Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Peripheral demyelination, Polyneuritis |
OMIM:162600 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Symmetrical progressive periphe... |
ORPHA:208981 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination |
DECIPHER:59 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601098 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
Null Syndrome |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Optic atrophy, Abnormal... |
ORPHA:280234 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, From... |
OMIM:162500 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Peripheral demyelination, CNS demyelination |
OMIM:165200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Demyelinating motor neuropathy, Decr... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation |
OMIM:618279 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... |
OMIM:607706 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... |
OMIM:608340 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental peripheral demyelination/... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... |
OMIM:605588 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:610100 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:609311 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Demyelinating peripheral neuropathy, Decreased motor nerve conduction vel... |
ORPHA:99953 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... |
DECIPHER:29 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Decreased nerve conduction... |
OMIM:252320 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... |
OMIM:604563 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Optic atrophy |
OMIM:311070 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers, Decreased moto... |
OMIM:600882 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, De... |
OMIM:618184 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... |
OMIM:608323 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity |
OMIM:612577 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Peripheral demyelination, Axonal loss |
OMIM:616684 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Peripheral demyelination |
OMIM:607736 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
EEG abnormality, Gliosis, Abnormal upper motor neuron morphology, Peripheral demyelination, Axona... |
OMIM:221770 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination |
ORPHA:101082 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Decreased sensory... |
ORPHA:101081 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
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-Deafness-Intellectual Disability Syndrome |
|
Abnormality of peripheral nerve conduction, Decreased number of large peripheral myelinated nerve... |
ORPHA:90103 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Gliosis, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellu... |
OMIM:220111 |
Krabbe Disease |
|
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, CNS demyelination, Periphera... |
OMIM:245200 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Decreased compound muscle action potential amplitude |
OMIM:619112 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Peripher... |
ORPHA:101097 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Decreased number of peripheral myelinated nerve fibers, Glio... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude |
OMIM:613641 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Decreased nerve conduction velocity |
OMIM:615284 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, EEG with generalized slow activity |
ORPHA:2386 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity |
OMIM:618912 |
Developmental And Epileptic Encephalopathy 54 |
|
EEG abnormality, Delayed myelination |
OMIM:617391 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocity, Perip... |
OMIM:604168 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination |
OMIM:258650 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Optic atrophy, Onion bulb formation, Peripheral axonal neuropathy |
OMIM:615035 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased numb... |
ORPHA:98856 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
ORPHA:497764 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination |
ORPHA:71211 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity |
ORPHA:640 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Demyelinating peripheral neuropathy, Decreased nerve co... |
OMIM:618404 |
Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination |
OMIM:200100 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Gliosis, Autonomic erectile dysfunction, Orthostatic hypotension due to autonomic dysfunction, Le... |
OMIM:169500 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... |
ORPHA:457205 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Parkinsonism With Polyneuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... |
OMIM:619279 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Peripheral demyelination, Axonal loss |
OMIM:617672 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:302801 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity |
ORPHA:139536 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity |
ORPHA:101075 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity |
OMIM:608895 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Decreased motor nerve conduction velocity, CNS hypomyelination, Cerebral hypomyelination, Facial ... |
OMIM:601170 |
Leukodystrophy, Hypomyelinating, 24 |
|
Leukodystrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:619851 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Demyelinating peripheral neuropathy, Peripheral axonal... |
ORPHA:101077 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Decreased nerve conduction velocity |
OMIM:614932 |
Galloway-Mowat Syndrome 5 |
|
Peripheral demyelination |
OMIM:617731 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:600361 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101001 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity |
