss in central nervous system, Gliosis, Cerebellar atrophy, Dementia |
OMIM:143100 |
Ceroid Lipofuscinosis, Neuronal, 7 |
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Neurodegeneration, Cerebral atrophy, Cerebellar atrophy |
OMIM:610951 |
Chudley-Mccullough Syndrome |
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Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Cerebe... |
OMIM:604213 |
Spongiform Encephalopathy With Neuropsychiatric Features |
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Gliosis, Dementia |
OMIM:606688 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Brain atrophy, Cerebral atrophy, Partial agenesis of the corpus callosum, Abnormal myelination, A... |
ORPHA:85179 |
Inherited Creutzfeldt-Jakob Disease |
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Senile plaques, Neuronal loss in central nervous system, Progressive forgetfulness, Astrocytosis,... |
ORPHA:282166 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
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Ataxia, Gliosis, Limb ataxia, Dysmetria, Cerebellar hypoplasia, Gait ataxia, Unsteady gait |
OMIM:213200 |
Developmental And Epileptic Encephalopathy 14 |
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Neuronal loss in central nervous system, Gliosis, Delayed myelination, Cerebral cortical atrophy |
OMIM:614959 |
Microcephaly 10, Primary, Autosomal Recessive |
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Gliosis, Delayed myelination, Cerebral atrophy, Cerebellar atrophy, CNS hypomyelination |
OMIM:615095 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Neuronal loss in central nervous system, Gliosis, Astrocytosis, Cerebellar atrophy, Cerebral cort... |
OMIM:203700 |
Familial Infantile Bilateral Striatal Necrosis |
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Basal ganglia gliosis, Astrocytosis, Atrophy/Degeneration involving the caudate nucleus |
ORPHA:225154 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
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Neuronal loss in central nervous system, Gliosis, Mental deterioration, Corpus callosum atrophy, ... |
OMIM:221820 |
Autosomal Recessive Spastic Paraplegia Type 71 |
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Abnormal myelination |
ORPHA:401840 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
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Astrocytosis |
OMIM:172500 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Cerebral cortical atrophy, Cerebral atrophy, Neurodegeneration, Cerebellar atrophy, Peripheral de... |
OMIM:617672 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
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Abnormal myelination, Cerebellar atrophy |
OMIM:618324 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
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Astrocytosis |
OMIM:611087 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Cerebellar atrophy, CNS hypo... |
OMIM:616239 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gliosis, Cerebral atrophy... |
OMIM:105550 |
Diaminopentanuria |
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Neurodegeneration |
OMIM:222350 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Atrophy/Degeneration affecting the brainstem, Dysmyelinating leukodystrophy, Neurodegeneration, C... |
OMIM:612319 |
L-2-Hydroxyglutaric Aciduria |
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Gliosis, Severe demyelination of the white matter, Corpus callosum atrophy, Cerebellar atrophy, G... |
OMIM:236792 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Cerebral atrophy, Neurodegeneration, Cerebellar atrophy |
OMIM:300894 |
Cerebrooculofacioskeletal Syndrome 1 |
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Gliosis, Delayed myelination, Brain atrophy, Cerebellar hypoplasia, Neurodegeneration, Diffuse ce... |
OMIM:214150 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
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Abnormal cerebellum morphology, Gliosis, Leukodystrophy, Corpus callosum atrophy, Progressive neu... |
OMIM:169500 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
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Neurodegeneration, Cerebellar atrophy |
ORPHA:438134 |
Bilateral Frontoparietal Polymicrogyria |
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Cerebral dysmyelination, Abnormal cerebellum morphology, Hypoplasia of the pons, Cerebellar vermi... |
ORPHA:101070 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Gliosis, Frontotemporal dementia |
OMIM:300857 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
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Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Dementia |
OMIM:604218 |
Supranuclear Palsy, Progressive, 1 |
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Frontolimbic dementia, Senile plaques, Neuronal loss in central nervous system, Gliosis, Cerebral... |
