Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased sensory nerve conduction velocity, Decreased nerve conduction v... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Flexion contracture, Proximal muscle weakness in lower limbs, Onion bulb formation, Decreased mot... |
OMIM:607706 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Babinski sign, Frequent falls, Decreased compound muscle action potential amplitude, Chaddock ref... |
OMIM:619112 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, On... |
OMIM:601098 |
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-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Amyotrophy of ankle musculature, In... |
ORPHA:90103 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Hypertonia, Decreased sensory nerve conduction velocity, Flexion contr... |
OMIM:609260 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand muscle weakness, Segmental peripheral demyelination/remyelination, Decreased motor nerve con... |
OMIM:162500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Hereditary Motor And Sensory Neuropathy V |
|
Hypertonia, Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Pe... |
OMIM:600361 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym... |
OMIM:247630 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of the Achilles tendon, Babinski sign, Optic atrophy, Spastic paraplegia, Spasticity,... |
ORPHA:431329 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Dist... |
OMIM:605253 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness, Spi... |
OMIM:615575 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Smal... |
OMIM:609311 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Hand muscle weakness, Intrinsic hand muscle atrophy, Demyelinating peripheral neuropathy, Spastic... |
ORPHA:101077 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Hand muscle weakness, Decreased sensory nerve conduction velocity, Decreased motor nerve conducti... |
OMIM:608323 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Foot dorsifl... |
OMIM:118200 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Null Syndrome |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Progressive spa... |
ORPHA:280234 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Hand muscle weakness, Motor conduction block, Decreased nerve conduction velocity, Segmental peri... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Hand muscl... |
ORPHA:98856 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Distal Hereditary Motor Neuropathy Type 5 |
|
First dorsal interossei muscle atrophy, Thenar muscle weakness, Distal amyotrophy, Abnormal motor... |
ORPHA:139536 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Foot ... |
OMIM:605588 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations, ... |
OMIM:183050 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Foot dorsiflexor weaknes... |
OMIM:613287 |
Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... |
ORPHA:99953 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Abnormal motor evoked potentials, Decreased nerve conduction velocity, Demyelinating motor neurop... |
ORPHA:99939 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal amy... |
OMIM:601382 |
Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Skeletal muscle atrophy, Decreased nerve conduction velocity |
ORPHA:868 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Distal amyotrophy, U... |
OMIM:302802 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction, Skeletal muscle atrophy, Decreased... |
OMIM:612577 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Hand muscle weakness, Babinski sign, Abnormality of the foot musculature, Hand muscle atrophy, Fo... |
ORPHA:100998 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... |
OMIM:608106 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... |
OMIM:302801 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Weakness of facial musculature, Foot dorsiflexor weakness, Wrist flexion contracture, Weakness of... |
OMIM:619519 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral dem... |
ORPHA:99944 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Krabbe Disease |
|
Hypertonia, EEG abnormality, Decreased nerve conduction velocity, Decerebrate rigidity, Autoimmun... |
OMIM:245200 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Thenar muscle atrophy, Decreased nerve conduction velocity, Hand tremor, Lower limb muscle weakne... |
ORPHA:352675 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Hand muscle weakness, Intrinsic hand muscle atrophy, Peroneal muscle w... |
ORPHA:101097 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Di... |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... |
OMIM:607678 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Foot dorsiflexor weakness, Distal amyotr... |
OMIM:616040 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Tremor, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Abnormal nerve conduc... |
ORPHA:101075 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:614751 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Onion bulb formation, Decreased motor nerve conduction velocity, Distal amyotrop... |
OMIM:618184 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Proximal muscle weakness in lower limbs, Decreased amplitude of sensory action potentials, Decrea... |
OMIM:618912 |
Leukodystrophy, Hypomyelinating, 18 |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Flexion cont... |
OMIM:618404 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Distal upper limb amyotrophy, Abnormality of periphe... |
ORPHA:65684 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Babinski sign, Gait ataxia, CNS demyelination, Spastic tetra... |
OMIM:249900 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand muscle weakness, Dysmetria, Axonal degeneration, Hand tremor, Onion bulb format... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:605589 |
