Human Phenotype Ontology 
Grandparent Node:
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Abnormality of peripheral nerve conduction (HP:0003134)help
Parent Node:
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Abnormal nerve conduction velocity (HP:0040129)help
..Starting node
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Decreased nerve conduction velocity (HP:0000762)help
Term ID: 762
Name: Decreased nerve conduction velocity
Synonym: Decreased NCV; Decreased nerve conduction velocities; Delayed nerve conduction velocity; Reduced nerve conduction velocities; Slow nerve conduction velocity; Slowed nerve conduction velocities
Definition: A reduction in the speed at which electrical signals propagate along the axon of a neuron.
Comments:
Reference: HP:0000762
Genes and Diseases:
 
       Child Nodes:
........expandDecreased motor nerve conduction velocity (HP:0003431) help
........expandDecreased sensory nerve conduction velocity (HP:0003448) help
........expandMotor conduction block (HP:0012078) help

 Sister Nodes: 
..expandAbnormal motor nerve conduction velocity (HP:0040131) help
..expandAbnormal sensory nerve conduction velocity (HP:0040132) 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:0000762HP:0000762Decreased nerve conduction velocity0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0000762HP:0000762Decreased nerve conduction velocity0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0000762HP:0000762Decreased nerve conduction velocity0AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4HP:0040281 - Very frequent60
HP:0000762HP:0000762Decreased nerve conduction velocity0ARHGEF10 CL E G H963914103OMIM:608236Slowed nerve conduction velocity, autosomal dominant.12
HP:0000762HP:0000762Decreased nerve conduction velocity0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0000762HP:0000762Decreased nerve conduction velocity0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0000762HP:0000762Decreased nerve conduction velocity0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0000762HP:0000762Decreased nerve conduction velocity0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0000762HP:0000762Decreased nerve conduction velocity0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0000762HP:0000762Decreased nerve conduction velocity0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0000762HP:0000762Decreased nerve conduction velocity0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0000762HP:0000762Decreased nerve conduction velocity0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0000762HP:0000762Decreased nerve conduction velocity0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0000762HP:0000762Decreased nerve conduction velocity0CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia56
HP:0000762HP:0000762Decreased nerve conduction velocity0CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive56
HP:0000762HP:0000762Decreased nerve conduction velocity0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0000762HP:0000762Decreased nerve conduction velocity0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0000762HP:0000762Decreased nerve conduction velocity0DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant2
HP:0000762HP:0000762Decreased nerve conduction velocity0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18HP:0040284 - Very rare
HP:0000762HP:0000762Decreased nerve conduction velocity0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0000762HP:0000762Decreased nerve conduction velocity0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0000762HP:0000762Decreased nerve conduction velocity0DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5.167
HP:0000762HP:0000762Decreased nerve conduction velocity0EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D58
HP:0000762HP:0000762Decreased nerve conduction velocity0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0000762HP:0000762Decreased nerve conduction velocity0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive58
HP:0000762HP:0000762Decreased nerve conduction velocity0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0000762HP:0000762Decreased nerve conduction velocity0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000762HP:0000762Decreased nerve conduction velocity0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000762HP:0000762Decreased nerve conduction velocity0FBLN5 CL E G H105163602OMIM:608895Macular degeneration, age-related, 3HP:0040283 - Occasional63
HP:0000762HP:0000762Decreased nerve conduction velocity0FBN1 CL E G H22003603ORPHA:969Acromicric dysplasiaHP:0040282 - Frequent1361
HP:0000762HP:0000762Decreased nerve conduction velocity0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0000762HP:0000762Decreased nerve conduction velocity0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0000762HP:0000762Decreased nerve conduction velocity0FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0000762HP:0000762Decreased nerve conduction velocity0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0000762HP:0000762Decreased nerve conduction velocity0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0000762HP:0000762Decreased nerve conduction velocity0FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0000762HP:0000762Decreased nerve conduction velocity0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent160
HP:0000762HP:0000762Decreased nerve conduction velocity0GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0000762HP:0000762Decreased nerve conduction velocity0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0000762HP:0000762Decreased nerve conduction velocity0GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2KHP:0040282 - Frequent108
HP:0000762HP:0000762Decreased nerve conduction velocity0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0000762HP:0000762Decreased nerve conduction velocity0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K108
HP:0000762HP:0000762Decreased nerve conduction velocity0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0000762HP:0000762Decreased nerve conduction velocity0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A108
