Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system morphology (HP:0012639)help
Parent Node:
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Abnormal peripheral nervous system morphology (HP:0000759)help
..Starting node
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Abnormality of peripheral nerves (HP:0045010)help
Term ID: 45010
Name: Abnormality of peripheral nerves
Synonym:
Definition:
Comments:
Reference: HP:0045010
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of peripheral nerve conduction (HP:0003134) help
................... HP:0030179 Abnormal peripheral action potential amplitude
................... HP:0040129 Abnormal nerve conduction velocity
........expandPeripheral nerve compression (HP:0003406) help
........expandPalmar neurofibromas (HP:0007576) help
........expandEnlarged peripheral nerve (HP:0012645) help
........expandAmyloidosis of peripheral nerves (HP:0100292) help
........expandAbnormal glossopharyngeal nerve morphology (HP:3000047) help
........expandAbnormal great auricular nerve morphology (HP:3000048) help
........expandAbnormality of inferior alveolar nerve (HP:3000055) help
........expandAbnormality of infra-orbital nerve (HP:3000061) help
........expandAbnormal lingual nerve morphology (HP:3000075) help
................... HP:0010826 Abnormality of the twelfth cranial nerve

 Sister Nodes: 
..expandAbnormal anterior horn cell morphology (HP:0006802) help
..expandAbnormal cranial nerve morphology (HP:0001291) help
..expandAbnormal lower motor neuron morphology (HP:0002366) help
..expandAbnormal peripheral myelination (HP:0003130) help
..expandDecreased size of nerve terminals (HP:0003443) help
..expandDiffuse axonal swelling (HP:0003405) help
..expandEnhanced neurotoxicity of vincristine (HP:0003009) help
..expandHypertrophic nerve changes (HP:0003382) help
..expandMinifascicle formation (HP:0031001) help
..expandNeoplasm of the peripheral nervous system (HP:0100007) help
..expandNeuritis (HP:0031002) help
..expandPeripheral axonal degeneration (HP:0000764) help
..expandPeripheral neuropathy (HP:0009830) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0045010HP:0045010Abnormality of peripheral nerves0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0045010HP:0045010Abnormality of peripheral nerves0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0045010HP:0045010Abnormality of peripheral nerves0AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 460
HP:0045010HP:0045010Abnormality of peripheral nerves0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0045010HP:0045010Abnormality of peripheral nerves0ARHGEF10 CL E G H963914103OMIM:608236Slowed nerve conduction velocity, autosomal dominant12
HP:0045010HP:0045010Abnormality of peripheral nerves0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy253
HP:0045010HP:0045010Abnormality of peripheral nerves0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0045010HP:0045010Abnormality of peripheral nerves0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0045010HP:0045010Abnormality of peripheral nerves0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0045010HP:0045010Abnormality of peripheral nerves0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 171
HP:0045010HP:0045010Abnormality of peripheral nerves0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 15
HP:0045010HP:0045010Abnormality of peripheral nerves0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0045010HP:0045010Abnormality of peripheral nerves0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0045010HP:0045010Abnormality of peripheral nerves0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0045010HP:0045010Abnormality of peripheral nerves0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0045010HP:0045010Abnormality of peripheral nerves0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0045010HP:0045010Abnormality of peripheral nerves0B2M CL E G H567914ORPHA:314652Variant ABeta2M amyloidosis8
HP:0045010HP:0045010Abnormality of peripheral nerves0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0045010HP:0045010Abnormality of peripheral nerves0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0045010HP:0045010Abnormality of peripheral nerves0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0045010HP:0045010Abnormality of peripheral nerves0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0045010HP:0045010Abnormality of peripheral nerves0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0045010HP:0045010Abnormality of peripheral nerves0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0045010HP:0045010Abnormality of peripheral nerves0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0045010HP:0045010Abnormality of peripheral nerves0CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophy
HP:0045010HP:0045010Abnormality of peripheral nerves0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0045010HP:0045010Abnormality of peripheral nerves0CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophy
HP:0045010HP:0045010Abnormality of peripheral nerves0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0045010HP:0045010Abnormality of peripheral nerves0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0045010HP:0045010Abnormality of peripheral nerves0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0045010HP:0045010Abnormality of peripheral nerves0DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant2
HP:0045010HP:0045010Abnormality of peripheral nerves0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0045010HP:0045010Abnormality of peripheral nerves0DHH CL E G H508462865ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndromeHP:0040281 - Very frequent21
HP:0045010HP:0045010Abnormality of peripheral nerves0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0045010HP:0045010Abnormality of peripheral nerves0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0045010HP:0045010Abnormality of peripheral nerves0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0045010HP:0045010Abnormality of peripheral nerves0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0045010HP:0045010Abnormality of peripheral nerves0DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5167
HP:0045010HP:0045010Abnormality of peripheral nerves0EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D58
HP:0045010HP:0045010Abnormality of peripheral nerves0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0045010HP:0045010Abnormality of peripheral nerves0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive58
HP:0045010HP:0045010Abnormality of peripheral nerves0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0045010HP:0045010Abnormality of peripheral nerves0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B54
HP:0045010HP:0045010Abnormality of peripheral nerves0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0045010HP:0045010Abnormality of peripheral nerves0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0045010HP:0045010Abnormality of peripheral nerves0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0045010HP:0045010Abnormality of peripheral nerves0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0045010HP:0045010Abnormality of peripheral nerves0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0045010HP:0045010Abnormality of peripheral nerves0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0045010HP:0045010Abnormality of peripheral nerves0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0045010HP:0045010Abnormality of peripheral nerves0EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I96
