Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... |
OMIM:601098 |
Distal Hereditary Motor Neuropathy Type 5 |
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Impaired vibratory sensation, First dorsal interossei muscle atrophy, Thenar muscle weakness, Dis... |
ORPHA:139536 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Hand muscle weakness, Decreased sensory nerve conduction velocity, Decreased motor nerve conducti... |
OMIM:608323 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Weakness of facial musculature, Foot dorsiflexor weakness, Wrist flexion contracture, Weakness of... |
OMIM:619519 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
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Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy |
OMIM:605589 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
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Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
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Decreased motor nerve conduction velocity, Distal sensory impairment, Foot dorsiflexor weakness, ... |
OMIM:302801 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
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Flexion contracture, Impaired distal tactile sensation, Proximal muscle weakness in lower limbs, ... |
OMIM:607706 |
Chronic Inflammatory Demyelinating Polyneuropathy |
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Spontaneous pain sensation, Hand muscle weakness, Motor conduction block, Sensory ataxia, Decreas... |
ORPHA:2932 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
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Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Decreased motor nerve cond... |
OMIM:618912 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Decreased number of large periphe... |
ORPHA:90103 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
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Compound muscle action potential amplitude facilitation, Foot dorsiflexor weakness, Distal amyotr... |
OMIM:616040 |
Charcot-Marie-Tooth Disease, Type 4J |
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Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Impaired vibratory sensation, Decreased motor nerve conduction velocity, Hypertrophic nerve chang... |
DECIPHER:29 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
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Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Foot dorsiflexor weaknes... |
OMIM:613287 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
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Vestibular schwannoma, Decreased compound muscle action potential amplitude, Distal sensory impai... |
OMIM:613641 |
Charcot-Marie-Tooth Disease, Type 4H |
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Peripheral hypomyelination, Hypoesthesia, Small thenar eminence, Decreased motor nerve conduction... |
OMIM:609311 |
Amyotrophic Lateral Sclerosis 11 |
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Somatic sensory dysfunction, Skeletal muscle atrophy, Decreased nerve conduction velocity |
OMIM:612577 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Di... |
OMIM:610100 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
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Hand muscle weakness, Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased m... |
OMIM:162500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
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Peripheral axonal neuropathy, Foot dorsiflexor weakness, Distal amyotrophy, Elevated hepatic tran... |
OMIM:618400 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
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Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
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Distal lower limb muscle weakness, Decreased compound muscle action potential amplitude, Distal l... |
OMIM:619112 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
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Thenar muscle atrophy, Decreased nerve conduction velocity, Impaired vibration sensation in the l... |
ORPHA:352675 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Ataxia, Distal upper limb amyotrophy, Distal lower limb amyotrophy, Impaired pain sensation, Abno... |
ORPHA:101075 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Foot ... |
OMIM:605588 |
Autosomal Dominant Spastic Paraplegia Type 17 |
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Hand muscle weakness, Hand muscle atrophy, Abnormality of the foot musculature, Foot dorsiflexor ... |
ORPHA:100998 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Hand muscl... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
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Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot dorsiflexor weakness,... |
OMIM:607678 |
Charcot-Marie-Tooth Disease Type 1A |
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Spontaneous pain sensation, Sensory ataxia, Decreased sensory nerve conduction velocity, Calf mus... |
ORPHA:101081 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
