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 |
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Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
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Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
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Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
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Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Symmetrical progressive periphe... |
ORPHA:208981 |
Charcot-Marie-Tooth Disease, Type 4A |
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Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
Immunodeficiency 11 |
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Decreased circulating antibody level, Pneumonia |
OMIM:615206 |
Optic Atrophy With Demyelinating Disease Of Cns |
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Optic atrophy, Peripheral demyelination, CNS demyelination |
OMIM:165200 |
Indolent Systemic Mastocytosis |
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Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopapular exanthema, Mastocytosis, In... |
ORPHA:98848 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
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Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... |
OMIM:606483 |
Immunodeficiency 86 |
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Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Motor conduction block, Decreased nerve conduction velocity, Demyelinating motor neuropathy, Decr... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
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Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
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Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
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Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Roussy-Levy Hereditary Areflexic Dystasia |
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Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
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Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
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Abnormal peripheral myelination |
OMIM:147530 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
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Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
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Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
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Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Methionine Adenosyltransferase I/Iii Deficiency |
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Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Null Syndrome |
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Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy, Abnormal... |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
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Onion bulb formation, Axonal regeneration |
OMIM:615185 |
Chronic Inflammatory Demyelinating Polyneuropathy |
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Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
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Cutaneous mastocytosis |
ORPHA:280794 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
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Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... |
OMIM:608340 |
Neuropathy, Hereditary Sensory, X-Linked |
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Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
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Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
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Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... |
OMIM:145900 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
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Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
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Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Specific Granule Deficiency 1 |
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Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Autoimmune Disease |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Paraparetic Variant Of Guillain-Barré Syndrome |
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Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
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Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
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Onion bulb formation |
OMIM:616039 |
Pemphigus Vulgaris, Familial |
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Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Charcot-Marie-Tooth Disease, Type 4J |
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Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
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Onion bulb formation |
OMIM:618279 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
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Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
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Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
Neuromyelitis Optica Spectrum Disorder |
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Autoimmune antibody positivity, Peripheral demyelination |
ORPHA:71211 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
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Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
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Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity |
OMIM:162500 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
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Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy |
OMIM:311070 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
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Onion bulb formation, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
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Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... |
OMIM:605588 |
Charcot-Marie-Tooth Disease, Type 4H |
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Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:609311 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... |
OMIM:247800 |
Combined Immunodeficiency, X-Linked |
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Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... |
OMIM:312863 |
Charcot-Marie-Tooth Disease, Type 4B2 |
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Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... |
OMIM:604563 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
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Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Charcot-Marie-Tooth Disease Type 4G |
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Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... |
ORPHA:99953 |
Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Motor Neuropathy, Peripheral, With Dysautonomia |
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Cyanosis, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:252320 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
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Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
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Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Aggressive Systemic Mastocytosis |
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Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... |
ORPHA:98850 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
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Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Peripher... |
ORPHA:101097 |
Bullous Diffuse Cutaneous Mastocytosis |
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Cardiorespiratory arrest, Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:610100 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly |
ORPHA:66661 |
Charcot-Marie-Tooth Disease, Type 4K |
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Peripheral demyelination, Axonal loss |
OMIM:616684 |
Krabbe Disease |
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Decreased nerve conduction velocity, Autoimmune thrombocytopenia, Optic atrophy, CNS demyelinatio... |
OMIM:245200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
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Axonal degeneration/regeneration, Peripheral demyelination |
OMIM:607736 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
Neuropathy, Congenital Hypomyelinating, 2 |
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Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, De... |
OMIM:618184 |
Mastocytosis, Cutaneous |
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Cutaneous mastocytosis |
OMIM:154800 |
Charcot-Marie-Tooth Disease, Type 4D |
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Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased nerve conductio... |
OMIM:601455 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
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Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased moto... |
OMIM:600882 |
X-Linked Lymphoproliferative Disease |