ORPHA:98890 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic transaminase, Fa... |
OMIM:232700 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Hepatomegaly, Microvesicular hepatic steatosis, Acute hepatic failure, Cirrhos... |
OMIM:256810 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity |
OMIM:183050 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity |
OMIM:615575 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination |
OMIM:609033 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1368 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Axonal loss |
OMIM:614455 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Demy... |
ORPHA:99950 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... |
OMIM:162400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity, Decr... |
OMIM:201300 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Gliosis, Decreased nerve conduction velocity, Orthostatic hypotension, Degeneration of anterior h... |
OMIM:118301 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy |
OMIM:618400 |
Tangier Disease |
|
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination |
OMIM:205400 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity |
ORPHA:352675 |
Trigeminal Neuralgia |
|
Cranial nerve compression, Peripheral demyelination, CNS demyelination |
ORPHA:221091 |
Leukodystrophy, Hypomyelinating, 5 |
|
Leukodystrophy, Decreased motor nerve conduction velocity, CNS hypomyelination, Onion bulb formation |
OMIM:610532 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Abnormal nerve conduction velocity |
ORPHA:99014 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity |
ORPHA:101078 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... |
OMIM:617156 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Peripheral axonal de... |
OMIM:614436 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity |
OMIM:606595 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Orthostatic hypotension, Decreased number of peripheral myelinated nerve fibers, Peripheral axona... |
OMIM:608720 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... |
OMIM:602433 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1188 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude |
OMIM:619519 |
Leukodystrophy, Hypomyelinating, 2 |
|
Demyelinating motor neuropathy, Leukodystrophy, Decreased motor nerve conduction velocity, Cerebr... |
OMIM:608804 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Axonal degeneration, Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral ... |
OMIM:302800 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials, Peripheral demyelination, CNS de... |
ORPHA:206448 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy |
ORPHA:3115 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:250100 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity |
OMIM:302802 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity |
OMIM:619862 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Decreased sensory nerve conduction velocity, Onion bulb formation, Decreased mot... |
OMIM:218000 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Abnormal motor nerve conduction velocity, Facial palsy |
OMIM:614399 |
Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:605726 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Optic atrophy, Abnormal myelination |
OMIM:618324 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Cerebral dysmyelination, Dysmyelinating leukodystrophy, Abse... |
OMIM:609136 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity |
ORPHA:2926 |
Wild Type Abeta2M Amyloidosis |
|
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Axonal loss |
ORPHA:85446 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... |
ORPHA:79301 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity |
OMIM:612674 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude |
ORPHA:90117 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:613812 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... |
ORPHA:139578 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:2928 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transami... |
OMIM:214950 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Abnormality of perip... |
ORPHA:168563 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Demyelinating peripheral neuropathy, Basal lamina onion bulb formation |
ORPHA:2821 |
Glutaric Acidemia I |
|
Failure to thrive, Delayed myelination, Hepatomegaly, Hypoglycemia, Symmetrical progressive perip... |
OMIM:231670 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity |
OMIM:118300 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Delayed myelination, Decreased nerve conduction velocity |
ORPHA:319514 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:614116 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Aldehyde oxidase deficiency, Gliosis, Molybdenum cofactor deficiency, Sulfite oxidase deficiency,... |
OMIM:252150 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased sensory nerve conduction ... |
OMIM:270550 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Motor axonal neuropathy |
ORPHA:48431 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity |
ORPHA:435387 |
Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Abnormality of somatosensory evoked potentials, Abnormal nerve conduction velocity |
ORPHA:98755 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Gliosis, Peripheral demyelination, Axonal loss |
OMIM:252160 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... |
ORPHA:298 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:603472 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Facial palsy |
OMIM:607684 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Decreased nerve conduction velocity |
OMIM:618356 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Peripheral axonal degen... |
OMIM:604320 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
Ataxia-Pancytopenia Syndrome |
|
Decreased nerve conduction velocity |
OMIM:159550 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93476 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, ... |