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Decreased nerve conduction velocity, Hand muscle atrophy, Distal sensory impairment, Skeletal mus... |
ORPHA:99944 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
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Decreased motor nerve conduction velocity, Distal amyotrophy |
OMIM:614751 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
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Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Dist... |
OMIM:605253 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
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Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower limb muscle weakness, Spi... |
OMIM:615575 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Foot dorsiflexor weaknes... |
OMIM:600361 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... |
ORPHA:206594 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Muscular dystrophy, Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculatur... |
ORPHA:2926 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
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Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity |
OMIM:183050 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Distal sensory impairment, Foot dorsiflexor weakness, Distal... |
OMIM:302802 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Flexion contracture, Onio... |
OMIM:609260 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Sensory ataxia, Onion bulb formation, Decreased motor nerve conduction velocity,... |
OMIM:618184 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Foot dorsiflexor weakness, ... |
OMIM:600882 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Hand muscle weakness, Motor conduction block, Decreased number of larg... |
ORPHA:99948 |
Roussy-Levy Hereditary Areflexic Dystasia |
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Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Distal sensory impairment, Dis... |
OMIM:608895 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Peripheral axonal neuropathy, S... |
ORPHA:101082 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Decreased nerve conduction velocity, Abolished vibration sense, Impaired vibration sensation in t... |
ORPHA:435387 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, First... |
OMIM:270685 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity, Impaired pain sensation |
ORPHA:101078 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of the Achilles tendon, Di... |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, F... |
OMIM:614436 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Abnormal motor evoked potentials, Decreased nerve conduction velocity, EMG: myopathic abnormaliti... |
ORPHA:99939 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment, ... |
OMIM:606595 |
Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Impaired vibratory sensation, Decreased motor nerve conduction velocity, ... |
ORPHA:99953 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Hand muscle weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, Dec... |
ORPHA:101077 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Foot dorsiflexor weakness, ... |
OMIM:118300 |
Roussy-Lévy Syndrome |
|
Intrinsic hand muscle atrophy, Limb ataxia, Impaired vibratory sensation, Decreased motor nerve c... |
ORPHA:3115 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Decreased motor nerve conduction velocity |
ORPHA:640 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Distal amyotrophy, Decrease... |
OMIM:607831 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Foot dorsifl... |
OMIM:118200 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Skeletal muscle hypertrophy, Optic atrophy, Impaired pain sensation, Abnormal nerve condu... |
ORPHA:99014 |
Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Decreased nerve conduction velocity |
ORPHA:868 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity |
ORPHA:1188 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Limb ataxia, Somatic sensory dysfunction, Gait ataxia, Hypomimic face, Abnormal nerv... |
OMIM:619862 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Nemaline bodies, Flexion contracture, Decreased motor nerve conduction velocity, Foot dorsiflexor... |
OMIM:607684 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Distal upper lim... |
ORPHA:65684 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Intrinsic hand muscle atrophy, Ataxia, Decreased motor nerve conduction velocity, Foot dorsiflexo... |
OMIM:616688 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity, Spinal muscular atrophy, Foot dorsiflexor weakness, Di... |
OMIM:605726 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Myelin tomacula, Decreased sensory nerve conduction velocity, Sensory ataxia, Segmental periphera... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Limb muscle weakness, Decreased nerve conduction velocity, Distal sensory i... |
OMIM:615284 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Dysdiadochokinesis, Optic atrophy, Optic disc pallor, Choreo... |
ORPHA:98890 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Lower l... |
ORPHA:90117 |
Charcot-Marie-Tooth Disease Type 1F |
|
