Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Symmetrical progressive periphe... |
ORPHA:208981 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Peripheral demyelination, CNS demyelination |
OMIM:165200 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Leukocytosis, Demyelinating motor ne... |
ORPHA:206594 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... |
OMIM:606483 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Null Syndrome |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy, Abnormal... |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... |
OMIM:608340 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation |
OMIM:618279 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... |
OMIM:607706 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity |
OMIM:162500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis |
OMIM:608634 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy |
OMIM:311070 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... |
OMIM:605588 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormality of neutrophils, Abnormal macrophage morphology |
ORPHA:2690 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis |
OMIM:606777 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... |
OMIM:604563 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... |
ORPHA:99953 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... |
ORPHA:71277 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Peripheral demyelination, Axonal loss |
OMIM:616684 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Peripheral demyelination |
OMIM:607736 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Peripher... |
ORPHA:101097 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis |
OMIM:606183 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Abetalipoproteinemia |
|
Peripheral demyelination, Acanthocytosis, CNS demyelination |
OMIM:200100 |
Laryngeal Abductor Paralysis |
|
Paralysis |
OMIM:308850 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased nerve conductio... |
OMIM:601455 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, De... |
OMIM:618184 |
Pleoconial Myopathy With Salt Craving |
|
Paralysis |
OMIM:262900 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased moto... |
OMIM:600882 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Autoimmune thrombocytopenia, Optic atrophy, CNS demyelinatio... |
OMIM:245200 |
Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis |
OMIM:612740 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia |
OMIM:608898 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy |
OMIM:615035 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination |
OMIM:258650 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocity, Perip... |
OMIM:604168 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
ORPHA:497764 |
Galloway-Mowat Syndrome 5 |
|
Pachygyria, Peripheral demyelination |
OMIM:617731 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:252320 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination |
ORPHA:71211 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... |
ORPHA:98856 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Peripheral demyelination, Axonal loss |
OMIM:617672 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Paralysis |
OMIM:105500 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis |
ORPHA:640 |
Tangier Disease |
|
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination, Splenomegaly |
OMIM:205400 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Vocal cord paralysis |
OMIM:607641 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Peripheral demyelination, Axonal loss |
OMIM:221770 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination |
ORPHA:101082 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Paralysis, Athetosis |
OMIM:300857 |
Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis |
OMIM:616286 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Peripheral demyelination, CNS demyelination |
OMIM:220111 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination |
OMIM:609033 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis |
ORPHA:681 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Axonal loss |
OMIM:614455 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Decreased nerve conduction velocity |
OMIM:615284 |
Trigeminal Neuralgia |
|
Cranial nerve compression, Peripheral demyelination, CNS demyelination |
ORPHA:221091 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Axon... |
OMIM:604484 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Abnormality of peripheral nerve conduction, Decreased number of large peripheral myelinated nerve... |
ORPHA:90103 |
Spinocerebellar Ataxia Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... |
ORPHA:98757 |
Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis |
ORPHA:140989 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... |
OMIM:302800 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axonal de... |
OMIM:608720 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... |
OMIM:218000 |
Adult Krabbe Disease |
|
Peripheral demyelination, CNS demyelination |
ORPHA:206448 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Leukodystrophy, Hypomyelinating, 5 |
|
Leukodystrophy, Decreased motor nerve conduction velocity, CNS hypomyelination, Onion bulb formation |
OMIM:610532 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Leukodystrophy, Symmetric peripheral demyelination |
OMIM:169500 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:250100 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Multiple Sulfatase Deficiency |
|
CNS demyelination, Peripheral demyelination, Splenomegaly |