HP:0045010HP:0045010Abnormality of peripheral nerves0EXT1 CL E G H21313512ORPHA:321Multiple osteochondromas96
HP:0045010HP:0045010Abnormality of peripheral nerves0EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II102
HP:0045010HP:0045010Abnormality of peripheral nerves0EXT2 CL E G H21323513ORPHA:321Multiple osteochondromas102
HP:0045010HP:0045010Abnormality of peripheral nerves0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0045010HP:0045010Abnormality of peripheral nerves0FBN1 CL E G H22003603ORPHA:969Acromicric dysplasia1361
HP:0045010HP:0045010Abnormality of peripheral nerves0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0045010HP:0045010Abnormality of peripheral nerves0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0045010HP:0045010Abnormality of peripheral nerves0FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0045010HP:0045010Abnormality of peripheral nerves0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0045010HP:0045010Abnormality of peripheral nerves0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040282 - Frequent111
HP:0045010HP:0045010Abnormality of peripheral nerves0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0045010HP:0045010Abnormality of peripheral nerves0FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0045010HP:0045010Abnormality of peripheral nerves0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0045010HP:0045010Abnormality of peripheral nerves0GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0045010HP:0045010Abnormality of peripheral nerves0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0045010HP:0045010Abnormality of peripheral nerves0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0045010HP:0045010Abnormality of peripheral nerves0GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2K108
HP:0045010HP:0045010Abnormality of peripheral nerves0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0045010HP:0045010Abnormality of peripheral nerves0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K108
HP:0045010HP:0045010Abnormality of peripheral nerves0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0045010HP:0045010Abnormality of peripheral nerves0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A108
HP:0045010HP:0045010Abnormality of peripheral nerves0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0045010HP:0045010Abnormality of peripheral nerves0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0045010HP:0045010Abnormality of peripheral nerves0GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1107
HP:0045010HP:0045010Abnormality of peripheral nerves0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0045010HP:0045010Abnormality of peripheral nerves0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0045010HP:0045010Abnormality of peripheral nerves0HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type11
HP:0045010HP:0045010Abnormality of peripheral nerves0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0045010HP:0045010Abnormality of peripheral nerves0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0045010HP:0045010Abnormality of peripheral nerves0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F47
HP:0045010HP:0045010Abnormality of peripheral nerves0HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L38
HP:0045010HP:0045010Abnormality of peripheral nerves0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0045010HP:0045010Abnormality of peripheral nerves0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0045010HP:0045010Abnormality of peripheral nerves0IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndrome115
HP:0045010HP:0045010Abnormality of peripheral nerves0IDUA CL E G H34255391ORPHA:93474Scheie syndrome115
HP:0045010HP:0045010Abnormality of peripheral nerves0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0045010HP:0045010Abnormality of peripheral nerves0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K1
HP:0045010HP:0045010Abnormality of peripheral nerves0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0045010HP:0045010Abnormality of peripheral nerves0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0045010HP:0045010Abnormality of peripheral nerves0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0045010HP:0045010Abnormality of peripheral nerves0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0045010HP:0045010Abnormality of peripheral nerves0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy1
HP:0045010HP:0045010Abnormality of peripheral nerves0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0045010HP:0045010Abnormality of peripheral nerves0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0045010HP:0045010Abnormality of peripheral nerves0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1645
HP:0045010HP:0045010Abnormality of peripheral nerves0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0045010HP:0045010Abnormality of peripheral nerves0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P102
HP:0045010HP:0045010Abnormality of peripheral nerves0LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasia12
HP:0045010HP:0045010Abnormality of peripheral nerves0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0045010HP:0045010Abnormality of peripheral nerves0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0045010HP:0045010Abnormality of peripheral nerves0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0045010HP:0045010Abnormality of peripheral nerves0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0045010HP:0045010Abnormality of peripheral nerves0MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B243
HP:0045010HP:0045010Abnormality of peripheral nerves0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect17
HP:0045010HP:0045010Abnormality of peripheral nerves0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A203
HP:0045010HP:0045010Abnormality of peripheral nerves0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0045010HP:0045010Abnormality of peripheral nerves0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0045010HP:0045010Abnormality of peripheral nerves0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0045010HP:0045010Abnormality of peripheral nerves0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0045010HP:0045010Abnormality of peripheral nerves0MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1B134
HP:0045010HP:0045010Abnormality of peripheral nerves0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B134
HP:0045010HP:0045010Abnormality of peripheral nerves0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0045010HP:0045010Abnormality of peripheral nerves0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0045010HP:0045010Abnormality of peripheral nerves0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0045010HP:0045010Abnormality of peripheral nerves0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0045010HP:0045010Abnormality of peripheral nerves0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B188
