Neurodegeneration With Brain Iron Accumulation 2A |
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Neuronal loss in central nervous system, Ataxia, Gliosis, Decreased nerve conduction velocity, Ce... |
OMIM:256600 |
Spinocerebellar Ataxia 13 |
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Progressive cerebellar ataxia, Limb ataxia, Morphological abnormality of the pyramidal tract, Opt... |
OMIM:605259 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Gliosis, Axonal degeneration, Degeneration of anterior horn cells, Gait disturbance, Decreased nu... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... |
OMIM:614436 |
L-2-Hydroxyglutaric Aciduria |
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Gliosis, Corpus callosum atrophy, Morphological abnormality of the pyramidal tract, Optic atrophy... |
OMIM:236792 |
Charcot-Marie-Tooth Disease, Type 4A |
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Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Dysmetria, Axonal degeneration, Tip-toe gait, Onion bulb formation, Decreased motor nerve conduct... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Gait disturbance, Steppage gait, Axonal degeneration |
OMIM:616155 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
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Abnormal cerebellum morphology, Sensory axonal neuropathy, Morphological abnormality of the pyram... |
OMIM:256850 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... |
ORPHA:98856 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... |
OMIM:602433 |
Spastic Paraplegia 2, X-Linked |
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Abnormal cerebellum morphology, Loss of ambulation, Dysmetria, Degeneration of the lateral cortic... |
OMIM:312920 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Ataxia, Cerebral atrophy, Dysmetria, Axonal degeneration, Dysdiadochokinesis, Neurodegeneration, ... |
OMIM:615157 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
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Cerebral atrophy, Tip-toe gait, Morphological abnormality of the pyramidal tract, Gait disturbanc... |
ORPHA:83629 |
Progressive Non-Fluent Aphasia |
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Temporal cortical atrophy, Senile plaques, Astrocytosis, Abnormal lower motor neuron morphology, ... |
ORPHA:100070 |
Amyotrophic Lateral Sclerosis 8 |
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Loss of ambulation, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Morph... |
OMIM:608627 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... |
OMIM:208920 |
Spinocerebellar Ataxia 8 |
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Progressive cerebellar ataxia, Morphological abnormality of the pyramidal tract, Cerebellar atrophy |
OMIM:608768 |
Spinocerebellar Ataxia 10 |
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Progressive cerebellar ataxia, Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Dysdi... |
OMIM:603516 |
Gerstmann-Straussler-Scheinker Syndrome |
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Abnormal cerebellum morphology, Gait ataxia, Morphological abnormality of the pyramidal tract |
ORPHA:356 |
Adult Krabbe Disease |
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Broad-based gait, Abnormal pons morphology, Ataxia, Morphological abnormality of the corticospina... |
ORPHA:206448 |
Familial Infantile Bilateral Striatal Necrosis |
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Ataxia, Loss of ambulation, Atrophy/Degeneration involving the caudate nucleus, Basal ganglia gli... |
ORPHA:225154 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Gait disturbance, Neuronal loss in central nervous system, Cerebral cortical atrophy, Astrocytosis |
OMIM:600795 |
Huntington Disease-Like 3 |
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Ataxia, Frontal cortical atrophy, Morphological abnormality of the pyramidal tract, Unsteady gait... |
OMIM:604802 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
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Broad-based gait, Inability to walk, Axonal degeneration, Peripheral axonal neuropathy, Decreased... |
OMIM:615490 |
Spinocerebellar Ataxia, X-Linked 4 |
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Ataxia, Morphological abnormality of the pyramidal tract |
OMIM:301840 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Waddling gait, Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Spastic Paralysis, Infantile-Onset Ascending |
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Morphological abnormality of the corticospinal tract, Abnormal lower motor neuron morphology |
OMIM:607225 |
Sporadic Creutzfeldt-Jakob Disease |
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Neuronal loss in central nervous system, Gliosis, Ataxia, Cerebral atrophy, Astrocytosis |
ORPHA:204 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Ataxia, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve ... |
OMIM:604168 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
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Ataxia, Corticospinal tract atrophy |
OMIM:551500 |
Dystonia 9 |
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Choreoathetosis, Morphological abnormality of the pyramidal tract, Episodic ataxia |
OMIM:601042 |
Behavioral Variant Of Frontotemporal Dementia |
