Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation |
OMIM:608236 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Peripheral hypomy... |
OMIM:611228 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Clusters of axonal regeneration, Decreased number of p... |
OMIM:607734 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Froment sign, Decreased motor nerve conduction ... |
OMIM:162500 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Axonal regeneration, Decreased sensory nerve conduction velocity, Decreased motor nerve conductio... |
OMIM:608323 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Abnormal nerve conduction velocity, Decreased nerve conduction velocity, Peripheral demyelination... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... |
OMIM:608673 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... |
OMIM:605253 |
Null Syndrome |
|
Optic atrophy, CNS hypomyelination, Decreased nerve conduction velocity, Peripheral demyelination... |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... |
OMIM:601382 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph... |
OMIM:180800 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... |
ORPHA:206594 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy |
DECIPHER:59 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... |
OMIM:118200 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... |
OMIM:607706 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Onion bulb formation |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph... |
OMIM:118220 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... |
DECIPHER:29 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... |
OMIM:605588 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... |
OMIM:606482 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormal myelination, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Basal lamina onion bulb formation, Decreased motor nerve conduction velocity, Peripheral demyelin... |
OMIM:614895 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration... |
OMIM:620378 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... |
OMIM:145900 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Decreased moto... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decre... |
OMIM:609260 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Demyelinating sensory neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction ve... |
ORPHA:99939 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Facial diplegia, Onion bulb formation, Decreased numbe... |
OMIM:618184 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Peripheral axonal neuropathy... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity |
ORPHA:101082 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Peripheral demyelination, Decreased compound muscle action potential amplitude, Onion bulb formation |
OMIM:618279 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Basal lamina onion bulb formation, De... |
OMIM:601596 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:90103 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, Onio... |
OMIM:604563 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Acute dem... |
ORPHA:101081 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:600882 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral my... |
OMIM:607831 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity, Onion bulb formation, Myelin outfoldings |
OMIM:615284 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
EEG with generalized slow activity, Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
Krabbe Disease |
|
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination, ... |
OMIM:245200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:618912 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity |
OMIM:613287 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity |
OMIM:620111 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity |
OMIM:605726 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity |
OMIM:608895 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal periphera... |
ORPHA:457205 |
Leukodystrophy, Hypomyelinating, 18 |
|
Decreased nerve conduction velocity, Abnormal motor nerve conduction velocity, Demyelinating peri... |
OMIM:618404 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers |
OMIM:607677 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation |
OMIM:311070 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity |
ORPHA:640 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Axonal regeneration, Peripheral demyelination, Onion bulb formation |
OMIM:615185 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased distal sensory nerve action potential, Facial palsy, Decreased motor nerve conduction v... |
OMIM:607684 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers |
OMIM:607731 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity |
OMIM:606595 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:302801 |
Charcot-Marie-Tooth Disease Type 4A |
|
Decreased nerve conduction velocity, Chronic axonal neuropathy, Motor conduction block, Demyelina... |
ORPHA:99948 |
Parkinsonism With Polyneuropathy |
|
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... |
OMIM:619279 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma |
OMIM:613641 |
Hereditary Motor And Sensory Neuropathy V |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity |
OMIM:600361 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Leukodystrophy |
OMIM:614932 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Demyelinating peripheral... |
ORPHA:101077 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Decreased number of peri... |
OMIM:607250 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Axonal degeneration, Periphe... |
OMIM:604168 |
Early-Onset X-Linked Optic Atrophy |
|
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity |
ORPHA:98890 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Axonal loss, Segmental ... |
OMIM:601455 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ... |
OMIM:218000 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Axonal loss, Abnormal upper motor neuron morphology, Peripheral demyelination, EEG abnormality |
OMIM:221770 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Decreased compound muscle action potential amplitude |
OMIM:619112 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity |
OMIM:616687 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... |
OMIM:608340 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Decreased nerve conduction velocity |
OMIM:183050 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity |
OMIM:615575 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Axonal loss, Decreased motor nerve conduction velocity, Motor axonal neuropathy |