HP:0045010HP:0045010Abnormality of peripheral nerves0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0045010HP:0045010Abnormality of peripheral nerves0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0045010HP:0045010Abnormality of peripheral nerves0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 148
HP:0045010HP:0045010Abnormality of peripheral nerves0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0045010HP:0045010Abnormality of peripheral nerves0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D82
HP:0045010HP:0045010Abnormality of peripheral nerves0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E118
HP:0045010HP:0045010Abnormality of peripheral nerves0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0045010HP:0045010Abnormality of peripheral nerves0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0045010HP:0045010Abnormality of peripheral nerves0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F118
HP:0045010HP:0045010Abnormality of peripheral nerves0NEU1 CL E G H47587758ORPHA:812Sialidosis type 143
HP:0045010HP:0045010Abnormality of peripheral nerves0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0045010HP:0045010Abnormality of peripheral nerves0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0045010HP:0045010Abnormality of peripheral nerves0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0045010HP:0045010Abnormality of peripheral nerves0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0045010HP:0045010Abnormality of peripheral nerves0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0045010HP:0045010Abnormality of peripheral nerves0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B98
HP:0045010HP:0045010Abnormality of peripheral nerves0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0045010HP:0045010Abnormality of peripheral nerves0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A133
HP:0045010HP:0045010Abnormality of peripheral nerves0PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C186
HP:0045010HP:0045010Abnormality of peripheral nerves0PLP1 CL E G H53549086ORPHA:280234Null syndrome60
HP:0045010HP:0045010Abnormality of peripheral nerves0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0045010HP:0045010Abnormality of peripheral nerves0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness79
HP:0045010HP:0045010Abnormality of peripheral nerves0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1A79
HP:0045010HP:0045010Abnormality of peripheral nerves0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0045010HP:0045010Abnormality of peripheral nerves0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A79
HP:0045010HP:0045010Abnormality of peripheral nerves0PMP22 CL E G H53769118ORPHA:640Hereditary neuropathy with liability to pressure palsies79
HP:0045010HP:0045010Abnormality of peripheral nerves0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0045010HP:0045010Abnormality of peripheral nerves0PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies79
HP:0045010HP:0045010Abnormality of peripheral nerves0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0045010HP:0045010Abnormality of peripheral nerves0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0045010HP:0045010Abnormality of peripheral nerves0PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2244
HP:0045010HP:0045010Abnormality of peripheral nerves0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0045010HP:0045010Abnormality of peripheral nerves0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0045010HP:0045010Abnormality of peripheral nerves0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy464
HP:0045010HP:0045010Abnormality of peripheral nerves0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0045010HP:0045010Abnormality of peripheral nerves0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophy49
HP:0045010HP:0045010Abnormality of peripheral nerves0PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 549
HP:0045010HP:0045010Abnormality of peripheral nerves0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0045010HP:0045010Abnormality of peripheral nerves0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0045010HP:0045010Abnormality of peripheral nerves0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0045010HP:0045010Abnormality of peripheral nerves0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency81
HP:0045010HP:0045010Abnormality of peripheral nerves0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0045010HP:0045010Abnormality of peripheral nerves0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0045010HP:0045010Abnormality of peripheral nerves0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0045010HP:0045010Abnormality of peripheral nerves0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0045010HP:0045010Abnormality of peripheral nerves0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0045010HP:0045010Abnormality of peripheral nerves0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome150
HP:0045010HP:0045010Abnormality of peripheral nerves0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0045010HP:0045010Abnormality of peripheral nerves0REEP1 CL E G H6505525786OMIM:614751Neuronopathy, distal hereditary motor, type VB87
HP:0045010HP:0045010Abnormality of peripheral nerves0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0045010HP:0045010Abnormality of peripheral nerves0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0045010HP:0045010Abnormality of peripheral nerves0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy125
HP:0045010HP:0045010Abnormality of peripheral nerves0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0045010HP:0045010Abnormality of peripheral nerves0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome4
HP:0045010HP:0045010Abnormality of peripheral nerves0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0045010HP:0045010Abnormality of peripheral nerves0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0045010HP:0045010Abnormality of peripheral nerves0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2180
HP:0045010HP:0045010Abnormality of peripheral nerves0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0045010HP:0045010Abnormality of peripheral nerves0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0045010HP:0045010Abnormality of peripheral nerves0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0045010HP:0045010Abnormality of peripheral nerves0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0045010HP:0045010Abnormality of peripheral nerves0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0045010HP:0045010Abnormality of peripheral nerves0SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 26
HP:0045010HP:0045010Abnormality of peripheral nerves0SLC12A6 CL E G H999010914OMIM:620068163
HP:0045010HP:0045010Abnormality of peripheral nerves0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0045010HP:0045010Abnormality of peripheral nerves0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome88
HP:0045010HP:0045010Abnormality of peripheral nerves0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndrome94
HP:0045010HP:0045010Abnormality of peripheral nerves0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0045010HP:0045010Abnormality of peripheral nerves0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0045010HP:0045010Abnormality of peripheral nerves0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 2128