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Gait disturbance, Frontotemporal cerebral atrophy, Astrocytosis |
ORPHA:275864 |
Mitochondrial Dna Depletion Syndrome 18 |
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Falls, Axonal degeneration |
OMIM:618811 |
Inherited Creutzfeldt-Jakob Disease |
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Senile plaques, Neuronal loss in central nervous system, Progressive cerebellar ataxia, Central n... |
ORPHA:282166 |
Frontotemporal Dementia With Motor Neuron Disease |
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Gliosis, Progressive cerebellar ataxia, Abnormal mitochondrial morphology, Degeneration of the la... |
ORPHA:275872 |
Spastic Paraplegia 7, Autosomal Recessive |
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Cerebral cortical atrophy, Dysmetria, Dysdiadochokinesis, Degeneration of the lateral corticospin... |
OMIM:607259 |
Dystonia 16 |
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Gait disturbance, Morphological abnormality of the pyramidal tract |
OMIM:612067 |
Autosomal Dominant Spastic Paraplegia Type 73 |
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Degeneration of the lateral corticospinal tracts, Spastic gait, Difficulty walking |
ORPHA:444099 |
Familial Congenital Mirror Movements |
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Morphological abnormality of the corticospinal tract, Agenesis of corpus callosum |
ORPHA:238722 |
Amyotrophic Lateral Sclerosis 1 |
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Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... |
OMIM:105400 |
Amyotrophy, Hereditary Neuralgic |
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Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
Spastic Paraplegia 11, Autosomal Recessive |
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Ataxia, Cerebral cortical atrophy, Tip-toe gait, Degeneration of the lateral corticospinal tracts... |
OMIM:604360 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
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Peripheral axonal neuropathy, Axonal degeneration |
OMIM:620011 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
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Degeneration of anterior horn cells, Decreased nerve conduction velocity, Peripheral axonal degen... |
OMIM:604320 |
Spastic Paraplegia 8, Autosomal Dominant |
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Degeneration of the lateral corticospinal tracts, Spastic gait |
OMIM:603563 |
Aicardi-Goutieres Syndrome 1 |
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Cerebellar calcifications, Inability to walk, Cerebral atrophy, Morphological abnormality of the ... |
OMIM:225750 |
Focal Cortical Dysplasia, Type Ii |
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Astrocytosis |
OMIM:607341 |
Autosomal Dominant Spastic Paraplegia Type 8 |
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Limb ataxia, Degeneration of the lateral corticospinal tracts, Limb dysmetria, Difficulty walking... |
ORPHA:100989 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
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Difficulty walking, Inability to walk, Astrocytosis |
OMIM:611087 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Decreased nerve conduction velocity, Morphological abnormality of the pyramidal tract, Cerebral c... |
OMIM:238970 |
Autosomal Dominant Spastic Paraplegia Type 37 |
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Degeneration of the lateral corticospinal tracts, Spastic gait, Difficulty walking |
ORPHA:171612 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
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Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axonal de... |
OMIM:608720 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Optic neuropathy, Axonal degeneration, Optic atrophy, Cerebellar atrophy, Global brain atrophy |
OMIM:616811 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Ataxia, Axonal degeneration, Gait disturbance, Gait ataxia, Abnormal sensory nerve conduction vel... |
ORPHA:88628 |
Spastic Paraplegia 6, Autosomal Dominant |
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Degeneration of the lateral corticospinal tracts, Spastic gait |
OMIM:600363 |
Parkinson-Dementia Syndrome |
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Morphological abnormality of the pyramidal tract |
OMIM:260540 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Optic neuropathy, Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brai... |
ORPHA:478029 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Neuronal loss in central nervous system, Gliosis, Ataxia, Astrocytosis, Cerebellar atrophy, Cereb... |
OMIM:203700 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
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Facial palsy, Inability to walk, Morphological abnormality of the pyramidal tract, Gait ataxia |
OMIM:607483 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
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Ataxia, Astrocytosis |
OMIM:172500 |
Spastic Paraplegia 3, Autosomal Dominant |
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Degeneration of the lateral corticospinal tracts, Spastic gait |
OMIM:182600 |
Autosomal Dominant Spastic Paraplegia Type 41 |