OMIM:620068 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... |
OMIM:616040 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:610532 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1368 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Peripheral demyelination |
OMIM:616684 |
Leukodystrophy, Hypomyelinating, 24 |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Leukodystrophy |
OMIM:619851 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Abnormal motor nerve conduction velocity |
OMIM:158580 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity |
ORPHA:352675 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... |
OMIM:617087 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity |
ORPHA:101078 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... |
OMIM:201300 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re... |
OMIM:614436 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Decreased motor nerve con... |
OMIM:162400 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Demy... |
ORPHA:99950 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Axonal degeneration, Dec... |
OMIM:615490 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:1188 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity |
OMIM:302802 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Optic atrophy, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity |
OMIM:612674 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity |
ORPHA:139536 |
Wild Type Abeta2M Amyloidosis |
|
Axonal loss, Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials |
ORPHA:85446 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Peripheral demyelination |
OMIM:609033 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Acute demyelinating polyneuropathy |
ORPHA:3115 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
ORPHA:497764 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity |
ORPHA:101075 |
Leukodystrophy, Hypomyelinating, 2 |
|
Optic atrophy, Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Leukodystrop... |
OMIM:608804 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation |
OMIM:615035 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination |
ORPHA:71211 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... |
OMIM:620542 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Peripheral hypomyelination |
OMIM:616287 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity, Delayed myelination |
ORPHA:319514 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Axonal degeneration, Decreased number of peripheral my... |
OMIM:302800 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... |
ORPHA:139578 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101001 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:2928 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Adult Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Peripheral demyelination, CNS demyeli... |
ORPHA:206448 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:250100 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Axonal loss, Peripheral demyelination |
OMIM:617672 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy |
ORPHA:99014 |
Trigeminal Neuralgia |
|
Peripheral demyelination, CNS demyelination, Cranial nerve compression |
ORPHA:221091 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity |
ORPHA:435387 |
Charcot-Marie-Tooth Disease And Deafness |
|
Axonal loss, Decreased motor nerve conduction velocity |
OMIM:118300 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination |
OMIM:200100 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Leukodystrophy, Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfuncti... |
OMIM:169500 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Decreased nerve conduction velocity, Peripheral demyelination, Short-segment aganglionic megacolo... |
OMIM:609136 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Decreased nerve conduction velocity, Peripheral axonal degeneration, Degeneration of anterior hor... |
OMIM:604320 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615703 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Peripheral demyelination, Leukodystrophy |
OMIM:614877 |
Ataxia-Pancytopenia Syndrome |
|
Decreased nerve conduction velocity |
OMIM:159550 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p... |
ORPHA:485421 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Optic atrophy, Decreased motor nerve conduction velocity, Spinal cord posterior columns myelin lo... |
ORPHA:1187 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity |
OMIM:603472 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor... |
OMIM:606070 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Axonal degen... |
OMIM:602433 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Abnormality of peripheral nerve conduction, Peripheral hypomyelination |
ORPHA:48431 |
Multifocal Motor Neuropathy |
|
Motor conduction block |
ORPHA:641 |
Charcot-Marie-Tooth Disease Type 1F |
|
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Decreased nerve ... |
ORPHA:101085 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Hypermyelinated retinal nerve fibers, Decreased number... |
OMIM:270550 |
Tangier Disease |
|
Peripheral axonal neuropathy, Peripheral demyelination, Facial diplegia |
OMIM:205400 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Abnorma... |
ORPHA:168563 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity |
OMIM:613724 |
Congenital Myopathy 10A, Severe Variant |
|
Abnormal motor nerve conduction velocity, Facial palsy |
OMIM:614399 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:1933 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude |
OMIM:619519 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity |
OMIM:619862 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity |
ORPHA:2926 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peripheral myelinat... |
OMIM:604484 |
Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Sensory axonal neuropathy, Decreased amplitude of sensory ac... |
OMIM:618733 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral... |
ORPHA:298 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Onion bulb formation |
OMIM:614455 |
Peho Syndrome |
|
Peripheral dysmyelination, Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia |
OMIM:260565 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity |
OMIM:270685 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... |
OMIM:619868 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity |
OMIM:256600 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Abnormality of visual evoked potentials, Leukodystrophy, Decreased nerve conductio... |
ORPHA:309256 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Decreased nerve conduction velocity |