Flexion contracture of finger, Limb ataxia, Proximal muscle weakness in lower limbs, Weakness of ... |
ORPHA:101085 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... |
OMIM:162400 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormality of peripheral nerve condu... |
ORPHA:280234 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Motor axonal neuropathy, Abnormal peripheral action potential amplitude, EEG abnormality, Decreas... |
ORPHA:457205 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Lower limb amyotrophy, Distal sensory impairment, Decr... |
ORPHA:99950 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:604563 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axonal degenera... |
OMIM:618138 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Abnormal autonomic nervous system physiology, Painless fractures due to injur... |
OMIM:243000 |
Wild Type Abeta2M Amyloidosis |
|
Abnormality of the thenar eminence, Decreased nerve conduction velocity, Macroglossia, Abnormal t... |
ORPHA:85446 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Decrease... |
OMIM:603511 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Dista... |
OMIM:613640 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1368 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Dysmetria, Decreased nerve conduction velocity, Flexion... |
OMIM:618404 |
Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Chorea, Optic atrophy, Abnormality ... |
ORPHA:98755 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Sensory ... |
ORPHA:139578 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Skeletal muscle atrophy, Decreased nerve conduction velocity |
OMIM:614932 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Dysmetria, Distal sensory impairment, Distal amyotro... |
OMIM:612674 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormality of peripheral nerve conduction, Lower limb muscle weakness |
ORPHA:101001 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... |
OMIM:252320 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Motor axonal neuropathy, Ataxia, Dysmetria, Camptodactyly of finger, Acute rhabdomyolysis, Parest... |
ORPHA:48431 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Dysmetria, Impaired vibration sensation in the lower... |
OMIM:159550 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Hand muscle weakness, Dysmetria, Axonal degeneration, Onion bulb formation, Decreased motor nerve... |
OMIM:302800 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... |
OMIM:614399 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Decreased sensory nerve con... |
OMIM:270550 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Optic neuropathy, Hand muscle weakness, Peroneal muscle weakness, Intrinsic hand muscle atrophy, ... |
ORPHA:101076 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Ataxia, Flexion contracture of finger, Sensory ataxia, Joint contracture of the hand, Decreased s... |
OMIM:609033 |
Spinocerebellar Ataxia 1 |
|
Progressive cerebellar ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Dysmetri... |
OMIM:164400 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Peroneal muscle weakness, Decreased nerve conduction velocity, Trophic limb changes, Orthostatic ... |
OMIM:118301 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:249900 |
Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Decreased nerve conduction velocity, Rimmed vacuoles, Increased variability... |
OMIM:606070 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Facial diplegia, Intrinsic hand muscle atrophy, Decreased nerve conduction velocity, EMG: myopath... |
ORPHA:329478 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
EMG: myopathic abnormalities, Decreased motor nerve conduction velocity, Congenital muscular dyst... |
OMIM:601170 |
Parkinsonism With Polyneuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... |
OMIM:619279 |
Multifocal Motor Neuropathy |
|
Motor conduction block, Limb muscle weakness, Weakness of long finger extensor muscles |
ORPHA:641 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, EMG: myopathic abnormalities, Increased variability in muscl... |
ORPHA:397744 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Flexion contracture of finger, Axonal degeneration, Impaired vibration sensation in the l... |
ORPHA:88628 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Decreased nerve conduction velocity, Axonal degeneration, Diaphragmatic eventration, Camptodactyl... |
OMIM:604320 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Positive Romberg sign, Distal sensory impairment, Dist... |
OMIM:601152 |
Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Ataxia |
ORPHA:66631 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Abnormality of the autonomic nervous system, Trophic changes related to pain,... |
ORPHA:36386 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairmen... |
OMIM:256840 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Dysdiadochokinesis, Ataxia, Decreased nerve conduction velocity, Dysmetria |
OMIM:618356 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Abnormality of the extraocular muscles, Decreased ... |
ORPHA:600 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Decreased nerve conduction velocity, Type 2 muscle fiber atrophy, Type 1 muscle ... |