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Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Myocarditis, Increased proportion of CD25+ ... |
ORPHA:2442 |
Spastic Paraplegia 55, Autosomal Recessive |
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Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy |
OMIM:615035 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocity, Perip... |
OMIM:604168 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
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Optic atrophy, Peripheral demyelination |
OMIM:258650 |
Focal Facial Dermal Dysplasia Type Iv |
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Abnormal mast cell morphology |
ORPHA:398189 |
Spinocerebellar Ataxia Type 43 |
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Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
ORPHA:497764 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
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Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Granulomatous disease with defect in neutrophil chemotaxis |
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Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Peripheral demyelination, Axonal loss |
OMIM:617672 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... |
ORPHA:98856 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
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Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Immunoglobulin A Deficiency 2 |
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Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
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Cutaneous mastocytosis |
OMIM:248910 |
Aregenerative Anemia |
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Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... |
ORPHA:101096 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
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Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Insulin Autoimmune Syndrome |
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Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... |
ORPHA:411593 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Skin ras... |
ORPHA:542323 |
Congenital Disorder Of Glycosylation, Type Iic |
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Periodontitis, Neutrophilia, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility |
OMIM:266265 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Peripheral demyelination, Axonal loss |
OMIM:221770 |
Galloway-Mowat Syndrome 5 |
|
Peripheral demyelination |
OMIM:617731 |
Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination |
OMIM:200100 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
Mastocytosis |
|
Asthma, Splenomegaly, Respiratory insufficiency, Mastocytosis, Cough, Chronic leukemia, Acute leu... |
ORPHA:98292 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination |
ORPHA:101082 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Autoimmunity |
OMIM:613652 |
Tangier Disease |
|
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination |
OMIM:205400 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Periodontitis, Neutropenia, Recurrent bacterial skin infections, V... |
ORPHA:167 |
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 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... |
OMIM:618986 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Axonal loss |
OMIM:614455 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
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 |
Hennekam-Beemer Syndrome |
|
Respiratory insufficiency, Pneumonia, Mastocytosis |
ORPHA:2135 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Axon... |
OMIM:604484 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Abnormality of peripheral nerve conduction, Decreased number of large peripheral myelinated nerve... |
ORPHA:90103 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Eczema, Lymphadenitis, H... |
OMIM:618935 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... |
OMIM:302800 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Adult Krabbe Disease |
|
Peripheral demyelination, CNS demyelination |
ORPHA:206448 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... |
OMIM:218000 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin |
ORPHA:542592 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Leukodystrophy, Symmetric peripheral demyelination |
OMIM:169500 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:250100 |
Leukodystrophy, Hypomyelinating, 5 |
|
Leukodystrophy, Decreased motor nerve conduction velocity, CNS hypomyelination, Onion bulb formation |
OMIM:610532 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axonal de... |
OMIM:608720 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Demyelinating peripheral neuropathy, Decr... |
OMIM:609136 |
Multiple Sulfatase Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:272200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... |
OMIM:162400 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impaired neutrophil ... |
OMIM:613470 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Rheumatoid arthritis, Abnormal circulating interleukin concentration, Autoimmunity, Antinuclear a... |
ORPHA:85410 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:614116 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Abnormality of perip... |
ORPHA:168563 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:604360 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Motor axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Sensory axonal n... |
OMIM:256850 |
Autosomal Spastic Paraplegia Type 58 |
|
Peripheral demyelination |
ORPHA:397946 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233710 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... |
OMIM:270550 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Peripheral demyelination, Axonal loss |
OMIM:252160 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... |
ORPHA:320406 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... |
OMIM:233690 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... |
OMIM:201300 |
Glutaric Acidemia I |
|
Delayed myelination, Symmetrical progressive peripheral demyelination |
OMIM:231670 |
Peho Syndrome |
|
Optic atrophy, Peripheral dysmyelination |
OMIM:260565 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Peripheral demyelination, Axonal loss |
OMIM:252150 |
Chediak-Higashi Syndrome |
|
Periodontitis, Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dens... |
OMIM:214500 |
Granulomatous Disease, Chronic, X-Linked |
|
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der... |
OMIM:306400 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... |
ORPHA:298 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation |
ORPHA:2821 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... |
ORPHA:2968 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:256810 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Severe demyelination of the white matter, Peripheral demyelination |
ORPHA:79282 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... |
OMIM:208920 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Delayed peripheral myelination |
ORPHA:464282 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Peripheral demyelination |
ORPHA:171629 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... |
ORPHA:79480 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Periphera... |
ORPHA:254930 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Sensory axonal neuropathy, Abnormal motor nerve conduction veloc... |
ORPHA:466768 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurofibromas, Leukodystrophy, Delayed myelination, Peripheral demyelination |
OMIM:619475 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:101085 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Demyelinating peripheral neuropathy |
ORPHA:255210 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic atrophy, Optic neuropathy, Decreased sensory nerve conduction velocity, Onion bulb formation |
ORPHA:320375 |
Neuromuscular Oculoauditory Syndrome |
|
Sensory axonal neuropathy, Decreased nerve conduction velocity, Peripheral hypomyelination, Decre... |
OMIM:618733 |
East Syndrome |
|
Peripheral axonal neuropathy, Peripheral hypomyelination |
ORPHA:199343 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity |
ORPHA:477817 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Decreased nerve conduction velocity, Patchy demyelination of sub... |
OMIM:133540 |
Cockayne Syndrome A |
|
Abnormal peripheral myelination, Decreased nerve conduction velocity, Patchy demyelination of sub... |
OMIM:216400 |
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 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Decreased number of large peripheral myelinated nerve fibers, Acrocyanosis |
OMIM:223900 |
Bohring-Opitz Syndrome |
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Delayed peripheral myelination |
OMIM:605039 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings |
ORPHA:99956 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion, Splenomegaly |
ORPHA:567983 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Decreased number of small peripheral myelinated nerve fibers |
OMIM:256800 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Delayed peripheral myelination |
ORPHA:364577 |
Choreoacanthocytosis |
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Decreased amplitude of sensory action potentials, Decreased number of peripheral myelinated nerve... |
ORPHA:2388 |