HP:0000762HP:0000762Decreased nerve conduction velocity0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0000762HP:0000762Decreased nerve conduction velocity0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0000762HP:0000762Decreased nerve conduction velocity0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0000762HP:0000762Decreased nerve conduction velocity0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0000762HP:0000762Decreased nerve conduction velocity0HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type11
HP:0000762HP:0000762Decreased nerve conduction velocity0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000762HP:0000762Decreased nerve conduction velocity0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000762HP:0000762Decreased nerve conduction velocity0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F47
HP:0000762HP:0000762Decreased nerve conduction velocity0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0000762HP:0000762Decreased nerve conduction velocity0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0000762HP:0000762Decreased nerve conduction velocity0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K1
HP:0000762HP:0000762Decreased nerve conduction velocity0KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0000762HP:0000762Decreased nerve conduction velocity0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1202
HP:0000762HP:0000762Decreased nerve conduction velocity0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0000762HP:0000762Decreased nerve conduction velocity0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy1
HP:0000762HP:0000762Decreased nerve conduction velocity0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0000762HP:0000762Decreased nerve conduction velocity0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0000762HP:0000762Decreased nerve conduction velocity0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1645
HP:0000762HP:0000762Decreased nerve conduction velocity0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P102
HP:0000762HP:0000762Decreased nerve conduction velocity0LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasiaHP:0040282 - Frequent12
HP:0000762HP:0000762Decreased nerve conduction velocity0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0000762HP:0000762Decreased nerve conduction velocity0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome.239
HP:0000762HP:0000762Decreased nerve conduction velocity0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0000762HP:0000762Decreased nerve conduction velocity0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040284 - Very rare80
HP:0000762HP:0000762Decreased nerve conduction velocity0MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B243
HP:0000762HP:0000762Decreased nerve conduction velocity0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0000762HP:0000762Decreased nerve conduction velocity0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A203
HP:0000762HP:0000762Decreased nerve conduction velocity0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0000762HP:0000762Decreased nerve conduction velocity0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0000762HP:0000762Decreased nerve conduction velocity0MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1BHP:0040282 - Frequent134
HP:0000762HP:0000762Decreased nerve conduction velocity0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B134
HP:0000762HP:0000762Decreased nerve conduction velocity0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0000762HP:0000762Decreased nerve conduction velocity0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0000762HP:0000762Decreased nerve conduction velocity0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0000762HP:0000762Decreased nerve conduction velocity0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0000762HP:0000762Decreased nerve conduction velocity0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B188
HP:0000762HP:0000762Decreased nerve conduction velocity0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0000762HP:0000762Decreased nerve conduction velocity0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040282 - Frequent227
HP:0000762HP:0000762Decreased nerve conduction velocity0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 148
HP:0000762HP:0000762Decreased nerve conduction velocity0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0000762HP:0000762Decreased nerve conduction velocity0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D.82
HP:0000762HP:0000762Decreased nerve conduction velocity0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040284 - Very rare118
HP:0000762HP:0000762Decreased nerve conduction velocity0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040281 - Very frequent118
HP:0000762HP:0000762Decreased nerve conduction velocity0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0000762HP:0000762Decreased nerve conduction velocity0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F118
HP:0000762HP:0000762Decreased nerve conduction velocity0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040282 - Frequent43
HP:0000762HP:0000762Decreased nerve conduction velocity0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0000762HP:0000762Decreased nerve conduction velocity0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000762HP:0000762Decreased nerve conduction velocity0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0000762HP:0000762Decreased nerve conduction velocity0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040281 - Very frequent4
HP:0000762HP:0000762Decreased nerve conduction velocity0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0000762HP:0000762Decreased nerve conduction velocity0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A133
HP:0000762HP:0000762Decreased nerve conduction velocity0PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C186