HP:0045010HP:0045010Abnormality of peripheral nerves0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 154
HP:0045010HP:0045010Abnormality of peripheral nerves0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0045010HP:0045010Abnormality of peripheral nerves0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1149
HP:0045010HP:0045010Abnormality of peripheral nerves0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0045010HP:0045010Abnormality of peripheral nerves0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria66
HP:0045010HP:0045010Abnormality of peripheral nerves0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiency80
HP:0045010HP:0045010Abnormality of peripheral nerves0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0045010HP:0045010Abnormality of peripheral nerves0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0045010HP:0045010Abnormality of peripheral nerves0TFG CL E G H1034211758ORPHA:431329Autosomal recessive spastic paraplegia type 5718
HP:0045010HP:0045010Abnormality of peripheral nerves0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0045010HP:0045010Abnormality of peripheral nerves0TPI1 CL E G H716712009ORPHA:868Triose phosphate-isomerase deficiency28
HP:0045010HP:0045010Abnormality of peripheral nerves0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0045010HP:0045010Abnormality of peripheral nerves0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy138
HP:0045010HP:0045010Abnormality of peripheral nerves0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0045010HP:0045010Abnormality of peripheral nerves0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0045010HP:0045010Abnormality of peripheral nerves0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0045010HP:0045010Abnormality of peripheral nerves0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0045010HP:0045010Abnormality of peripheral nerves0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0045010HP:0045010Abnormality of peripheral nerves0YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C
HP:0045010HP:3000047Abnormal glossopharyngeal nerve morphology1 CL E G H
HP:0045010HP:0032145Sural nerve atrophy1 CL E G H
HP:0045010HP:0007576Palmar neurofibromas1 CL E G H
HP:0045010HP:3000055Abnormality of inferior alveolar nerve1 CL E G H
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 460
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ARHGEF10 CL E G H963914103OMIM:608236Slowed nerve conduction velocity, autosomal dominant12
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy253
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 171
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 15
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0045010HP:0100292Amyloidosis of peripheral nerves1B2M CL E G H567914ORPHA:314652Variant ABeta2M amyloidosisHP:0040283 - Occasional8
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1CEP126 CL E G H5756229264ORPHA:65684Monomelic amyotrophyHP:0040282 - Frequent
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1CPLANE1 CL E G H6525025801ORPHA:65684Monomelic amyotrophyHP:0040282 - Frequent
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant2
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1DHH CL E G H508462865ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndromeHP:0040281 - Very frequent21
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0045010HP:3000075Abnormal lingual nerve morphology1DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5167
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D58
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive58
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1EMILIN1 CL E G H1111719880OMIM:6200802
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B54
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0045010HP:0003406Peripheral nerve compression1EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0045010HP:0003406Peripheral nerve compression1EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040284 - Very rare96
HP:0045010HP:0003406Peripheral nerve compression1EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102
HP:0045010HP:0003406Peripheral nerve compression1EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040284 - Very rare102
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1FBN1 CL E G H22003603ORPHA:969Acromicric dysplasia1361
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2K108
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K108
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A108
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1107
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type11
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F47
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L38
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndrome115
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1IDUA CL E G H34255391ORPHA:93474Scheie syndrome115
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K1
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy1
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1645
HP:0045010HP:0012645Enlarged peripheral nerve1LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P102
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasia12
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B243
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect17
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A203
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1B134
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B134
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B188
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 148
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D82
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E118
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F118
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NEU1 CL E G H47587758ORPHA:812Sialidosis type 143
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040281 - Very frequent97
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B98
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040282 - Frequent133
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A133
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C186
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PLP1 CL E G H53549086ORPHA:280234Null syndromeHP:0040281 - Very frequent60
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness79
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1A79
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A79
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PMP22 CL E G H53769118ORPHA:640Hereditary neuropathy with liability to pressure palsies79
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies79
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2244
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy464
HP:0045010HP:0100292Amyloidosis of peripheral nerves1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040283 - Occasional69
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophy49
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 549
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency81