Roussy-Lévy Syndrome |
|
Intrinsic hand muscle atrophy, Clumsiness, Limb ataxia, Decreased motor nerve conduction velocity... |
ORPHA:3115 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, ... |
OMIM:600882 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Ataxia, Hemiparesis, Optic atrophy, CNS demyelination, Peripheral demyelination |
OMIM:165200 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level, Erythroid hypoplasia |
OMIM:242880 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Babinski sign, First dorsal interossei muscle atrophy,... |
OMIM:270685 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity |
ORPHA:101078 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating motor neuropathy, Lower limb muscle weakness, Demyelinating sensory neuropathy, Pro... |
ORPHA:208981 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... |
ORPHA:98890 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormal pyramidal sign, Lower limb muscle weakness, Spasticity, Apraxia, Abnormality of peripher... |
ORPHA:101001 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity, Babinski sign, Foot dorsiflexor weakness, Spinal muscu... |
OMIM:605726 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:604563 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Foot dorsiflexor weakness... |
OMIM:606483 |
Charcot-Marie-Tooth Disease Type 1A |
|
Demyelinating peripheral neuropathy, Decreased sensory nerve conduction velocity, Calf muscle hyp... |
ORPHA:101081 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Peripheral axonal neuropathy, P... |
ORPHA:101082 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... |
OMIM:618987 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Peripheral... |
DECIPHER:59 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Skeletal muscle hypertrophy, Optic atrophy, Tremor, Abnormal nerve conductio... |
ORPHA:99014 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... |
ORPHA:457205 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... |
DECIPHER:29 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Distal amyotrophy |
OMIM:608895 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Neutropenia, Decreased nerve conduction velocity, Dysmetria, Acute my... |
OMIM:159550 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor |
ORPHA:1368 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Limb... |
ORPHA:497764 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity |
ORPHA:1188 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Hypertonia, Ataxia, Clumsiness, Intrinsic hand muscle atrophy, Decreased motor nerve conduction v... |
OMIM:616688 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, ... |
OMIM:606595 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Poor fine motor coordination, Decreased nerve conduction velocity, Proximal muscle weakness in lo... |
ORPHA:435387 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... |
OMIM:607641 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Foot dorsifle... |
OMIM:608340 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Onion bulb formation, Distal amyotrophy, Spastic paraplegia, Demy... |
OMIM:182815 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Joint contracture of the hand, Distal amyotrophy, Optic atrophy, Gait ataxia, Distal upper limb a... |
OMIM:258650 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... |
ORPHA:139578 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocit... |
OMIM:604168 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy, Distal amy... |
OMIM:311070 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor, Hypomimic f... |
OMIM:619862 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Foot dorsiflexor wea... |
OMIM:613641 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Choreoathetosis, Skeletal muscle atrophy, Decreased nerve conduction velocity |
OMIM:614932 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:607271 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Limb muscle weakness, Decreased nerve conduction velocity |
OMIM:615284 |
Adult Krabbe Disease |
|
Hemiplegia, Ataxia, EEG abnormality, Clumsiness, Hoffmann sign, Babinski sign, Lower limb muscle ... |
ORPHA:206448 |
Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, Leukodystrophy, Decreased motor nerve conduction velocity, Peripheral axonal... |
OMIM:619851 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Demyelinating motor neuropathy, Spastic paraparesis, Intention tremor, Leukodystrophy, De... |
OMIM:608804 |
Charcot-Marie-Tooth Disease Type 1F |
|
Flexion contracture of finger, Demyelinating motor neuropathy, Limb ataxia, Proximal muscle weakn... |
ORPHA:101085 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... |
OMIM:252320 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axonal degenera... |
OMIM:618138 |
Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Autoimmune antibody positivity, Peripheral demyelination |
ORPHA:71211 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, D... |
OMIM:614436 |
Hyperimmunoglobulin G1(A1) Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level |
OMIM:144120 |
Charcot-Marie-Tooth Disease Type 4D |
|
Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity, Lower limb amyotr... |
ORPHA:99950 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... |
OMIM:614399 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Upper limb muscle weakness, Axonal degeneration... |
OMIM:607791 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Wild Type Abeta2M Amyloidosis |
|
Abnormality of the thenar eminence, Decreased nerve conduction velocity, Macroglossia, Abnormal t... |
ORPHA:85446 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Intrinsic hand muscle atrophy, Decreased nerve conduction velocity, EMG: myopath... |