OMIM:618356 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Abnormal seventh cranial physiology |
ORPHA:90117 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of s... |
OMIM:256840 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Abnormality of visual evoked potentials, Leukodystrophy, Decreased nerve conductio... |
ORPHA:309263 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials |
OMIM:616688 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Optic atrophy, Decreased motor nerve conduction velocity |
OMIM:615419 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Optic... |
OMIM:601152 |
Xeroderma Pigmentosum, Complementation Group B |
|
Abnormal CNS myelination, Optic atrophy, Decreased nerve conduction velocity |
OMIM:610651 |
Optic Atrophy 11 |
|
Optic atrophy, EEG with focal sharp waves, Facial diplegia, Delayed CNS myelination, Decreased se... |
OMIM:617302 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Decreased nerve conduction velocity, Facial diplegia |
ORPHA:329478 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Decreased compound muscle action potential amplitude |
OMIM:618323 |
Lethal Congenital Contracture Syndrome 5 |
|
EEG with burst suppression, Decreased nerve conduction velocity |
OMIM:615368 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity |
OMIM:619026 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:397744 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity |
OMIM:238970 |
Sialidosis Type 1 |
|
Decreased nerve conduction velocity, EEG abnormality |
ORPHA:812 |
Yuan-Harel-Lupski Syndrome |
|
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy |
OMIM:616652 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Optic neuropathy, Onion bulb formation |
ORPHA:320375 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Hypsarrhythmia, EEG abnormality, Decreased nerve conduction velocity |
ORPHA:565624 |
Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Optic atrophy, Abnormal flash visual evoked potentials, Abnor... |
ORPHA:98755 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude |
OMIM:606353 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... |
OMIM:301830 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
CNS hypomyelination, Decreased motor nerve conduction velocity, Facial diplegia |
OMIM:618186 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93476 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers |
ORPHA:477817 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
ORPHA:600 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia |
OMIM:620211 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Leukodystrophy, Decreased nerve conduction velocity, Orthostatic hypotension due t... |
ORPHA:309271 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Decreased compound muscle action potential amplitude |
OMIM:603511 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... |
ORPHA:320406 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
Multiple Sulfatase Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:272200 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination, EEG with multifocal slow activity |
ORPHA:289266 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
Friedreich Ataxia |
|
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action... |
OMIM:229300 |
Spinocerebellar Ataxia 10 |
|
Decreased nerve conduction velocity |
OMIM:603516 |
Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Abnormality of visual ... |
ORPHA:206436 |
Smith-Magenis Syndrome |
|
Abnormal nerve conduction velocity, EEG abnormality |
OMIM:182290 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity |
OMIM:616192 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro... |
OMIM:271245 |
Spinocerebellar Ataxia 1 |
|
Optic atrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory action p... |
OMIM:164400 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:614116 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia |
OMIM:612526 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
Autosomal Spastic Paraplegia Type 58 |
|
Peripheral demyelination |
ORPHA:397946 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Optic disc pallor, Decreased motor nerve conduction velocity, Optic neuropathy |
ORPHA:101076 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity |
OMIM:613640 |
Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy |
ORPHA:90658 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 11 |
|
Peripheral axonal neuropathy, Decreased compound muscle action potential amplitude, Motor axonal ... |
OMIM:620528 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Facial palsy, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral ... |
OMIM:256850 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... |
ORPHA:909 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:604360 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Abnormal motor nerve co... |
ORPHA:466768 |
Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Peripheral axonal neuropathy, Abnormal... |
ORPHA:35069 |
Peroxisome Biogenesis Disorder 4B |
|
Optic atrophy, Decreased nerve conduction velocity |
OMIM:614863 |
Spastic Ataxia 5, Autosomal Recessive |
|
Onion bulb formation |
OMIM:614487 |
Glutaric Acidemia I |
|
Symmetrical progressive peripheral demyelination, Delayed myelination |
OMIM:231670 |
Molybdenum Cofactor Deficiency, Type B |
|
Axonal loss, Peripheral demyelination |
OMIM:252160 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal sensory nerve conduction veloci... |
ORPHA:88628 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... |
OMIM:133540 |
Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... |
OMIM:216400 |
Molybdenum Cofactor Deficiency, Type A |
|
Axonal loss, Peripheral demyelination |
OMIM:252150 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93474 |
Warburg Micro Syndrome 4 |
|
Optic atrophy, Decreased motor nerve conduction velocity |
OMIM:615663 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Abnormal myelination, Hypsarrhythmia, EEG with multifocal slow activity |
ORPHA:442835 |
Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Decreased motor nerve conduction velocity, Facial paralysis, Decreased number of p... |
ORPHA:99949 |
Bickerstaff Brainstem Encephalitis |
|
Facial paralysis, Decreased motor nerve conduction velocity, Abnormality of the autonomic nervous... |
ORPHA:79138 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased sensory nerve conduction velocity, Facial palsy, Decreased motor nerve conduction veloc... |
ORPHA:456312 |
D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity, Cerebral dysmyelination |
OMIM:261515 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel... |
ORPHA:254930 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Axo... |