OMIM:272200 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Demyelinating peripheral neuropathy, Decr... |
OMIM:609136 |
Gm2-Gangliosidosis, Ab Variant |
|
Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... |
OMIM:272750 |
Peho Syndrome |
|
Optic atrophy, Pachygyria, Polymicrogyria, Peripheral dysmyelination |
OMIM:260565 |
Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... |
OMIM:162400 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:614116 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation |
ORPHA:2821 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Abnormality of perip... |
ORPHA:168563 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... |
ORPHA:320406 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Poor fine motor coordination, Hand tremor, Babinski sign, Frequent falls, Postural tremor, Vocal ... |
ORPHA:99947 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Motor axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Sensory axonal n... |
OMIM:256850 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... |
OMIM:270550 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:604360 |
Autosomal Spastic Paraplegia Type 58 |
|
Peripheral demyelination |
ORPHA:397946 |
Paragangliomas 2 |
|
Vocal cord paralysis |
OMIM:601650 |
X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hemiparesis, Progressive spastic paraparesis, Paralysis, Incoordination |
ORPHA:43 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Peripheral demyelination, Axonal loss |
OMIM:252160 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Severe demyelination of the white matter, Optic atrophy, Neutropenia, Throm... |
ORPHA:79282 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... |
OMIM:201300 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Paralysis, Respiratory paralysis |
ORPHA:449285 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... |
ORPHA:298 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Myoclonus, Paralysis |
ORPHA:83601 |
Glutaric Acidemia I |
|
Delayed myelination, Symmetrical progressive peripheral demyelination |
OMIM:231670 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Machado-Joseph Disease Type 1 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... |
ORPHA:276241 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Peripheral demyelination, Axonal loss |
OMIM:252150 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:256810 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... |
OMIM:208920 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Machado-Joseph Disease Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Abnormal... |
ORPHA:276244 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Delayed peripheral myelination |
ORPHA:464282 |
Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Decreased nerve conduction velocity, Peripheral hypomyelination, Sen... |
OMIM:618733 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Amyotrophic Lateral Sclerosis |
|
Paralysis, Spasticity |
ORPHA:803 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Peripheral demyelination |
ORPHA:171629 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Periphera... |
ORPHA:254930 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Japanese Encephalitis |
|
Hypertonia, Opisthotonus, Respiratory paralysis, Pill-rolling tremor, Myoclonus, Weakness due to ... |
ORPHA:79139 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Sensory axonal neuropathy, Abnormal motor nerve conduction veloc... |
ORPHA:466768 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Skin ras... |
ORPHA:542323 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Neurofibromas, Leukodystrophy, Delayed myelination, Peripheral demyelination |
OMIM:619475 |
Porphyria, Acute Intermittent |
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Paralysis, Respiratory paralysis |
OMIM:176000 |
Autosomal Recessive Spastic Paraplegia Type 55 |
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Optic atrophy, Optic neuropathy, Decreased sensory nerve conduction velocity, Onion bulb formation |
ORPHA:320375 |
Charcot-Marie-Tooth Disease Type 1F |
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Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:101085 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Hypertonia, Ataxia, Paralysis, Myoclonus |
OMIM:203700 |
Sweet Syndrome |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Ataxia, Clumsiness, Ankle clonus, Knee clonus, Tongue fasciculations, Vocal cord paralysis |
OMIM:211530 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Segmental peripheral demyelination/remyelination, Optic atrophy, Demyelinating peripheral neuropathy |
ORPHA:255210 |
East Syndrome |
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Peripheral axonal neuropathy, Peripheral hypomyelination |
ORPHA:199343 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
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Paralysis |
OMIM:242100 |
Hyperkalemic Periodic Paralysis |
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Hypertonia, Cerebral palsy, Periodic hyperkalemic paralysis, Fasciculations |
ORPHA:682 |
Poliomyelitis |
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Paraparesis, Fasciculations, Hyperkinetic movements, Paralysis |
ORPHA:2912 |
Paramyotonia Congenita Of Von Eulenburg |
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Periodic hypokalemic paresis |
ORPHA:684 |
Thyrotoxic Periodic Paralysis |
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Respiratory paralysis, Periodic hypokalemic paresis, Tremor, Paralysis, Tetraplegia |
ORPHA:79102 |
Encephalocraniocutaneous Lipomatosis |
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Hemiplegia, Hypertonia, Rigidity, Hemiparesis, Spasticity, Paralysis, Tetraplegia |