OMIM:619484 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Elevated hepatic transaminase, CNS hypomyelination, Peripheral axonal neuropathy |
OMIM:619688 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:101085 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:235555 |
Multiple Sulfatase Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:272200 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Type I diabete... |
OMIM:618549 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Severe demyelination of the white matter, EEG with focal epileptiform discharges, Decreased motor... |
ORPHA:1187 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Abnormal CNS myelination, Decreased nerve conduct... |
ORPHA:206443 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Gliosis, Decreased nerve conduction velocity |
OMIM:256600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Decreased compound muscle action potential amplitude |
OMIM:603511 |
Multifocal Motor Neuropathy |
|
Motor conduction block |
ORPHA:641 |
Yuan-Harel-Lupski Syndrome |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity |
OMIM:616652 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Decreased number of peripheral myelinated nerve fibers, Periphe... |
ORPHA:320406 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity |
OMIM:270685 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar gliosis, Abnormal autonomic nervous system physiology, Peripheral axonal neuropathy, O... |
ORPHA:35069 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity |
OMIM:243000 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... |
OMIM:214900 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Motor axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Sensory axonal n... |
OMIM:256850 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity |
OMIM:616688 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:604360 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... |
OMIM:600803 |
Autosomal Spastic Paraplegia Type 58 |
|
Peripheral demyelination |
ORPHA:397946 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Jaundice, Intrahepatic cholestasis, Abnormal liver function tests ... |
OMIM:147480 |
Peho Syndrome |
|
Optic atrophy, Peripheral dysmyelination, Hypsarrhythmia |
OMIM:260565 |
Neuromuscular Oculoauditory Syndrome |
|
Sensory axonal neuropathy, Decreased nerve conduction velocity, Peripheral hypomyelination, Decre... |
OMIM:618733 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... |
OMIM:616278 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, ... |
OMIM:607765 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Optic atrophy, Decreased motor nerve conduction velocity |
OMIM:615419 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:619026 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity |
ORPHA:1933 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Peri... |
OMIM:256840 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase ... |
ORPHA:79303 |
Xeroderma Pigmentosum, Complementation Group B |
|
Optic atrophy, Abnormal CNS myelination, Decreased nerve conduction velocity |
OMIM:610651 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Severe demyelination of the white matter, Optic atrophy, Hypoglycemia, Jaundic... |
ORPHA:79282 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic atrophy, Onion bulb formation, Decreased sensory nerve conduction velocity, Optic neuropathy |
ORPHA:320375 |
Isolated Biliary Atresia |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Severe failure to... |
ORPHA:30391 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Hypsarrhy... |
ORPHA:485421 |
Sialidosis Type 1 |
|
EEG abnormality, Decreased nerve conduction velocity |
ORPHA:812 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Sensory axonal neuropathy, Abnormal motor nerve conduction veloc... |
ORPHA:466768 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Failure to thrive, Demyelinating peripheral neuropathy, Hepatomegaly, Hepatic failure, Segmental ... |
ORPHA:255210 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity |
ORPHA:309263 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal neuron branching, Decreased liver function, Failure to thrive, Hepatomegaly, Hepatic fai... |
ORPHA:367 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormality of peripheral nerves, Abnormal sensory nerve conduction velocity, Axonal degeneration |
ORPHA:88628 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased motor nerve conduction velocity, Axonal degeneration/... |
OMIM:601152 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93474 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... |
OMIM:208920 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:397744 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
ORPHA:567983 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity |
ORPHA:600 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Decreased nerve conduction velocity |
ORPHA:329478 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Delayed peripheral myelination |
ORPHA:464282 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity |
OMIM:615368 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria, Elevated hepatic... |
ORPHA:2089 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Decreased nerve conduction velocity |
ORPHA:477817 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, EEG abnormality, Decreased nerve conduction velocity, Hypsarrhythmia |
ORPHA:565624 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity |
OMIM:238970 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Peripheral demyelination |
ORPHA:171629 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination, EEG with multifocal slow activity |
ORPHA:289266 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Optic atrophy, Decreased number of peripheral myelinated nerve fibers, Periphera... |
ORPHA:254930 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Failure to thrive, Decreased body weight, Delayed myelination, Leukodystrophy, Overweight, Neurof... |
OMIM:619475 |
Spinocerebellar Ataxia 1 |
|