ORPHA:329478 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Foot dorsiflexor wea... |
OMIM:607731 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Upper l... |
OMIM:607677 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Inte... |
OMIM:612674 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Dysmetria, Intention tremor, Myoclonus, ... |
OMIM:618356 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619924 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Hypertonia, Clumsiness, Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Slu... |
ORPHA:2386 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Di... |
OMIM:604320 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Flexion contracture, Decreased motor nerve conduction velocity, Foot dorsiflexor... |
OMIM:607684 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Babinski sign, Peripheral axonal neuropathy, Optic atrophy, Spastic paraple... |
OMIM:615035 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsiflexor weakness, Dista... |
OMIM:118300 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Decreased sensory nerve con... |
OMIM:270550 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Abnormality of peripheral nerve conduction, Spastic paraplegia |
ORPHA:101005 |
Cirrhosis, Familial |
|
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... |
OMIM:162400 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Optic neuropathy, Hand muscle weakness, Peroneal muscle weakness, Intrinsic hand muscle atrophy, ... |
ORPHA:101076 |
Leukodystrophy, Hypomyelinating, 5 |
|
Truncal titubation, Intention tremor, Leukodystrophy, Decreased motor nerve conduction velocity, ... |
OMIM:610532 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Spasticity, Abnormality of extra... |
OMIM:617672 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
EEG abnormality, Myoclonus, Babinski sign, Abnormal upper motor neuron morphology, Spasticity, Ap... |
OMIM:221770 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Foot dorsiflexor weakness |
OMIM:616039 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Neutropenia |
OMIM:615214 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Limb fa... |
ORPHA:90117 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Systemic lupus erythematosus, Intention tremor, Myoclonus, Rigidity, Giant somatosensory ... |
OMIM:618876 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy, Foot dorsiflexor w... |
OMIM:618400 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Skeletal muscle atrophy, Peripheral demyelination, Axonal loss |
OMIM:616684 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Fasciculations, Chore... |
ORPHA:98755 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Ataxia, Flexion contracture of finger, Decreased sensory nerve conduction velocity, Joint contrac... |
OMIM:609033 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Cerebral hypomyelination... |
OMIM:601170 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Frequent falls, Onion bulb formation |
OMIM:618279 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... |
OMIM:618534 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating total IgM, Abnormal circulati... |
OMIM:616636 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Foot dorsiflexor weakness, Axonal degeneration/regeneration, Peripheral demyelination, Distal amy... |
OMIM:607736 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Muscular dystrophy, Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculatur... |
ORPHA:2926 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... |
OMIM:300400 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Flexion contracture, Onion bulb for... |
OMIM:218000 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Decreased sensory nerve conduction velocity, Spastic paraparesis, Poor fine mot... |
ORPHA:320375 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle weakness, Decreased nerve conduction velocity, Orthostatic hypotension, Degenerat... |
OMIM:118301 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Delayed myelination, Decreased nerve conduction velocity, Type 2 muscle fiber at... |
ORPHA:319514 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Distal lower limb muscle weakness, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Multifocal Motor Neuropathy |
|
Fasciculations, Motor conduction block, Limb muscle weakness, Weakness of long finger extensor mu... |
ORPHA:641 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl... |
ORPHA:397744 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Motor axonal neuropathy, Ataxia, Dysmetria, Intention tremor, Camptodactyly of finger, Abnormal p... |
ORPHA:48431 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... |
OMIM:603472 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... |
ORPHA:600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Decrease... |
OMIM:603511 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Intention tremor, Babinski sign, Abnormal pyramidal si... |
ORPHA:397946 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Ataxia, Peripheral hypomyelination, Spasticity, Peripheral demyelination, Absent brainstem audito... |
OMIM:609136 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Limb ataxia, Dysmetria, Brady... |
OMIM:603516 |
Immunodeficiency 50 |
|
Neutropenia, Decreased circulating antibody level, Lymphopenia |
OMIM:300988 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... |
OMIM:619824 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal neuropathy, Distal am... |
OMIM:256840 |
Inclusion Body Myositis |
|
Abnormal muscle fiber morphology, Quadriceps muscle weakness, Rimmed vacuoles, Ragged-red muscle ... |
ORPHA:611 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Flexion contracture of finger, Proximal muscle weakness in lower... |
ORPHA:466768 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Decreased nerve conduction velocity |