OMIM:208920 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Peripheral demyelination |
ORPHA:171629 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Peripheral demyelination, Severe demyelination of the white matter |
ORPHA:79282 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurofibroma, Leukodystrophy, Peripheral demyelination, Hypsarrhythmia, EEG abnormality, Multifoc... |
OMIM:619475 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Delayed peripheral myelination |
ORPHA:464282 |
Friedreich Ataxia |
|
Optic atrophy, Decreased motor nerve conduction velocity, Sensory axonal neuropathy |
ORPHA:95 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Abnormality of the autonomic nervous system, Decreased amplitude of sensory action potentials, Mo... |
ORPHA:36386 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... |
ORPHA:247598 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Paucity of anterior horn motor neurons, EEG with burst... |
ORPHA:79139 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity |
OMIM:214500 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Decreased compound muscle action potential amplitude |
OMIM:620080 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Decreased distal sensory nerve action potential, Myelin outfoldings |
ORPHA:99956 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Demyelinating peripheral neuropathy |
ORPHA:255210 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Chronic axonal neuropathy, Peripheral axonal neuropathy, Decreased motor nerve conduction velocity |
OMIM:606002 |
Cockayne Syndrome |
|
Optic atrophy, Decreased nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating p... |
ORPHA:191 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Abnormality of visual evoked potentials |
ORPHA:512 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
East Syndrome |
|
Peripheral axonal neuropathy, Peripheral hypomyelination |
ORPHA:199343 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Galactokinase Deficiency |
|
Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma |
ORPHA:79237 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Wilson Disease |
|
Decreased nerve conduction velocity, Mixed demyelinating and axonal polyneuropathy |
OMIM:277900 |
Ataxia, Sensory, 1, Autosomal Dominant |
|
Decreased amplitude of sensory action potentials |
OMIM:608984 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... |
OMIM:256800 |
Chédiak-Higashi Syndrome |
|
Decreased nerve conduction velocity |
ORPHA:167 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
Congenital Disorder Of Deglycosylation 1 |
|
Decreased sensory nerve conduction velocity, Delayed CNS myelination, Delayed myelination |
OMIM:615273 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Decreased HD... |
OMIM:278000 |
Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Papilledema, Decreased nerve conduction velocity |
ORPHA:580 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity |
ORPHA:93473 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
Cockayne Syndrome Type 1 |
|
Optic atrophy, Absent brainstem auditory responses, Abnormality of peripheral nerve conduction |
ORPHA:90321 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Peripheral demyelination, CNS demyelination |
OMIM:220111 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... |
OMIM:210250 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity |
ORPHA:2912 |
Cockayne Syndrome Type 3 |
|
Abnormality of peripheral nerve conduction, Peripheral axonal neuropathy, Demyelinating periphera... |
ORPHA:90324 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Chronic axonal neuropathy, Peripheral hypomyelination |
OMIM:612780 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Abnormal myelination |
ORPHA:280210 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension |
OMIM:223900 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Bohring-Opitz Syndrome |
|
Delayed peripheral myelination |
OMIM:605039 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79240 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia |
OMIM:620454 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Decreased HDL cholesterol concentration, Increased ... |
ORPHA:470 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:264580 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:256810 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:285 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic atrophy, EEG abnormality, Axonal loss, Optic disc pallor, Abnormal myelination, Delayed mye... |
ORPHA:404454 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Choreoacanthocytosis |
|
Peripheral axonal neuropathy, Decreased amplitude of sensory action potentials, Abnormal autonomi... |
ORPHA:2388 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... |
ORPHA:186 |
Prader-Willi Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:176270 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Delayed peripheral myelination |
ORPHA:364577 |
Gaisböck Syndrome |
|
Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin... |
ORPHA:90041 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
Lysosomal Acid Lipase Deficiency |
|
Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Steatorrhea, Hyperkalemia |
ORPHA:275761 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Abnormal CNS myelination, Abnormal myelination, Hypsarrhythmia |
OMIM:620371 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Monosomy 18Q |
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Abnormal myelination |
ORPHA:1600 |
Immunodeficiency 47 |
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Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
Friedreich Ataxia 2 |
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Abnormality of peripheral nerve conduction |
OMIM:601992 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Abnormal myelination |
ORPHA:309854 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Orthostatic hypotension due to autonomic dysfunction, Abnormality of the autonomic nervous system... |
ORPHA:642 |
Alagille Syndrome 1 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Lowe Oculocerebrorenal Syndrome |
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Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... |
OMIM:309000 |
Steinert Myotonic Dystrophy |
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Hypercholesterolemia |
ORPHA:273 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Degcags Syndrome |
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Abnormal myelination |
OMIM:619488 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Orofaciodigital Syndrome Type 14 |
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Abnormal myelination |
ORPHA:434179 |