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome150
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1REEP1 CL E G H6505525786OMIM:614751Neuronopathy, distal hereditary motor, type VB87
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy125
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome4
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2180
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0045010HP:3000048Abnormal great auricular nerve morphology1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 26
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SLC12A6 CL E G H999010914OMIM:620068163
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome88
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040282 - Frequent94
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040282 - Frequent28
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 154
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1149
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria66
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040281 - Very frequent80
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1TFG CL E G H1034211758ORPHA:431329Autosomal recessive spastic paraplegia type 57HP:0040280 - Obligate18
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1TPI1 CL E G H716712009ORPHA:868Triose phosphate-isomerase deficiency28
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy138
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0045010HP:0003134Abnormality of peripheral nerve conduction1YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C
HP:0045010HP:0040129Abnormal nerve conduction velocity2AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0045010HP:0040129Abnormal nerve conduction velocity2ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract50
HP:0045010HP:0040129Abnormal nerve conduction velocity2AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 460
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0045010HP:0040129Abnormal nerve conduction velocity2ARHGEF10 CL E G H963914103OMIM:608236Slowed nerve conduction velocity, autosomal dominant12
HP:0045010HP:0040129Abnormal nerve conduction velocity2ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy253
HP:0045010HP:0040129Abnormal nerve conduction velocity2ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0045010HP:0040129Abnormal nerve conduction velocity2ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0045010HP:0040129Abnormal nerve conduction velocity2ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 171
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 15
HP:0045010HP:0040129Abnormal nerve conduction velocity2ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0045010HP:0040129Abnormal nerve conduction velocity2ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0045010HP:0040129Abnormal nerve conduction velocity2ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0045010HP:0040129Abnormal nerve conduction velocity2ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0045010HP:0040129Abnormal nerve conduction velocity2ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0045010HP:0040129Abnormal nerve conduction velocity2BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0045010HP:0040129Abnormal nerve conduction velocity2BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0045010HP:0040129Abnormal nerve conduction velocity2BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0045010HP:0040129Abnormal nerve conduction velocity2CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0045010HP:0040129Abnormal nerve conduction velocity2CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0045010HP:0040129Abnormal nerve conduction velocity2CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0045010HP:0040129Abnormal nerve conduction velocity2CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0045010HP:0040129Abnormal nerve conduction velocity2CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0045010HP:0040129Abnormal nerve conduction velocity2DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant2
HP:0045010HP:0040129Abnormal nerve conduction velocity2DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0045010HP:0040129Abnormal nerve conduction velocity2DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0045010HP:0010826Abnormality of the twelfth cranial nerve2DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040282 - Frequent
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0045010HP:0040129Abnormal nerve conduction velocity2DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0045010HP:0040129Abnormal nerve conduction velocity2DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5167
HP:0045010HP:0040129Abnormal nerve conduction velocity2EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D58
HP:0045010HP:0040129Abnormal nerve conduction velocity2EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0045010HP:0040129Abnormal nerve conduction velocity2EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive58
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2EMILIN1 CL E G H1111719880OMIM:6200802
HP:0045010HP:0040129Abnormal nerve conduction velocity2ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B54
HP:0045010HP:0040129Abnormal nerve conduction velocity2ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0045010HP:0040129Abnormal nerve conduction velocity2ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0045010HP:0040129Abnormal nerve conduction velocity2FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 363
HP:0045010HP:0040129Abnormal nerve conduction velocity2FBN1 CL E G H22003603ORPHA:969Acromicric dysplasia1361
HP:0045010HP:0040129Abnormal nerve conduction velocity2FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0045010HP:0040129Abnormal nerve conduction velocity2FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0045010HP:0040129Abnormal nerve conduction velocity2FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0045010HP:0040129Abnormal nerve conduction velocity2FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0045010HP:0040129Abnormal nerve conduction velocity2FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0045010HP:0040129Abnormal nerve conduction velocity2FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0045010HP:0040129Abnormal nerve conduction velocity2FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0045010HP:0040129Abnormal nerve conduction velocity2GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0045010HP:0040129Abnormal nerve conduction velocity2GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0045010HP:0040129Abnormal nerve conduction velocity2GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0045010HP:0040129Abnormal nerve conduction velocity2GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0045010HP:0040129Abnormal nerve conduction velocity2GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2K108
HP:0045010HP:0040129Abnormal nerve conduction velocity2GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0045010HP:0040129Abnormal nerve conduction velocity2GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K108
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0045010HP:0040129Abnormal nerve conduction velocity2GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0045010HP:0040129Abnormal nerve conduction velocity2GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A108