ORPHA:319514 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Decreased sensory nerve c... |
OMIM:603472 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Skeletal muscle atrophy, Decreased nerve conduction velocity |
ORPHA:1933 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Axonal degeneration, Decreased motor nerve conduction velocit... |
OMIM:604168 |
Charcot-Marie-Tooth Disease Type 1E |
|
Peroneal muscle weakness, Hand muscle weakness, Acroparesthesia, Decreased nerve conduction veloc... |
ORPHA:90658 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Flexion contracture of finger, Proximal muscle weakness in lower... |
ORPHA:466768 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Hepatomegaly, Muscular dystrophy, Truncal ataxia, Chorea, Elevated hepatic ... |
ORPHA:369840 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Ataxia, Acroparesthesia, Decreased nerve conducti... |
ORPHA:206443 |
Friedreich Ataxia |
|
Ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Impaired vibratory sensation, O... |
OMIM:229300 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased number of large peripheral myelinated nerve fibers, Abnormality of the extraocular musc... |
ORPHA:298 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Decreased sensory nerve conduction velocity, Onion bulb formation, Foot dorsifl... |
ORPHA:320375 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Flexion contracture |
OMIM:619851 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Hepatomegaly, Decreased nerve conduction velocity, Impaired vibratory s... |
OMIM:238970 |
Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Decreased nerve conduction velocity, Dysmetria, Limb ataxia, Dysdi... |
OMIM:603516 |
Krabbe Disease |
|
EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Reduced galactocerebrosidase... |
OMIM:245200 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Axonal degeneration/regeneration, Decreased sensory nerve conduction velocity, F... |
OMIM:218000 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Decreased nerve conduction velocity |
ORPHA:2928 |
Metachromatic Leukodystrophy |
|
Ataxia, Gallbladder dysfunction, Decreased nerve conduction velocity, Chorea, Cholecystitis, Opti... |
OMIM:250100 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Elevated hepatic transaminase, L... |
OMIM:612937 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Axonal degeneration, Degeneration of anterior horn cells, Peripheral axonal degeneration, Distal ... |
OMIM:602433 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Elev... |
ORPHA:263494 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Distal sensory impairment, Foot dorsiflexor weakness |
OMIM:616039 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Optic atrophy, Chor... |
OMIM:608804 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Painless fractures due to injury, Decreas... |
OMIM:201300 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Ataxia, Limb ataxia, Abnormal autonomic nervous system physiology, Positive Romberg sign, Decreas... |
OMIM:614575 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Elevated hepatic transaminase, Ataxia, Peripheral axonal neuropathy |
OMIM:619688 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Flexion contracture, Abnormal autonomic nervous system physiology, Peripheral axonal neur... |
ORPHA:35069 |
Lethal Congenital Contracture Syndrome 5 |
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Centrally nucleated skeletal muscle fibers, Congenital contracture, Decreased nerve conduction ve... |
OMIM:615368 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Chronic axonal neuropathy, Limb ataxia, Decreased motor nerve conduction velocity, Peripheral axo... |
OMIM:606002 |
Autosomal Recessive Spastic Paraplegia Type 25 |
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Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Sialidosis Type 1 |
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Ataxia, EEG abnormality, Skeletal muscle atrophy, Decreased nerve conduction velocity |
ORPHA:812 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
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Hand muscle atrophy, Foot dorsiflexor weakness, Distal amyotrophy, Shoulder girdle muscle atrophy... |
OMIM:606071 |
Hurler-Scheie Syndrome |
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Hepatomegaly, Abnormal nerve conduction velocity |
ORPHA:93476 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
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Intrinsic hand muscle atrophy, Ataxia, Impaired vibratory sensation, Decreased pyruvate carboxyla... |
OMIM:302900 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
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Decreased motor nerve conduction velocity, Gait ataxia, Sensory ataxia, Decreased sensory nerve c... |
OMIM:616192 |
Friedreich Ataxia |
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Limb ataxia, Dysmetria, Decreased motor nerve conduction velocity, Hand muscle atrophy, Sensory a... |
ORPHA:95 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
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Optic atrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy |
OMIM:615419 |
Acromicric Dysplasia |
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Decreased nerve conduction velocity |
ORPHA:969 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
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Decreased motor nerve conduction velocity, Increased variability in muscle fiber diameter, Decrea... |
OMIM:619026 |
Leukodystrophy, Hypomyelinating, 5 |
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Onion bulb formation, Decreased motor nerve conduction velocity, Lower limb amyotrophy, Lower lim... |
OMIM:610532 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Ataxia, EEG abnormality, Hepatomegaly, Decreased sensory nerve conduction velocity, Joint contrac... |
ORPHA:456312 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Short-segment aganglionic megacolon, Absent brainstem auditory responses, Torticollis, Ataxia, De... |
OMIM:609136 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Abnormality of peripheral nerve conduction, Abnormal peripheral myelination, Skeletal muscle atro... |
ORPHA:168563 |
Neuromuscular Oculoauditory Syndrome |
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Muscle fiber necrosis, Decreased nerve conduction velocity, Peripheral hypomyelination, EMG: myop... |
OMIM:618733 |
Gilbert Syndrome |
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Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
Lethal Ataxia With Deafness And Optic Atrophy |
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Ataxia, EEG with focal epileptiform discharges, Decreased motor nerve conduction velocity, Abnorm... |
ORPHA:1187 |
Yuan-Harel-Lupski Syndrome |
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Gait ataxia, Decreased nerve conduction velocity, Distal sensory impairment |
OMIM:616652 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Optic atrophy, Ataxia, Decreased nerve conduction velocity |
OMIM:256600 |
Peroxisome Biogenesis Disorder 4B |
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Decreased liver function, Ataxia, Hepatomegaly, Decreased nerve conduction velocity, Optic atrophy |
OMIM:614863 |
Combined Oxidative Phosphorylation Defect Type 39 |
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EEG abnormality, Decreased nerve conduction velocity, Congenital foot contractures, Abnormal enzy... |
ORPHA:565624 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Decreased nerve conduction velocity, Cholecystitis, Optic atrophy, Gait ataxia, Progressive gait ... |
ORPHA:309256 |
Charcot-Marie-Tooth Disease Type 4C |
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Sensory ataxia, Weakness of facial musculature, Decreased motor nerve conduction velocity, Positi... |
ORPHA:99949 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Abnormal enzyme/coenzyme activity, Optic atrophy, Hyperesthe... |
ORPHA:206436 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Decreased nerve conduction velocity, Distal sensory impairment, Foot dorsiflexor weakness, Distal... |
ORPHA:477817 |
Poliomyelitis |
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Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Lower limb muscle weakness, A... |
ORPHA:2912 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Hand muscle weakness, Proximal muscle weakness in lower limbs, Weakness of facial musculature, My... |
ORPHA:99956 |
Metachromatic Leukodystrophy, Juvenile Form |
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Optic atrophy, Decreased nerve conduction velocity, Progressive gait ataxia, Cholecystitis |
ORPHA:309263 |
Metachromatic Leukodystrophy, Adult Form |
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Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunction, Chorea... |
ORPHA:309271 |
Scheie Syndrome |
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Hepatomegaly, Abnormal nerve conduction velocity |
ORPHA:93474 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
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Elevated hepatic transaminase, Jaundice, Intrahepatic cholestasis, Abnormal liver function tests ... |
OMIM:147480 |
Bickerstaff Brainstem Encephalitis |
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Impaired proprioception, Ataxia, EEG abnormality, Sensory ataxia, Weakness of facial musculature,... |
ORPHA:79138 |
Wilson Disease |
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Hepatomegaly, Hypoesthesia, Decreased nerve conduction velocity, Hepatic failure, Acute hepatic f... |
OMIM:277900 |
Congenital Bile Acid Synthesis Defect Type 4 |
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Cholelithiasis, Ataxia, Giant cell hepatitis, Cholestatic liver disease, Abnormal enzyme/coenzyme... |
ORPHA:79095 |
Chediak-Higashi Syndrome |
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Ataxia, Hepatomegaly, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Jaundice |
OMIM:214500 |
Cog8-Cdg |
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Chronic axonal neuropathy, Ataxia, Skeletal muscle atrophy, Elevated hepatic transaminase |
ORPHA:95428 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis... |
OMIM:613812 |
Chylomicron Retention Disease |
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EMG: myopathic abnormalities, Elevated hepatic transaminase, Increased hepatocellular lipid dropl... |