HP:0000762HP:0000762Decreased nerve conduction velocity0PLP1 CL E G H53549086ORPHA:280234Null syndromeHP:0040282 - Frequent60
HP:0000762HP:0000762Decreased nerve conduction velocity0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness79
HP:0000762HP:0000762Decreased nerve conduction velocity0PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1A79
HP:0000762HP:0000762Decreased nerve conduction velocity0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040281 - Very frequent79
HP:0000762HP:0000762Decreased nerve conduction velocity0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A79
HP:0000762HP:0000762Decreased nerve conduction velocity0PMP22 CL E G H53769118ORPHA:640Hereditary neuropathy with liability to pressure palsies79
HP:0000762HP:0000762Decreased nerve conduction velocity0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0000762HP:0000762Decreased nerve conduction velocity0PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies79
HP:0000762HP:0000762Decreased nerve conduction velocity0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0000762HP:0000762Decreased nerve conduction velocity0PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia79
HP:0000762HP:0000762Decreased nerve conduction velocity0PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2244
HP:0000762HP:0000762Decreased nerve conduction velocity0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040283 - Occasional60
HP:0000762HP:0000762Decreased nerve conduction velocity0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0000762HP:0000762Decreased nerve conduction velocity0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy464
HP:0000762HP:0000762Decreased nerve conduction velocity0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophy49
HP:0000762HP:0000762Decreased nerve conduction velocity0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0000762HP:0000762Decreased nerve conduction velocity0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0000762HP:0000762Decreased nerve conduction velocity0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent81
HP:0000762HP:0000762Decreased nerve conduction velocity0PSAP CL E G H56609498OMIM:249900Metachromatic leukodystrophy due to saposin B deficiency.81
HP:0000762HP:0000762Decreased nerve conduction velocity0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0000762HP:0000762Decreased nerve conduction velocity0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0000762HP:0000762Decreased nerve conduction velocity0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0000762HP:0000762Decreased nerve conduction velocity0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0000762HP:0000762Decreased nerve conduction velocity0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0000762HP:0000762Decreased nerve conduction velocity0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040283 - Occasional150
HP:0000762HP:0000762Decreased nerve conduction velocity0REEP1 CL E G H6505525786OMIM:614751Neuronopathy, distal hereditary motor, type VB87
HP:0000762HP:0000762Decreased nerve conduction velocity0RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.54
HP:0000762HP:0000762Decreased nerve conduction velocity0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy125
HP:0000762HP:0000762Decreased nerve conduction velocity0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0000762HP:0000762Decreased nerve conduction velocity0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome.4
HP:0000762HP:0000762Decreased nerve conduction velocity0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B3.16
HP:0000762HP:0000762Decreased nerve conduction velocity0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2180
HP:0000762HP:0000762Decreased nerve conduction velocity0SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.318
HP:0000762HP:0000762Decreased nerve conduction velocity0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0000762HP:0000762Decreased nerve conduction velocity0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0000762HP:0000762Decreased nerve conduction velocity0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0000762HP:0000762Decreased nerve conduction velocity0SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 26
HP:0000762HP:0000762Decreased nerve conduction velocity0SLC12A6 CL E G H999010914OMIM:620068163
HP:0000762HP:0000762Decreased nerve conduction velocity0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0000762HP:0000762Decreased nerve conduction velocity0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0000762HP:0000762Decreased nerve conduction velocity0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0000762HP:0000762Decreased nerve conduction velocity0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0000762HP:0000762Decreased nerve conduction velocity0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0000762HP:0000762Decreased nerve conduction velocity0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0000762HP:0000762Decreased nerve conduction velocity0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0000762HP:0000762Decreased nerve conduction velocity0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000762HP:0000762Decreased nerve conduction velocity0TPI1 CL E G H716712009ORPHA:868Triose phosphate-isomerase deficiencyHP:0040283 - Occasional28
HP:0000762HP:0000762Decreased nerve conduction velocity0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy138
HP:0000762HP:0000762Decreased nerve conduction velocity0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0000762HP:0000762Decreased nerve conduction velocity0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040283 - Occasional63
HP:0000762HP:0000762Decreased nerve conduction velocity0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0000762HP:0000762Decreased nerve conduction velocity0WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.199
HP:0000762HP:0000762Decreased nerve conduction velocity0YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C
HP:0000762HP:0003431Decreased motor nerve conduction velocity1AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N.