ORPHA:2396 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity |
ORPHA:477817 |
Cockayne Syndrome B |
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Abnormal peripheral myelination, Decreased nerve conduction velocity, Splenomegaly, Patchy demyel... |
OMIM:133540 |
Andersen-Tawil Syndrome |
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Periodic paralysis, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis |
ORPHA:37553 |
Cockayne Syndrome A |
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Abnormal peripheral myelination, Decreased nerve conduction velocity, Splenomegaly, Patchy demyel... |
OMIM:216400 |
Non-Functioning Paraganglioma |
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Tremor, Vocal cord paralysis |
ORPHA:94080 |
Tick-Borne Encephalitis |
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Hyperkinetic movements, Tremor, Speech apraxia, Paralysis, Incoordination, Tongue fasciculations |
ORPHA:297 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... |
ORPHA:85436 |
Rift Valley Fever |
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Paraparesis, Paralysis, Decerebrate rigidity, Hemiparesis |
ORPHA:319251 |
Charcot-Marie-Tooth Disease Type 4C |
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Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity, Facial paralysis,... |
ORPHA:99949 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
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Chronic axonal neuropathy, Peripheral hypomyelination |
OMIM:612780 |
Bohring-Opitz Syndrome |
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Gray matter heterotopia, Delayed peripheral myelination |
OMIM:605039 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
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Myoclonus, Vocal cord paralysis, Spasticity |
ORPHA:500144 |
Paragangliomas 3 |
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Vocal cord paralysis |
OMIM:605373 |
Gitelman Syndrome |
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Ataxia, Paralysis |
OMIM:263800 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Periodic paralysis, Periodic hypokalemic paresis |
OMIM:170390 |
Anaplastic Thyroid Carcinoma |
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Vocal cord paralysis |
ORPHA:142 |
Paragangliomas 1 |
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Vocal cord paralysis |
OMIM:168000 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings |
ORPHA:99956 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hypertonia, Azoospermia, Limb ataxia, Spastic paraplegia, Paralysis, Oculomotor apraxia |
ORPHA:2072 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Decreased number of small peripheral myelinated nerve fibers |
OMIM:256800 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Vocal cord paralysis |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Vocal cord paralysis |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
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Vocal cord paralysis |
ORPHA:261 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Tremor, Vocal cord paralysis |
ORPHA:276621 |
Distal Renal Tubular Acidosis |
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Paralysis |
ORPHA:18 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Decreased number of large peripheral myelinated nerve fibers |
OMIM:223900 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Ataxia, Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Vocal cord paralysis |
OMIM:617799 |
Arnold-Chiari Malformation Type I |
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Babinski sign, Progressive cerebellar ataxia, Vocal cord paralysis, Gait ataxia |
ORPHA:268882 |
Pineoblastoma |
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Paralysis |
ORPHA:251909 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Delayed peripheral myelination |
ORPHA:364577 |
Osteopetrosis, Autosomal Recessive 3 |
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Periodic hypokalemic paresis |
OMIM:259730 |
African Trypanosomiasis |
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Hemiparesis, Tremor, Choreoathetosis, Involuntary movements, Paralysis, Fasciculations, Abnormal ... |
ORPHA:3385 |
Gitelman Syndrome |
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Paralysis |
ORPHA:358 |
Glossopharyngeal Neuralgia |
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Vocal cord paralysis |
ORPHA:221098 |
Hereditary Pheochromocytoma-Paraganglioma |
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Tremor, Vocal cord paralysis |
ORPHA:29072 |
Choreoacanthocytosis |
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Splenomegaly, Peripheral axonal neuropathy, Abnormal erythrocyte enzyme level, Acanthocytosis, De... |
ORPHA:2388 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion |
ORPHA:567983 |
Igg4-Related Thyroid Disease |
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Vocal cord paralysis |
ORPHA:64744 |
Tyrosinemia, Type I |
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Periodic paralysis |
OMIM:276700 |
Tsh-Secreting Pituitary Adenoma |
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Tremor, Periodic hypokalemic paresis |
ORPHA:91347 |
Feingold Syndrome 1 |
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Vocal cord paralysis |
OMIM:164280 |
Schinzel-Giedion Syndrome |
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Hypertonia, Vocal cord paralysis, Spasticity |
ORPHA:798 |
Degcags Syndrome |
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Vocal cord paralysis |
OMIM:619488 |
Williams-Beuren Syndrome |
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Incoordination, Vocal cord paralysis, Poor coordination |
OMIM:194050 |