ORPHA:71 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve condu... |
ORPHA:909 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Ataxia, Hepatomegaly, Optic atrophy, Elevated hepatic transa... |
ORPHA:90321 |
Xeroderma Pigmentosum, Complementation Group B |
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Optic atrophy, Ataxia, Decreased nerve conduction velocity |
OMIM:610651 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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EEG abnormality, Decreased nerve conduction velocity, Optic atrophy, Optic disc pallor, Hypsarrhy... |
ORPHA:485421 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... |
OMIM:214950 |
Gallbladder Disease 1 |
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Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Cholestasis, Cholecystit... |
OMIM:600803 |
Warburg Micro Syndrome 4 |
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Optic atrophy, Decreased motor nerve conduction velocity, Decreased muscle mass, Flexion contracture |
OMIM:615663 |
Metachromatic Leukodystrophy |
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Abnormal gallbladder morphology, Ataxia, Hemobilia, Decreased nerve conduction velocity, Abnormal... |
ORPHA:512 |
Friedreich Ataxia 2 |
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Abnormality of peripheral nerve conduction, Ataxia, Decreased pyruvate carboxylase activity, Impa... |
OMIM:601992 |
D-Bifunctional Protein Deficiency |
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Hepatomegaly, Decreased nerve conduction velocity, Cholestasis, Elevated hepatic transaminase, Bi... |
OMIM:261515 |
Biliary Atresia, Extrahepatic |
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Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Multiple Sulfatase Deficiency |
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Optic atrophy, Abnormality of peripheral nerve conduction, Hepatomegaly |
ORPHA:585 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated ... |
OMIM:235555 |
Chédiak-Higashi Syndrome |
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Decreased liver function, Ataxia, Decreased nerve conduction velocity, Hepatosplenomegaly, Increa... |
ORPHA:167 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Bile duct proli... |
OMIM:602347 |
Hurler Syndrome |
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Camptodactyly of finger, Hepatomegaly, Macroglossia, Abnormal nerve conduction velocity |
ORPHA:93473 |
Congenital Disorder Of Deglycosylation 1 |
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Intrinsic hand muscle atrophy, Pain insensitivity, Hepatomegaly, Decreased sensory nerve conducti... |
OMIM:615273 |
Low Phospholipid-Associated Cholelithiasis |
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Cholelithiasis, Neoplasm of the liver, Hepatocellular carcinoma, Sclerosing cholangitis, Elevated... |
ORPHA:69663 |
Japanese Encephalitis |
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EEG abnormality, Decreased motor nerve conduction velocity, EEG with burst suppression, Choreoath... |
ORPHA:79139 |
Cockayne Syndrome |
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Ataxia, Hepatomegaly, Decreased nerve conduction velocity, Limb hypertonia, Peripheral axonal neu... |
ORPHA:191 |
Cockayne Syndrome A |
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Hip contracture, Abnormal peripheral myelination, Ataxia, Hepatomegaly, Decreased nerve conductio... |
OMIM:216400 |
Neutral Lipid Storage Myopathy |
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Hand muscle weakness, Hepatomegaly, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsifle... |
ORPHA:98908 |
Friedreich Ataxia And Congenital Glaucoma |
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Decreased amplitude of sensory action potentials, Ataxia, Decreased pyruvate carboxylase activity... |
OMIM:229310 |
Cockayne Syndrome Type 3 |
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Hepatomegaly, Flexion contracture, Peripheral axonal neuropathy, Optic disc pallor, Elevated hepa... |
ORPHA:90324 |
Cockayne Syndrome B |
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Abnormal peripheral myelination, Ataxia, Hepatomegaly, Decreased nerve conduction velocity, Optic... |
OMIM:133540 |
Choreoacanthocytosis |
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Muscle fiber atrophy, Hepatomegaly, Abnormal autonomic nervous system physiology, Impaired vibrat... |
ORPHA:2388 |
Parenteral Nutrition-Associated Cholestasis |
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Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic fa... |
ORPHA:567983 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Pain insensitivity, Trophic limb changes, Orthostatic hypotension due to autonomic dysfunction, A... |
ORPHA:642 |
Mucopolysaccharidosis Type 2 |
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Flexion contracture of digit, Hepatomegaly, Decreased nerve conduction velocity, Macroglossia, Pa... |
ORPHA:580 |
Hypermobile Ehlers-Danlos Syndrome |
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Paresthesia, Aplasia/Hypoplasia of the abdominal wall musculature, Decreased nerve conduction vel... |
ORPHA:285 |