HP:0045010HP:0040129Abnormal nerve conduction velocity2GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0045010HP:0040129Abnormal nerve conduction velocity2GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0045010HP:0040129Abnormal nerve conduction velocity2GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1HP:0040281 - Very frequent107
HP:0045010HP:0040129Abnormal nerve conduction velocity2GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0045010HP:0040129Abnormal nerve conduction velocity2HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0045010HP:0040129Abnormal nerve conduction velocity2HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type11
HP:0045010HP:0040129Abnormal nerve conduction velocity2HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0045010HP:0040129Abnormal nerve conduction velocity2HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0045010HP:0040129Abnormal nerve conduction velocity2HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F47
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L38
HP:0045010HP:0040129Abnormal nerve conduction velocity2HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0045010HP:0040129Abnormal nerve conduction velocity2IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040283 - Occasional115
HP:0045010HP:0040129Abnormal nerve conduction velocity2IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndromeHP:0040282 - Frequent115
HP:0045010HP:0040129Abnormal nerve conduction velocity2IDUA CL E G H34255391ORPHA:93474Scheie syndromeHP:0040281 - Very frequent115
HP:0045010HP:0040129Abnormal nerve conduction velocity2IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1209
HP:0045010HP:0040129Abnormal nerve conduction velocity2JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K1
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0045010HP:0040129Abnormal nerve conduction velocity2KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II276
HP:0045010HP:0040129Abnormal nerve conduction velocity2KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0045010HP:0040129Abnormal nerve conduction velocity2LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0045010HP:0040129Abnormal nerve conduction velocity2LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy1
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0045010HP:0040129Abnormal nerve conduction velocity2LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0045010HP:0040129Abnormal nerve conduction velocity2LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0045010HP:0040129Abnormal nerve conduction velocity2LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1645
HP:0045010HP:0040129Abnormal nerve conduction velocity2LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P102
HP:0045010HP:0040129Abnormal nerve conduction velocity2LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasia12
HP:0045010HP:0040129Abnormal nerve conduction velocity2LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndrome239
HP:0045010HP:0040129Abnormal nerve conduction velocity2LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0045010HP:0040129Abnormal nerve conduction velocity2MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0045010HP:0040129Abnormal nerve conduction velocity2MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0045010HP:0040129Abnormal nerve conduction velocity2MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B243
HP:0045010HP:0040129Abnormal nerve conduction velocity2MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect17
HP:0045010HP:0040129Abnormal nerve conduction velocity2MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A203
HP:0045010HP:0040129Abnormal nerve conduction velocity2MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0045010HP:0040129Abnormal nerve conduction velocity2MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0045010HP:0040129Abnormal nerve conduction velocity2MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0045010HP:0040129Abnormal nerve conduction velocity2MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1B134
HP:0045010HP:0040129Abnormal nerve conduction velocity2MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B134
HP:0045010HP:0040129Abnormal nerve conduction velocity2MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0045010HP:0040129Abnormal nerve conduction velocity2MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0045010HP:0040129Abnormal nerve conduction velocity2MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0045010HP:0040129Abnormal nerve conduction velocity2MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0045010HP:0040129Abnormal nerve conduction velocity2MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B188
HP:0045010HP:0040129Abnormal nerve conduction velocity2MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0045010HP:0040129Abnormal nerve conduction velocity2MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0045010HP:0040129Abnormal nerve conduction velocity2NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 148
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0045010HP:0040129Abnormal nerve conduction velocity2NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0045010HP:0040129Abnormal nerve conduction velocity2NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D82
HP:0045010HP:0040129Abnormal nerve conduction velocity2NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E118
HP:0045010HP:0040129Abnormal nerve conduction velocity2NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0045010HP:0040129Abnormal nerve conduction velocity2NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0045010HP:0040129Abnormal nerve conduction velocity2NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F118
HP:0045010HP:0040129Abnormal nerve conduction velocity2NEU1 CL E G H47587758ORPHA:812Sialidosis type 143
HP:0045010HP:0040129Abnormal nerve conduction velocity2NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0045010HP:0040129Abnormal nerve conduction velocity2NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0045010HP:0040129Abnormal nerve conduction velocity2NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0045010HP:0040129Abnormal nerve conduction velocity2PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0045010HP:0040129Abnormal nerve conduction velocity2PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B98
HP:0045010HP:0040129Abnormal nerve conduction velocity2PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A133
HP:0045010HP:0040129Abnormal nerve conduction velocity2PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C186
HP:0045010HP:0040129Abnormal nerve conduction velocity2PLP1 CL E G H53549086ORPHA:280234Null syndrome60
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0045010HP:0040129Abnormal nerve conduction velocity2PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness79
HP:0045010HP:0040129Abnormal nerve conduction velocity2PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1A79
HP:0045010HP:0040129Abnormal nerve conduction velocity2PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0045010HP:0040129Abnormal nerve conduction velocity2PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A79