ORPHA:2928 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level |
OMIM:619773 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased sensory nerve conduction velocity, Elevated hemoglobin A1c, Decreased motor nerve condu... |
OMIM:616192 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Autoimmunity, Decreased circulating antibody l... |
ORPHA:169079 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Tetraplegia, Babinski sign, Chorea, Optic atrophy, S... |
OMIM:250100 |
Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia |
ORPHA:66631 |
Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... |
OMIM:606070 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Paralysis, Knee flexion contracture, Arthrogryposis multiplex congenita, Skeleta... |
OMIM:616286 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, EEG abnormality, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, C... |
ORPHA:71277 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Sialidosis Type 1 |
|
Ataxia, EEG abnormality, Decreased nerve conduction velocity, Splenomegaly, Myoclonus, Tremor, Sk... |
ORPHA:812 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Progressive cerebellar ataxia, Babi... |
ORPHA:101111 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, EEG abnormality, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Para... |
OMIM:606777 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Autoimmune Lymphoproliferative Syndrome |
|
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Incre... |
OMIM:601859 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Spinocerebellar Ataxia 1 |
|
Progressive cerebellar ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Dysmetri... |
OMIM:164400 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Pseudobulbar paralysis, Autonomic erectile dysfunction, Orthostatic hypotension due to au... |
OMIM:169500 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity |
ORPHA:1933 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Abnormal pyramidal sign, Optic atrophy, Spastic tetrap... |
OMIM:615419 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity, Spastic paraparesis, Poor coordination, Abnormal pyramidal s... |
OMIM:238970 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Skeletal muscle atrophy, Peripheral axonal neuropathy |
OMIM:613710 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... |
OMIM:602433 |
Tangier Disease |
|
Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Peripheral axonal neuropathy, Distal... |
OMIM:205400 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Complete or near-complete absence of specific anti... |
OMIM:610163 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Distal amyotrophy, Optic atrophy, Optic disc pallor, L... |
OMIM:601152 |
Galloway-Mowat Syndrome 5 |
|
Ataxia, Spasticity, Peripheral demyelination |
OMIM:617731 |
Hurler-Scheie Syndrome |
|
Abnormal pyramidal sign, Splenomegaly, Abnormal nerve conduction velocity |
ORPHA:93476 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased sensory nerve conduction velocity, Flexion contracture, Decreased motor nerve conductio... |
OMIM:619026 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anti-thyroid peroxida... |
ORPHA:277 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... |
OMIM:201300 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... |
ORPHA:298 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Decreased number of periph... |
OMIM:604484 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Ankle clonus, Knee clonus, Babinski sign, Lower limb muscle weakness, Spastic paraplegia,... |
OMIM:604360 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Peripheral demyelination |
OMIM:616733 |
Immune Deficiency Disease |
|
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
EEG abnormality, Decreased nerve conduction velocity, Congenital foot contractures, Ankle clonus,... |
ORPHA:565624 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased... |
OMIM:308230 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Decreased nerve conduction velocity, Leukodystrophy, Decerebrate rigidity, Babinski s... |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Decreased nerve conduction velocity, Intention tremor, Leukodystrophy, Decerebrate ri... |
ORPHA:309263 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Multiple joint contractures, Exaggerated startle response, Peripheral axonal neuropathy, Distal a... |
ORPHA:320406 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Decreased nerve conduction velocity, Abnormal pyramidal sign, Optic atrophy, Spastic tetr... |
OMIM:256600 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Chronic axonal neuropathy, Increased circulating antibody level, Limb ataxia, Decreased motor ner... |
OMIM:606002 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Foot dorsiflexor weakness, Distal upper limb amyotrophy, Distal lower limb ... |
OMIM:614455 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Ataxia, Severe demyelination of the white matter, EEG with focal epileptiform discharges, Decreas... |
ORPHA:1187 |
Japanese Encephalitis |
|
Neutrophilia, EEG with burst suppression, Tremor, Cogwheel rigidity, Skeletal muscle atrophy, Int... |
ORPHA:79139 |
Bickerstaff Brainstem Encephalitis |
|
Ataxia, EEG abnormality, Weakness of facial musculature, Decreased motor nerve conduction velocit... |
ORPHA:79138 |
Chediak-Higashi Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Hemophagocytosis, Splenomegaly, Abnormal dense granu... |
OMIM:214500 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... |
OMIM:301082 |
Lethal Congenital Contracture Syndrome 5 |
|
Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve conduction ve... |
OMIM:615368 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hand muscle weakness, Poor fine motor coordination, Hand tremor, Flexion contracture, Quadriceps ... |