OMIM:601104 |
Hereditary Methemoglobinemia |
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Methemoglobinemia, Temporal cortical atrophy, Delayed myelination, Frontal cortical atrophy, Cere... |
ORPHA:621 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Degeneration of anterior horn cells, Decreased number of peripheral myelinated nerve fibers, Glio... |
OMIM:604484 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Neurodegeneration, Cerebellar... |
OMIM:256600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Cerebral atrophy, Axonal degeneration, Neurodegeneration, Olivopontocerebellar atrophy, Cerebella... |
OMIM:615157 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Cerebellar dysplasia |
OMIM:615041 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
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Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebellar hypoplasia |
OMIM:616531 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
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Abnormal myelination, Cerebellar hypoplasia |
ORPHA:352682 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Elongated superior cerebellar peduncle, Cognitive impairment, Dilated fourth ventricle, Inferior ... |
ORPHA:370022 |
Joubert Syndrome 23 |
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Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
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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Autoimmune thrombocytopenia, Neurodegeneration, Diffuse cerebral atrophy, CNS demyelination, Peri... |
OMIM:245200 |
Cockayne Syndrome Type 3 |
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Demyelinating peripheral neuropathy, Brain atrophy, Splenomegaly, Cognitive impairment, Progressi... |
ORPHA:90324 |
Autosomal Recessive Spastic Paraplegia Type 70 |
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Abnormal myelination |
ORPHA:401835 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Diffuse cerebellar atrophy, Delayed myelination, Axonal degeneration, Neurodegeneration, Global b... |
ORPHA:478029 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Gliosis, Cerebral hypomyelination, Abnormal myelination, Cerebellar hypoplasia |
ORPHA:280210 |
Autosomal Recessive Spastic Paraplegia Type 57 |
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Abnormal myelination |
ORPHA:431329 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Cerebellar hypoplasia, Inability to walk, Cerebellar dysplasia |
OMIM:613155 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Hypoplasia of the pons, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Cerebellar dysplasi... |
OMIM:613153 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Polycythemia, Abnormal myelination, Astrocytosis, Splenomegaly |
ORPHA:309854 |
Poretti-Boltshauser Syndrome |
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Cerebellar cyst, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Cerebellar dysplasia |
OMIM:615960 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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CNS hypomyelination, Delayed myelination, Cerebellar atrophy |
OMIM:618367 |
Spastic Paraplegia 79, Autosomal Recessive |
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Cerebral atrophy, Neurodegeneration, Cerebellar atrophy |
OMIM:615491 |
3-Methylglutaconic Aciduria, Type Iv |
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Cerebellar dysplasia |
OMIM:250951 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Progressive language... |
OMIM:607485 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Cerebellar hypoplasia, Cerebellar cyst, Hypoplasia of the pons, Cerebellar dysplasia |
OMIM:615181 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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Gliosis, Cerebellar dysplasia |
ORPHA:457240 |
Neurodegeneration With Brain Iron Accumulation 6 |
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Neurodegeneration |
OMIM:615643 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Neurodegeneration, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:618476 |
Ataxia-Telangiectasia-Like Disorder 2 |
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Neurodegeneration, Cerebellar atrophy |
OMIM:615919 |
Crome Syndrome |
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Cerebellar dysplasia |
OMIM:218900 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Diffuse cerebral atrophy, Abnormal myelination |
ORPHA:289266 |
Chediak-Higashi Syndrome |
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Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Neurodegeneration, Impaired ... |
OMIM:214500 |
Hsd10 Disease, Infantile Type |
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Diffuse cerebral atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration |
ORPHA:391428 |
Non-Specific Early-Onset Epileptic Encephalopathy |
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Mental deterioration, Abnormal myelination, Cerebral atrophy, Brain atrophy |
ORPHA:442835 |
Amyotrophic Lateral Sclerosis |
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Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Abnormal myelination |
OMIM:617333 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
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Gliosis, Cerebral atrophy, Neurodegeneration, Pancytopenia |
OMIM:618321 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Cerebral atrophy, Neurodegeneration, Cerebellar atrophy |
OMIM:610217 |
Leukodystrophy, Hypomyelinating, 2 |
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Cerebral atrophy, Demyelinating motor neuropathy, Cognitive impairment, Leukodystrophy, Cerebral ... |
OMIM:608804 |
Gm2 Gangliosidosis, Ab Variant |
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Cerebral atrophy, Neurodegeneration |
ORPHA:309246 |
Cerebral Visual Impairment |
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Central nervous system degeneration, Neurodegeneration |
ORPHA:447788 |
Multiple System Atrophy 1, Susceptibility To |
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Neurodegeneration, Olivopontocerebellar atrophy |
OMIM:146500 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Neurodegeneration, Cerebellar atrophy |
OMIM:614298 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
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Cerebellar hypoplasia, Partial absence of cerebellar vermis, Cerebellar dysplasia, Cerebellar cys... |
OMIM:613150 |
Hurler Syndrome |
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Hepatosplenomegaly, Abnormal CNS myelination, Neurodegeneration, Splenomegaly |
OMIM:607014 |
Nijmegen Breakage Syndrome |
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Glioma, Neurodegeneration, B lymphocytopenia, T lymphocytopenia, Autoimmune hemolytic anemia, Thr... |
OMIM:251260 |
Gm2-Gangliosidosis, Ab Variant |
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Cerebral atrophy, Neurodegeneration |
OMIM:272750 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Abnormal peripheral myelination, Brain atrophy, Atrophy of the spinal cord, Mixed demyelinating a... |
ORPHA:466768 |
Monosomy 18Q |
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Abnormal myelination, Cerebellar hypoplasia, Astrocytoma |
ORPHA:1600 |
Adrenoleukodystrophy |
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Neurodegeneration |
OMIM:300100 |
Mucopolysaccharidosis, Type Ii |
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Hepatosplenomegaly, Neurodegeneration, Splenomegaly |
OMIM:309900 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Gliosis, Delayed myelination, Cerebral atrophy, Splenomegaly, Cerebellar atrophy, Abnormal myelin... |
ORPHA:404454 |
Neurodegeneration With Brain Iron Accumulation 3 |
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Neurodegeneration |
OMIM:606159 |
Mucopolysaccharidosis, Type Vii |
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Neurodegeneration, Splenomegaly |
OMIM:253220 |
Pyruvate Dehydrogenase E2 Deficiency |
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Neurodegeneration |
ORPHA:79244 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Cerebral atrophy, Neurodegeneration |
OMIM:616878 |
Aprosencephaly And Cerebellar Dysgenesis |
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Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Leukodystrophy, Delayed myelination, Neurodegeneration, Peripheral demyelination |
OMIM:619475 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
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Abnormal myelination |
ORPHA:67045 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Cerebral degeneration, Global brain atrophy, Neurodegeneration, Acanthocytosis |
OMIM:234200 |
Spastic Paraplegia 44, Autosomal Recessive |
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Cognitive impairment |
OMIM:613206 |
Orofaciodigital Syndrome Type 14 |
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Partial agenesis of the corpus callosum, Abnormal myelination, Dilated fourth ventricle, Dandy-Wa... |
ORPHA:434179 |
Autosomal Recessive Spastic Paraplegia Type 44 |
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CNS hypomyelination |
ORPHA:320401 |
Degcags Syndrome |
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Congenital hypoplastic anemia, Leukopenia, Abnormal spleen morphology, Hepatosplenomegaly, Iron d... |
OMIM:619488 |
Primrose Syndrome |
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Neurodegeneration |
OMIM:259050 |
Lymphatic Malformation 3 |
|
|
OMIM:613480 |
Milroy Disease |
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ORPHA:79452 |