HP:0045010HP:0040129Abnormal nerve conduction velocity2PMP22 CL E G H53769118ORPHA:640Hereditary neuropathy with liability to pressure palsies79
HP:0045010HP:0040129Abnormal nerve conduction velocity2PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0045010HP:0040129Abnormal nerve conduction velocity2PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies79
HP:0045010HP:0040129Abnormal nerve conduction velocity2PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0045010HP:0040129Abnormal nerve conduction velocity2PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0045010HP:0040129Abnormal nerve conduction velocity2PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2244
HP:0045010HP:0040129Abnormal nerve conduction velocity2PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0045010HP:0040129Abnormal nerve conduction velocity2PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0045010HP:0040129Abnormal nerve conduction velocity2POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy464
HP:0045010HP:0040129Abnormal nerve conduction velocity2PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophy49
HP:0045010HP:0040129Abnormal nerve conduction velocity2PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 5HP:0040281 - Very frequent49
HP:0045010HP:0040129Abnormal nerve conduction velocity2PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0045010HP:0040129Abnormal nerve conduction velocity2PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0045010HP:0040129Abnormal nerve conduction velocity2PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0045010HP:0040129Abnormal nerve conduction velocity2PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency81
HP:0045010HP:0040129Abnormal nerve conduction velocity2PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0045010HP:0040129Abnormal nerve conduction velocity2PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0045010HP:0040129Abnormal nerve conduction velocity2PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0045010HP:0040129Abnormal nerve conduction velocity2PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0045010HP:0040129Abnormal nerve conduction velocity2RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0045010HP:0040129Abnormal nerve conduction velocity2RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome150
HP:0045010HP:0040129Abnormal nerve conduction velocity2REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0045010HP:0040129Abnormal nerve conduction velocity2REEP1 CL E G H6505525786OMIM:614751Neuronopathy, distal hereditary motor, type VB87
HP:0045010HP:0040129Abnormal nerve conduction velocity2RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II54
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0045010HP:0040129Abnormal nerve conduction velocity2RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy125
HP:0045010HP:0040129Abnormal nerve conduction velocity2SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0045010HP:0040129Abnormal nerve conduction velocity2SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome4
HP:0045010HP:0040129Abnormal nerve conduction velocity2SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0045010HP:0040129Abnormal nerve conduction velocity2SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2180
HP:0045010HP:0040129Abnormal nerve conduction velocity2SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II318
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0045010HP:0040129Abnormal nerve conduction velocity2SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0045010HP:0040129Abnormal nerve conduction velocity2SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0045010HP:0034347Greater auricular nerve thickening2SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0045010HP:0040129Abnormal nerve conduction velocity2SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0045010HP:0040129Abnormal nerve conduction velocity2SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 26
HP:0045010HP:0040129Abnormal nerve conduction velocity2SLC12A6 CL E G H999010914OMIM:620068163
HP:0045010HP:0040129Abnormal nerve conduction velocity2SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0045010HP:0040129Abnormal nerve conduction velocity2SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome88
HP:0045010HP:0040129Abnormal nerve conduction velocity2SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0045010HP:0040129Abnormal nerve conduction velocity2SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 154
HP:0045010HP:0040129Abnormal nerve conduction velocity2SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1149
HP:0045010HP:0040129Abnormal nerve conduction velocity2SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0045010HP:0040129Abnormal nerve conduction velocity2SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria66
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0045010HP:0040129Abnormal nerve conduction velocity2TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040281 - Very frequent18
HP:0045010HP:0040129Abnormal nerve conduction velocity2TPI1 CL E G H716712009ORPHA:868Triose phosphate-isomerase deficiency28
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0045010HP:0040129Abnormal nerve conduction velocity2TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy138
HP:0045010HP:0040129Abnormal nerve conduction velocity2UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0045010HP:0040129Abnormal nerve conduction velocity2VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0045010HP:0040129Abnormal nerve conduction velocity2VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0045010HP:0030179Abnormal peripheral action potential amplitude2VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0045010HP:0040129Abnormal nerve conduction velocity2WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II199
HP:0045010HP:0040129Abnormal nerve conduction velocity2YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C
HP:0045010HP:0000762Decreased nerve conduction velocity3AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0045010HP:0000762Decreased nerve conduction velocity3ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0045010HP:0000762Decreased nerve conduction velocity3AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4HP:0040281 - Very frequent60
HP:0045010HP:0033383Decreased compound muscle action potential amplitude3ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0045010HP:0000762Decreased nerve conduction velocity3ARHGEF10 CL E G H963914103OMIM:608236Slowed nerve conduction velocity, autosomal dominant.12
HP:0045010HP:0000762Decreased nerve conduction velocity3ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0045010HP:0000762Decreased nerve conduction velocity3ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0045010HP:0000762Decreased nerve conduction velocity3ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0045010HP:0000762Decreased nerve conduction velocity3ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0045010HP:0007078Decreased amplitude of sensory action potentials3ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040281 - Very frequent71