ORPHA:99947 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemiparesis... |
ORPHA:444463 |
Neuromuscular Oculoauditory Syndrome |
|
Muscle fiber necrosis, Decreased nerve conduction velocity, Peripheral hypomyelination, Calf musc... |
OMIM:618733 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... |
OMIM:614470 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tremor, Ataxia, Peripheral demyelination, CNS demyelination |
OMIM:220111 |
Yuan-Harel-Lupski Syndrome |
|
Gait ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity |
OMIM:616652 |
Scheie Syndrome |
|
Cerebral palsy, Splenomegaly, Spastic paraparesis, Abnormal nerve conduction velocity |
ORPHA:93474 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Abnormal autonomic nervous system physiology, Flexion contracture, Abnormal pyramidal sig... |
ORPHA:35069 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Decreased nerve conduction velocity, Intention tremor, Leukodystrophy, Decerebrate ri... |
ORPHA:309271 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... |
OMIM:617006 |
Pleoconial Myopathy With Salt Craving |
|
Paralysis, Myopathy, Proximal amyotrophy |
OMIM:262900 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:618394 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... |
OMIM:209950 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Abetalipoproteinemia |
|
Ataxia, Acanthocytosis, Peripheral demyelination, CNS demyelination |
OMIM:200100 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Spasticit... |
ORPHA:485421 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... |
ORPHA:206436 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Skeletal muscle atro... |
ORPHA:168563 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
Rasmussen Subacute Encephalitis |
|
EEG with focal spikes, Continuous spike and waves during slow sleep, Increased theta frequency ac... |
ORPHA:1929 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign, Foot dorsiflexor weakness, Optic atro... |
ORPHA:171629 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Friedreich Ataxia |
|
Poor fine motor coordination, Limb ataxia, Dysmetria, Intention tremor, Decreased motor nerve con... |
ORPHA:95 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Increased circulatin... |
OMIM:603909 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased muscle mass, Axonal degeneration, Peripheral axonal neuropathy, Decreased number of per... |
OMIM:615490 |
Cerebrotendinous Xanthomatosis |
|
Paraparesis, Ataxia, Hypermyelinated retinal nerve fibers, Axonal degeneration, Babinski sign, Op... |
ORPHA:909 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Lymphopenia, Sple... |
OMIM:616100 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Ataxia, Spastic paraparesis, Abnormal pyramidal sign, Peripheral axonal neuropat... |
ORPHA:254930 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Abnormal autonomic nervous system physiology, Myoclonus, Paralysis, Hashimoto thyro... |
ORPHA:83601 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Flexion contracture of finger, Truncal titubation, Axonal degeneration, Camptodactyly, Ga... |
ORPHA:88628 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis, Leukocytosis |
ORPHA:90064 |
Charcot-Marie-Tooth Disease Type 1E |
|
Peroneal muscle weakness, Hand muscle weakness, Demyelinating peripheral neuropathy, Decreased ne... |
ORPHA:90658 |
Trigeminal Neuralgia |
|
Cranial nerve compression, Peripheral demyelination, CNS demyelination |
ORPHA:221091 |
Poliomyelitis |
|
Paraparesis, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Hyperkinetic mov... |
ORPHA:2912 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... |
ORPHA:411593 |
Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Parkinsonism, Pseudopapilledema, Hemiparesis, Tetraparesis, Paralysis |
ORPHA:140989 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Distal amyotrophy, Gait ataxia, Pa... |
OMIM:606183 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Abnor... |
ORPHA:331206 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Amyotrophic lateral sclerosis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis... |
OMIM:105550 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169154 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Paralysis, Axonal loss |
OMIM:300857 |
Friedreich Ataxia |
|
Ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Babinski sign, Optic atrophy, D... |
OMIM:229300 |
Charcot-Marie-Tooth Disease Type 4C |
|
Demyelinating peripheral neuropathy, Weakness of facial musculature, Decreased motor nerve conduc... |
ORPHA:99949 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Abnormal pyramidal sign, Sensory axonal neuropathy, Distal amyotrophy, Spastic paraplegia, Decrea... |
OMIM:256850 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... |
ORPHA:275872 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Lymphad... |
OMIM:618495 |
Warburg Micro Syndrome 4 |
|
Flexion contracture, Decreased motor nerve conduction velocity, Babinski sign, Optic atrophy, Spa... |
OMIM:615663 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Decreased circulating IgA level, Defective T cell proliferatio... |
OMIM:619774 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Foot... |
ORPHA:477817 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Enlarged tonsils, ... |
OMIM:616005 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Neutropenia i... |
ORPHA:572 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... |
OMIM:619632 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Ataxia, EEG abnormality, Decreased sensory nerve conduction velocity, Dysmetria, Joint contractur... |
ORPHA:456312 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Distal lower limb muscle weakness |
OMIM:613640 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity |
OMIM:243000 |
Immunodeficiency 92 |
|
Decreased circulating IgA level, Abnormal B cell proliferation, Hepatomegaly, Decreased circulati... |
OMIM:619652 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Foot dorsiflexor weakness, Shoulder girdle muscle atrophy, Distal amyotrophy... |
OMIM:606071 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Limb ataxia, Axonal degener... |
OMIM:208920 |
Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Ataxia, Abnormal CNS myelination, Decreased nerve conduction velocity |
OMIM:610651 |
Spinocerebellar Ataxia 25 |
|
Ataxia, Babinski sign, Facial myokymia, Decreased number of peripheral myelinated nerve fibers, O... |
OMIM:608703 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619510 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Ataxia, Neutropenia, Decreased nerve conduction velocity, Abnormal... |
ORPHA:167 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Paralysis, Respiratory paralysis |
OMIM:612740 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:619802 |
Tick-Borne Encephalitis |
|
Leukocytosis, Abnormal autonomic nervous system physiology, Leukopenia, Hyperkinetic movements, I... |
ORPHA:297 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... |
ORPHA:169160 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Hand muscle weakness, Poor fine motor coordination, Proximal muscle weakness in lower limbs, Weak... |
ORPHA:99956 |
Peho Syndrome |
|
Optic atrophy, Myoclonus, Peripheral dysmyelination, Hypsarrhythmia |
OMIM:260565 |
Multiple Sulfatase Deficiency |
|
Ataxia, Splenomegaly, Spasticity, CNS demyelination, Peripheral demyelination |
OMIM:272200 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypertonia, Ataxia, Systemic lupus erythematosus, Lymphopenia, Spastic paraparesis, Cerebral pals... |
ORPHA:760 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Abnormality of the autonomic nervous system, Foot dorsiflexor weakness, Distal amyotrophy, Decrea... |
ORPHA:36386 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... |
ORPHA:276 |
Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypertonia, Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Peripheral demyelination, Axonal... |
OMIM:252160 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Ataxia, Leukopenia, Tetraparesis, Optic atrophy, Macrocytic anemia, Choreoathetosis,... |
ORPHA:27 |
Pgm3-Cdg |
|
Ataxia, Abnormal proportion of CD8-positive T cells, Rheumatoid factor positive, Bone marrow hypo... |
ORPHA:443811 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... |
OMIM:618048 |
Hurler Syndrome |
|
Spastic paraparesis, Splenomegaly, Macroglossia, Cerebral palsy, Abnormal pyramidal sign, Camptod... |
ORPHA:93473 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Thymic Tumor |
|
Neuroendocrine neoplasm, Diaphragmatic paralysis, Autoimmunity, Dysgammaglobulinemia |
ORPHA:100100 |
Wilson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Decreased nerve conduction veloc... |
OMIM:277900 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Ataxia, Limb ataxia, Abnormal autonomic nervous system physiology, Decreased distal sensory nerve... |
OMIM:614575 |
Peroxisome Biogenesis Disorder 4B |
|
Optic atrophy, Ataxia, Decreased nerve conduction velocity |
OMIM:614863 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Decerebrate rigidity, Progressive spasticity, Tremor... |
ORPHA:512 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Ataxia, Severe demyelination of the white matter, Poor fine motor coordinat... |
ORPHA:79282 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Glutaric Acidemia I |
|
Delayed myelination, Opisthotonus, Spastic diplegia, Rigidity, Choreoathetosis, Symmetrical progr... |
OMIM:231670 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619752 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Orthostatic hypotension, Decreased number of peripheral myelinated nerve fibers, Peripheral axona... |
OMIM:608720 |
Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Chorea, Tremor, Spasticity, Postural tremor, Tongue f... |
ORPHA:99 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:275350 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Opisthotonus, Myoclonic spasms, Spastic tetraplegia, Spastic tetraparesis, Peripheral demyelinati... |
OMIM:252150 |
Thymoma |
|
Systemic lupus erythematosus, Demyelinating peripheral neuropathy, Rheumatoid arthritis, Abnormal... |
ORPHA:99867 |
Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased... |
OMIM:613011 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hypertonia, Ataxia, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remye... |
ORPHA:255210 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Ataxia, Delayed peripheral myelination, Progressive spastic paraplegia, Spasticity, Lower limb sp... |
ORPHA:464282 |
Cockayne Syndrome A |
|
Hip contracture, Abnormal peripheral myelination, Ataxia, Decreased nerve conduction velocity, Sp... |
OMIM:216400 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Decreased circulating antibody level, Hepatomegaly, Biliary ci... |
ORPHA:586 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Autoimmunity, Schwannoma, Vocal cord paralysis, Abnormal glossopharyng... |
ORPHA:221098 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Isometric tremor, Ataxia, Leukodystrophy, Tics, Spasticity, Hypsarrhythmia, Peripheral demyelinat... |
OMIM:619475 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... |
ORPHA:2442 |
D-Bifunctional Protein Deficiency |
|
Cerebral dysmyelination, Decreased muscle mass, Decreased nerve conduction velocity, Splenomegaly |
OMIM:261515 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Respiratory paralysis, Periodic hypokalemic paresis, Increased ... |
ORPHA:681 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Ataxia, Decreased nerve conduction velocity, Splenomegaly, Patch... |