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Degeneration of the lateral corticospinal tracts, Spastic gait |
ORPHA:320355 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
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Aplasia/Hypoplasia of the pyramidal tract |
OMIM:619602 |
Narp Syndrome |
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Ataxia, Cerebral cortical atrophy, Optic disc pallor, Progressive gait ataxia, Corticospinal trac... |
ORPHA:644 |
Autosomal Dominant Spastic Paraplegia Type 19 |
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Degeneration of the lateral corticospinal tracts, Spastic gait, Difficulty walking, Limb ataxia |
ORPHA:100999 |
Autosomal Dominant Spastic Paraplegia Type 38 |
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Degeneration of the lateral corticospinal tracts, Spastic gait, Frontotemporal cerebral atrophy |
ORPHA:171617 |
Autosomal Dominant Spastic Paraplegia Type 42 |
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Degeneration of the lateral corticospinal tracts, Spastic gait |
ORPHA:171863 |
Dihydropyrimidinase Deficiency |
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Morphological abnormality of the pyramidal tract |
OMIM:222748 |
Spastic Paraplegia 4, Autosomal Dominant |
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Degeneration of the lateral corticospinal tracts, Spastic gait |
OMIM:182601 |
De Sanctis-Cacchione Syndrome |
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Ataxia, Cerebral atrophy, Axonal degeneration, Olivopontocerebellar atrophy, Optic atrophy, Chore... |
OMIM:278800 |
Parkinsonism-Dystonia 1, Infantile-Onset |
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Morphological abnormality of the pyramidal tract |
OMIM:613135 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Athetosis, Amyotrophic lateral sclerosis, Gliosis, Axonal loss |
OMIM:300857 |
Supranuclear Palsy, Progressive, 1 |
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Gait imbalance, Senile plaques, Neuronal loss in central nervous system, Akinesia, Gliosis, Cereb... |
OMIM:601104 |
Adrenomyeloneuropathy |
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Axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Peripheral axonal d... |
ORPHA:139399 |
Cerebrotendinous Xanthomatosis |
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Optic neuropathy, Abnormal cerebellum morphology, Ataxia, Gliosis, Decreased nerve conduction vel... |
ORPHA:909 |
Autosomal Dominant Spastic Paraplegia Type 12 |
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Degeneration of the lateral corticospinal tracts, Spastic gait, Difficulty walking, Limb ataxia |
ORPHA:100993 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
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Cerebellar hypoplasia, Ataxia, Corticospinal tract hypoplasia, Agenesis of corpus callosum |
ORPHA:255138 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Optic atrophy, Ataxia, Morphological abnormality of the pyramidal tract |
OMIM:612199 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Pontocerebellar atrophy, Inability to walk, Astrocytosis, Facial palsy |
ORPHA:258 |
Cockayne Syndrome Type 3 |
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Brain atrophy, Peripheral axonal neuropathy, Astrocytosis, Optic disc pallor, Dense calcification... |
ORPHA:90324 |
Angioedema, Hereditary, 1 |
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Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
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Abnormality of peripheral nerve conduction, Ataxia, Morphological abnormality of the pyramidal tr... |
OMIM:302900 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Dysdiadochokinesis, Truncal ataxia, Astrocytosis, Gait disturbance, Difficulty walking |
ORPHA:309854 |
Friedreich Ataxia 2 |
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Abnormality of peripheral nerve conduction, Ataxia, Morphological abnormality of the pyramidal tract |
OMIM:601992 |
Friedreich Ataxia And Congenital Glaucoma |
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Decreased amplitude of sensory action potentials, Ataxia, Morphological abnormality of the pyrami... |
OMIM:229310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Cerebellar hypoplasia, Optic atrophy, Cerebellar cyst, Agenesis of corpus callosum, Hypoplasia of... |
OMIM:253800 |
Kanzaki Disease |
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Cerebral atrophy, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:609242 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
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Corticospinal tract hypoplasia, Agenesis of corpus callosum |
OMIM:307000 |
Smith-Magenis Syndrome |
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Gait disturbance, Corticospinal tract hypoplasia |
ORPHA:819 |
Spastic Paraplegia 48, Autosomal Recessive |
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Broad-based gait, Spastic gait, Ataxia, Dysmetria |
OMIM:613647 |
Williams Syndrome |
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Gait imbalance, Ataxia, Cerebral cortical atrophy, Dysmetria, Atrophy/Degeneration involving the ... |
ORPHA:904 |
Autosomal Recessive Spastic Paraplegia Type 48 |
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Broad-based gait, Spastic gait, Ataxia |
ORPHA:306511 |