HP:0045010HP:0007078Decreased amplitude of sensory action potentials3ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040281 - Very frequent5
HP:0045010HP:0000762Decreased nerve conduction velocity3ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0045010HP:0000762Decreased nerve conduction velocity3ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0045010HP:0040132Abnormal sensory nerve conduction velocity3ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0045010HP:0007078Decreased amplitude of sensory action potentials3ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0045010HP:0000762Decreased nerve conduction velocity3ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0045010HP:0000762Decreased nerve conduction velocity3ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040283 - Occasional105
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040284 - Very rare105
HP:0045010HP:0033383Decreased compound muscle action potential amplitude3BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0045010HP:0000762Decreased nerve conduction velocity3BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0045010HP:0033383Decreased compound muscle action potential amplitude3CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0045010HP:0000762Decreased nerve conduction velocity3CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0045010HP:0007078Decreased amplitude of sensory action potentials3CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0045010HP:0000762Decreased nerve conduction velocity3CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0045010HP:0040132Abnormal sensory nerve conduction velocity3CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0045010HP:0000762Decreased nerve conduction velocity3CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0045010HP:0000762Decreased nerve conduction velocity3CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant2
HP:0045010HP:0000762Decreased nerve conduction velocity3DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant2
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0045010HP:0000762Decreased nerve conduction velocity3DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18HP:0040284 - Very rare
HP:0045010HP:0000762Decreased nerve conduction velocity3DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0045010HP:0007078Decreased amplitude of sensory action potentials3DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0045010HP:0033383Decreased compound muscle action potential amplitude3DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0045010HP:0040132Abnormal sensory nerve conduction velocity3DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0045010HP:0000762Decreased nerve conduction velocity3DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0045010HP:0000762Decreased nerve conduction velocity3DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5.167
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D58
HP:0045010HP:0000762Decreased nerve conduction velocity3EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D58
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0045010HP:0000762Decreased nerve conduction velocity3EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0045010HP:0040132Abnormal sensory nerve conduction velocity3EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0045010HP:0000762Decreased nerve conduction velocity3EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive58
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive58
HP:0045010HP:0033383Decreased compound muscle action potential amplitude3EMILIN1 CL E G H1111719880OMIM:6200802
HP:0045010HP:0000762Decreased nerve conduction velocity3ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0045010HP:0000762Decreased nerve conduction velocity3ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0045010HP:0000762Decreased nerve conduction velocity3ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0045010HP:0000762Decreased nerve conduction velocity3FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 3HP:0040283 - Occasional63
HP:0045010HP:0000762Decreased nerve conduction velocity3FBN1 CL E G H22003603ORPHA:969Acromicric dysplasiaHP:0040282 - Frequent1361
HP:0045010HP:0000762Decreased nerve conduction velocity3FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0045010HP:0000762Decreased nerve conduction velocity3FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0045010HP:0000762Decreased nerve conduction velocity3FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0045010HP:0000762Decreased nerve conduction velocity3FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0045010HP:0040132Abnormal sensory nerve conduction velocity3FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0045010HP:0040132Abnormal sensory nerve conduction velocity3FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040283 - Occasional111
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0045010HP:0000762Decreased nerve conduction velocity3FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0045010HP:0040132Abnormal sensory nerve conduction velocity3FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0045010HP:0007078Decreased amplitude of sensory action potentials3FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0045010HP:0000762Decreased nerve conduction velocity3FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0045010HP:0000762Decreased nerve conduction velocity3GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent160
HP:0045010HP:0000762Decreased nerve conduction velocity3GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0045010HP:0000762Decreased nerve conduction velocity3GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040284 - Very rare
HP:0045010HP:0000762Decreased nerve conduction velocity3GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2KHP:0040282 - Frequent108
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0045010HP:0000762Decreased nerve conduction velocity3GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0045010HP:0000762Decreased nerve conduction velocity3GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K108
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K108
HP:0045010HP:0000762Decreased nerve conduction velocity3GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0045010HP:0007078Decreased amplitude of sensory action potentials3GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A108
HP:0045010HP:0000762Decreased nerve conduction velocity3GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A108
HP:0045010HP:0040132Abnormal sensory nerve conduction velocity3GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A108
HP:0045010HP:0000762Decreased nerve conduction velocity3GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0045010HP:0000762Decreased nerve conduction velocity3GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0045010HP:0000762Decreased nerve conduction velocity3GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0045010HP:0000762Decreased nerve conduction velocity3HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0045010HP:0007078Decreased amplitude of sensory action potentials3HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0045010HP:0040131Abnormal motor nerve conduction velocity3HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type11
HP:0045010HP:00007