OMIM:133540 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Opisthotonus, Babinski sign, Abnormal... |
OMIM:607483 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Splenomegaly |
ORPHA:585 |
Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... |
ORPHA:726 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Paraparesis, Leukodystrophy, Hepatosplenomegaly, Hemiparesis, T lymphocytopenia, Panhypogammaglob... |
ORPHA:79124 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Abnormal T cell morphology, Macronodular cirrhosis |
OMIM:215250 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Tremor, Foot joint contracture, Abnor... |
ORPHA:90321 |
Cockayne Syndrome |
|
Cerebral dysmyelination, Hypertonia, Ataxia, Demyelinating peripheral neuropathy, Decreased nerve... |
ORPHA:191 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgA level, Decreased... |
OMIM:614878 |
Machado-Joseph Disease Type 3 |
|
Clumsiness, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Degenera... |
ORPHA:276244 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Paragangliomas 2 |
|
Glomus jugular tumor, Glomus tympanicum paraganglioma, Vagal paraganglioma, Chemodectoma, Vocal c... |
OMIM:601650 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia |
OMIM:601457 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Thrombocytopenia, Increase... |
ORPHA:83313 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Rheumatoid factor positive, Bone marrow hypocellular... |
ORPHA:3261 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Decreased circulating total IgA, D... |
OMIM:300972 |
Immunodeficiency 104 |
|
T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
OMIM:617062 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Juvenile rheumatoid arthritis, ... |
ORPHA:275 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... |
OMIM:618986 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Splenomegaly, Absent specific antibod... |
OMIM:102700 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Peritoneal effusion, Decreased circulating IgG level, Lymphopeni... |
ORPHA:90362 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia |
OMIM:256810 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Clumsiness, Ankle clonus, Knee clonus, Hand muscle atrophy, Tongue fasciculations, Crania... |
OMIM:211530 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Ataxia, Neutropenia in presence of ant... |
OMIM:613179 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation, Distal amyotrophy, Progre... |
ORPHA:2821 |
Congenital Disorder Of Deglycosylation 1 |
|
Intrinsic hand muscle atrophy, Action tremor, Delayed myelination, Decreased sensory nerve conduc... |
OMIM:615273 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:614116 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... |
OMIM:618108 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Pseudobulbar paralysis, Respiratory paralysis, Rhabdomyolysis, Paralysis, ... |
ORPHA:449285 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... |
OMIM:614700 |
X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hemiparesis, Leg muscle stiffness, Progressive spastic paraparesis, Para... |
ORPHA:43 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, T lymphocytopenia |
OMIM:618806 |
Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Hyp... |
OMIM:617388 |
Acute Transverse Myelitis |
|
Paraparesis, Distal lower limb muscle weakness, Systemic lupus erythematosus, Abnormal autonomic ... |
ORPHA:139417 |
Choreoacanthocytosis |
|
Chorea, Slurred speech, Hypertonia, Resting tremor, Splenomegaly, Hyperkinetic movements, Parkins... |
ORPHA:2388 |
East Syndrome |
|
Ataxia, Action tremor, Peripheral hypomyelination, Peripheral axonal neuropathy, Lower limb muscl... |
ORPHA:199343 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
Laryngeal Abductor Paralysis |
|
Paralysis |
OMIM:308850 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular ca... |
ORPHA:2137 |
Mucopolysaccharidosis Type 2 |
|
Motor stereotypy, Flexion contracture of digit, Decreased nerve conduction velocity, Macroglossia... |
ORPHA:580 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:300755 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis, Myopathy |
OMIM:613345 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Ataxia, Intrinsic hand muscle atrophy, Babinski sign, Foot dorsiflexor weakness, Weakness of the ... |
OMIM:302900 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Spasticity, Motor neuron atrophy, Skeletal muscle atrophy |
ORPHA:803 |
Bilateral Perisylvian Polymicrogyria |
|
Facial diplegia, EEG with frontal focal spikes, Paraparesis, Pseudobulbar paralysis, EEG with par... |
ORPHA:98889 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
Cockayne Syndrome Type 3 |
|
Demyelinating peripheral neuropathy, Flexion contracture, Splenomegaly, Intention tremor, Periphe... |
ORPHA:90324 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:615577 |
Ataxia-Telangiectasia |
|
Ataxia, Decreased circulating IgA level, Progressive cerebellar ataxia, Lymphopenia, Decreased ci... |
OMIM:208900 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly |
OMIM:619164 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia |
ORPHA:217390 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Myasthenia Gravis |
|
Limb muscle weakness, Facial palsy, Autoimmunity |
OMIM:254200 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Complement deficiency, Increased circulating IgG4 level, Hy... |
ORPHA:449400 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, T lymphocytopenia, Panhy... |
OMIM:600802 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Paraparesis, Ataxia, Orthostatic hypotension, Parkinsonism, Peripheral axonal neuropathy, Lower l... |
ORPHA:2822 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, Ataxia, Spasticity |
OMIM:617854 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen... |
