Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... |
OMIM:606482 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Amyotrophic lateral sclerosis, Axonal degeneration, Abnormal lower motor neuron morphology, Perip... |
OMIM:602433 |
Charcot-Marie-Tooth Disease, Type 4A |
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Hypertrophic nerve changes, Basal lamina onion bulb formation, Axonal degeneration, Decreased num... |
OMIM:214400 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Axonal degeneration, Degeneration of anterior horn cells, Decreased number of peripheral myelinat... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Peripheral axonal degeneration, Axonal degeneration/regeneration, Axonal degeneration |
OMIM:614436 |
Charcot-Marie-Tooth Disease, Type 4C |
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Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axonal degeneration, Periph... |
OMIM:601596 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax... |
ORPHA:98856 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
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Global brain atrophy, Neurofibrillary tangles, Amyotrophic lateral sclerosis |
OMIM:619132 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Axonal degeneration |
OMIM:616155 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Cerebellar atrophy, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, ... |
OMIM:302800 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Cerebral atrophy, Peripheral demyelination, Axonal degeneration, Peripheral hypomyelination, Peri... |
OMIM:604168 |
Amyotrophy, Hereditary Neuralgic |
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Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
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Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... |
OMIM:615490 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
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Peripheral axonal neuropathy, Axonal degeneration |
OMIM:620011 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
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Senile plaques, Neurofibrillary tangles |
DECIPHER:48 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
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Peripheral axonal degeneration, Degeneration of anterior horn cells, Axonal degeneration |
OMIM:604320 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Axonal degeneration |
OMIM:618138 |
Mitochondrial Dna Depletion Syndrome 18 |
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Axonal degeneration |
OMIM:618811 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Cer... |
OMIM:208920 |
Alzheimer Disease 9, Susceptibility To |
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Cerebral cortical atrophy, Senile plaques, Neurofibrillary tangles, Hippocampal atrophy |
OMIM:608907 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
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Senile plaques, Neurofibrillary tangles |
OMIM:605055 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
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Lewy bodies, Amyotrophic lateral sclerosis |
OMIM:619133 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Optic atrophy, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Optic neuropathy |
OMIM:616811 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Optic n... |
ORPHA:478029 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Abnormal peripheral nerve morphology by anatomical site, Abnormal spinal cord morphology, Axonal ... |
ORPHA:88628 |
Adrenomyeloneuropathy |
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Axonal degeneration, Peripheral axonal degeneration, Dorsal column degeneration, Atrophy of the s... |
ORPHA:139399 |
Angioedema, Hereditary, 1 |
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Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Alzheimer Disease 4 |
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Senile plaques, Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:606889 |
De Sanctis-Cacchione Syndrome |
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Optic atrophy, Global brain atrophy, Cerebral atrophy, Axonal degeneration |
OMIM:278800 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Cerebral cortical atrophy, Lewy bodies, Neurofibrillary tangles, Neuronal loss in central nervous... |
OMIM:607485 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
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Cerebral cortical atrophy, Lewy bodies, Neurofibrillary tangles |
OMIM:616840 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Global brain atrophy, Cerebellar atrophy, Myelopathy, Axonal degeneration, Optic d... |
ORPHA:909 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Optic atrophy, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, ... |
OMIM:610217 |
Alzheimer Disease 2 |
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Neurofibrillary tangles |
OMIM:104310 |
Kanzaki Disease |
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Peripheral axonal neuropathy, Cerebral atrophy, Axonal degeneration |
OMIM:609242 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Optic atrophy, Cerebellar atrophy, Neurodegeneration, Lewy bodies, Motor axonal neuropathy, Abnor... |
OMIM:614298 |
Alzheimer Disease, Familial, 1 |
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Neurofibrillary tangles |
OMIM:104300 |
Alzheimer Disease 3 |
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Cerebral cortical atrophy, Neurofibrillary tangles |
OMIM:607822 |
Idiopathic Camptocormia |
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Myelitis, Cerebral atrophy, Amyotrophic lateral sclerosis, Lewy bodies, Syringomyelia |
ORPHA:1320 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Cerebral cortical atrophy, Neurofibrillary tangles |
ORPHA:1020 |
Niemann-Pick Disease, Type C1 |
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Neurofibrillary tangles, Neuronal loss in central nervous system |
OMIM:257220 |
Gerstmann-Straussler Disease |
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Cerebellar atrophy, Neurofibrillary tangles |
OMIM:137440 |
Spongiform Encephalopathy With Neuropsychiatric Features |
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Neurofibrillary tangles |
OMIM:606688 |
Dementia, Lewy Body |
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Lewy bodies |
OMIM:127750 |
Supranuclear Palsy, Progressive, 1 |
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Neurofibrillary tangles, Cerebral atrophy, Neuronal loss in central nervous system, Senile plaque... |
OMIM:601104 |
Parkinson Disease, Late-Onset |
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Lewy bodies, Neuronal loss in central nervous system |
OMIM:168600 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
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Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
Supranuclear Palsy, Progressive, 2 |
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Neurofibrillary tangles, Neuronal loss in central nervous system, Granulovacuolar degeneration |
OMIM:609454 |
Primary Progressive Freezing Gait |
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Cerebral cortical atrophy, Lewy bodies |
ORPHA:75567 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
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Lewy bodies |
OMIM:614251 |
Parkinson Disease 21 |
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Lewy bodies |
OMIM:616361 |
Adult-Onset Dystonia-Parkinsonism |
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Generalized cerebral atrophy/hypoplasia, Frontotemporal cerebral atrophy, Neurofibrillary tangles |
ORPHA:199351 |
Parkinson Disease 1, Autosomal Dominant |
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Global brain atrophy, Lewy bodies |
OMIM:168601 |
Parkinson Disease 4, Autosomal Dominant |
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Lewy bodies |
OMIM:605543 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Lewy bodies, Cerebral atrophy |
OMIM:600116 |
Parkinson Disease 8, Autosomal Dominant |
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Lewy bodies |
OMIM:607060 |
Niemann-Pick Disease, Type C2 |
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Neurofibrillary tangles |
OMIM:607625 |
Waisman Syndrome |
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Lewy bodies |
OMIM:311510 |
Hereditary Late-Onset Parkinson Disease |
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Cerebral cortical atrophy, Lewy bodies |
ORPHA:411602 |
Early-Onset Lafora Body Disease |
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Lafora bodies |
ORPHA:324290 |
Parkinsonian-Pyramidal Syndrome |
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Lewy bodies |
ORPHA:171695 |
Lafora Disease |
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Lafora bodies, Brain atrophy |
ORPHA:501 |
Epilepsy, Progressive Myoclonic, 10 |
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Lafora bodies |
OMIM:616640 |
Myoclonic Epilepsy Of Lafora 1 |
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Lafora bodies |
OMIM:254780 |