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Optic atr... |
OMIM:164400 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypoglycemia, Elevated... |
OMIM:613027 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Leukodystrophy, Orthostatic hypotension due to autonomic dysfunction, Decreased ne... |
ORPHA:309271 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Decreased amplitude of sensory action potentials, Abnormality of the autonomic nervous system, Mo... |
ORPHA:36386 |
Spinocerebellar Ataxia 10 |
|
Decreased nerve conduction velocity |
OMIM:603516 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Gliosis, Abnormal motor evoked potentials, Decreased nerve conduction velocity,... |
ORPHA:909 |
East Syndrome |
|
Peripheral axonal neuropathy, Peripheral hypomyelination |
ORPHA:199343 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity |
OMIM:613640 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity |
OMIM:616192 |
Infantile Krabbe Disease |
|
Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials |
ORPHA:206436 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Abnormal myelination, Gliosis, Cerebral hypomyelination |
ORPHA:280210 |
Friedreich Ataxia |
|
Optic atrophy, Decreased amplitude of sensory action potentials, Decreased sensory nerve conducti... |
OMIM:229300 |
D-Bifunctional Protein Deficiency |
|
Cerebral dysmyelination, Gliosis, Decreased nerve conduction velocity |
OMIM:261515 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Ax... |
OMIM:614575 |
Cockayne Syndrome B |
|
Failure to thrive, Abnormal peripheral myelination, Hepatomegaly, Decreased nerve conduction velo... |
OMIM:133540 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Optic neuropathy, Optic disc pallor, Decreased motor nerve conduction velocity |
ORPHA:101076 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Abnormal myelination, EEG with multifocal slow activity, Hypsarrhythmia |
ORPHA:442835 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Glycosuria, Hypoglycemia, ... |
OMIM:616026 |
Charcot-Marie-Tooth Disease Type 1E |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity |
ORPHA:90658 |
Charcot-Marie-Tooth Disease Type 4C |
|
Demyelinating peripheral neuropathy, Decreased motor nerve conduction velocity, Facial paralysis,... |
ORPHA:99949 |
Warburg Micro Syndrome 4 |
|
Optic atrophy, Decreased motor nerve conduction velocity |
OMIM:615663 |
Cockayne Syndrome A |
|
Abnormal peripheral myelination, Decreased nerve conduction velocity, Patchy demyelination of sub... |
OMIM:216400 |
Bickerstaff Brainstem Encephalitis |
|
EEG abnormality, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous ... |
ORPHA:79138 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93473 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers, Abnormal autonomic nervous system p... |
OMIM:256800 |
Cockayne Syndrome Type 3 |
|
Demyelinating peripheral neuropathy, Peripheral axonal neuropathy, Astrocytosis, Optic disc pallo... |
ORPHA:90324 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Absent brainstem auditory responses |
ORPHA:90321 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, EEG abnormality, Decreased sensory nerve conduction ve... |
ORPHA:456312 |
Peroxisome Biogenesis Disorder 4B |
|
Optic atrophy, Decreased nerve conduction velocity |
OMIM:614863 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Chronic axonal neuropathy, Peripheral hypomyelination |
OMIM:612780 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings |
ORPHA:99956 |
Cockayne Syndrome |
|
Cerebral dysmyelination, Gliosis, Demyelinating peripheral neuropathy, Decreased nerve conduction... |
ORPHA:191 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity |
ORPHA:2912 |
Friedreich Ataxia |
|
Optic atrophy, Decreased motor nerve conduction velocity, Sensory axonal neuropathy |
ORPHA:95 |
Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity |
OMIM:214500 |
Japanese Encephalitis |
|
EEG abnormality, Paucity of anterior horn motor neurons, Decreased motor nerve conduction velocit... |
ORPHA:79139 |
Wilson Disease |
|
Mixed demyelinating and axonal polyneuropathy, Decreased nerve conduction velocity |
OMIM:277900 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Decreased distal sensory nerve action potential |
OMIM:606071 |
Bohring-Opitz Syndrome |
|
Failure to thrive, Delayed peripheral myelination, Hyperechogenic pancreas |
OMIM:605039 |
Congenital Disorder Of Deglycosylation 1 |
|
Gliosis, Delayed myelination, Decreased sensory nerve conduction velocity, Delayed CNS myelination |
OMIM:615273 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:606002 |
Chédiak-Higashi Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:167 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers |
OMIM:223900 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity |
ORPHA:512 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Choreoacanthocytosis |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Periph... |
ORPHA:2388 |
Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Papilledema, Decreased nerve conduction velocity |
ORPHA:580 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Delayed peripheral myelination |
ORPHA:364577 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Gliosis, Delayed myelination, EEG abnormality, Optic atrophy, Optic disc pallor, Abnormal myelina... |
ORPHA:404454 |
Friedreich Ataxia 2 |
|
Abnormality of peripheral nerve conduction |
OMIM:601992 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination, Astrocytosis |
ORPHA:309854 |
Monosomy 18Q |
|
Abnormal myelination |
ORPHA:1600 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Abnormality of peripheral nerve conduction |
OMIM:302900 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormality of peripheral nerve conduction,... |
ORPHA:642 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:285 |
Friedreich Ataxia And Congenital Glaucoma |
|
Decreased amplitude of sensory action potentials |
OMIM:229310 |
Degcags Syndrome |
|
Abnormal myelination |
OMIM:619488 |
Orofaciodigital Syndrome Type 14 |
|
Abnormal myelination |
ORPHA:434179 |
X-Linked Progressive Cerebellar Ataxia |
|
Axonal loss |
ORPHA:1175 |