OMIM:600903 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Systemic lupus erythematosus, Lymphopenia, Juvenile rheumatoid arthritis, Rheumatoid arthritis, S... |
OMIM:607944 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... |
OMIM:612301 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgA level, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circu... |
OMIM:615934 |
Igg4-Related Submandibular Gland Disease |
|
Increased circulating antibody level, Abnormal pancreas morphology, Complement deficiency, Eosino... |
ORPHA:449432 |
Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
Igg4-Related Pachymeningitis |
|
Paraparesis, Eosinophilia, Lower limb muscle weakness, Increased circulating IgG4 level, Abnormal... |
ORPHA:449427 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Arnold-Chiari Malformation Type I |
|
Progressive cerebellar ataxia, Cranial nerve compression, Abnormality of the eleventh cranial ner... |
ORPHA:268882 |
Rift Valley Fever |
|
Paraparesis, Decerebrate rigidity, Hemiparesis, Increased circulating IgG level, Paralysis, Incre... |
ORPHA:319251 |
Friedreich Ataxia 2 |
|
Abnormality of peripheral nerve conduction, Ataxia, Babinski sign, Incoordination |
OMIM:601992 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis, Myopathy |
OMIM:170400 |
Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... |
ORPHA:74 |
Thymic Aplasia |
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Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... |
ORPHA:83471 |
Igg4-Related Thyroid Disease |
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Anti-thyroid peroxidase antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hash... |
ORPHA:64744 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
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Decreased circulating IgA level, Hepatomegaly, Splenomegaly, Hepatitis, Portal hypertension, Panc... |
OMIM:613385 |
Hyperkalemic Periodic Paralysis |
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Hypertonia, Flexion contracture, Skeletal muscle hypertrophy, Cerebral palsy, Skeletal muscle atr... |
ORPHA:682 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Dyskeratosis Congenita, Digenic |
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Anemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating t... |
OMIM:620040 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
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Chronic axonal neuropathy, Ataxia, Peripheral hypomyelination, Intention tremor, Dysdiadochokinesis |
OMIM:612780 |
Toxin-Mediated Infectious Botulism |
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Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Gm2-Gangliosidosis, Ab Variant |
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Hypertonia, Exaggerated startle response, Abnormal pyramidal sign, Chorea, Paralysis, Spastic tet... |
OMIM:272750 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Motor stereotypy, Hypertonia, Decreased lymphocyte proliferation in response to mitogen, Lymphope... |
ORPHA:508533 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, Ch... |
ORPHA:562639 |
Multiple Myeloma |
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Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Decreased circula... |
ORPHA:29073 |
Adrenoleukodystrophy |
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Paraparesis, Limb ataxia, Truncal ataxia, Lower limb muscle weakness, Spastic paraplegia, Incoord... |
OMIM:300100 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
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Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Mogs-Cdg |
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Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula... |
ORPHA:79330 |
Neurofibromatosis, Familial Spinal |
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Symmetric spinal nerve root neurofibromas, Paraparesis, Plexiform neurofibroma, Lower limb muscle... |
OMIM:162210 |
Immunodeficiency 17 |
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T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Chro... |
OMIM:615607 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Decreased number of small peripheral myelinated nerve fibers, Abnormal autonomic nervous system p... |
OMIM:256800 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Increased circulating IgA level, Abnormality of the extraocular muscles, Antinuclear antibody pos... |
ORPHA:79078 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, B lymphocyt... |
OMIM:619313 |
Wiskott-Aldrich Syndrome |
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Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:301000 |
Smith-Kingsmore Syndrome |
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Decreased circulating IgA level, Thrombocytopenia |
OMIM:616638 |
Autoimmune Polyendocrinopathy Type 4 |
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Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopen... |
ORPHA:227990 |
Simple Cryoglobulinemia |
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Viral hepatitis, Complement deficiency, Monoclonal elevation of circulating IgA, Monoclonal eleva... |
ORPHA:91139 |
Autoimmune Polyendocrinopathy Type 3 |
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Antiphospholipid antibody positivity, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopen... |
ORPHA:227982 |
Arachnoid Cyst |
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Paraparesis, Cranial nerve compression, Hemiparesis, Lower limb muscle weakness, Tetraparesis, Fa... |
ORPHA:2356 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
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Decreased circulating IgA level, Leukemia, Abnormality of the thymus |
OMIM:208910 |
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