HP:0000762HP:0003431Decreased motor nerve conduction velocity1ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0000762HP:0003431Decreased motor nerve conduction velocity1ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0000762HP:0003431Decreased motor nerve conduction velocity1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0000762HP:0003431Decreased motor nerve conduction velocity1CCT5 CL E G H229481618ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegiaHP:0040282 - Frequent56
HP:0000762HP:0003431Decreased motor nerve conduction velocity1CCT5 CL E G H229481618OMIM:256840Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive.56
HP:0000762HP:0003431Decreased motor nerve conduction velocity1CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0000762HP:0003431Decreased motor nerve conduction velocity1DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant.2
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0000762HP:0003431Decreased motor nerve conduction velocity1DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0000762HP:0003431Decreased motor nerve conduction velocity1EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D.58
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0000762HP:0003431Decreased motor nerve conduction velocity1EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0000762HP:0003431Decreased motor nerve conduction velocity1EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive.58
HP:0000762HP:0003431Decreased motor nerve conduction velocity1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0000762HP:0003431Decreased motor nerve conduction velocity1FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0000762HP:0003431Decreased motor nerve conduction velocity1FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J.111
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0000762HP:0003431Decreased motor nerve conduction velocity1FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040283 - Occasional18
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1FXN CL E G H23953951OMIM:229300Friedreich ataxia 118
HP:0000762HP:0012078Motor conduction block1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0000762HP:0003431Decreased motor nerve conduction velocity1GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.108
HP:0000762HP:0003431Decreased motor nerve conduction velocity1GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive.108
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A108
HP:0000762HP:0003431Decreased motor nerve conduction velocity1GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A.108
HP:0000762HP:0003431Decreased motor nerve conduction velocity1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0000762HP:0003431Decreased motor nerve conduction velocity1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0000762HP:0003431Decreased motor nerve conduction velocity1HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040281 - Very frequent11
HP:0000762HP:0012078Motor conduction block1HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040281 - Very frequent11
HP:0000762HP:0003431Decreased motor nerve conduction velocity1HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type.11
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000762HP:0003431Decreased motor nerve conduction velocity1HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000762HP:0003431Decreased motor nerve conduction velocity1HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0000762HP:0003431Decreased motor nerve conduction velocity1HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0000762HP:0003431Decreased motor nerve conduction velocity1JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.1
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1KIF1A CL E G H547888OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.276
HP:0000762HP:0003431Decreased motor nerve conduction velocity1KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1.202
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0000762HP:0003431Decreased motor nerve conduction velocity1LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0000762HP:0003431Decreased motor nerve conduction velocity1LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C.74
HP:0000762HP:0003431Decreased motor nerve conduction velocity1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0000762HP:0003431Decreased motor nerve conduction velocity1LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1.645
HP:0000762HP:0003431Decreased motor nerve conduction velocity1LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P.102
HP:0000762HP:0003431Decreased motor nerve conduction velocity1MED25 CL E G H8185728845OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.43
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A203
HP:0000762HP:0003431Decreased motor nerve conduction velocity1MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A203
HP:0000762HP:0003431Decreased motor nerve conduction velocity1MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0000762HP:0003431Decreased motor nerve conduction velocity1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0000762HP:0003431Decreased motor nerve conduction velocity1MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0000762HP:0003431Decreased motor nerve conduction velocity1MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0000762HP:0003431Decreased motor nerve conduction velocity1MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0000762HP:0003431Decreased motor nerve conduction velocity1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0000762HP:0003431Decreased motor nerve conduction velocity1MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0000762HP:0003431Decreased motor nerve conduction velocity1MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0000762HP:0003431Decreased motor nerve conduction velocity1NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000762HP:0003431Decreased motor nerve conduction velocity1NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040281 - Very frequent82
HP:0000762HP:0003431Decreased motor nerve conduction velocity1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E.118
HP:0000762HP:0003431Decreased motor nerve conduction velocity1NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F.118
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000762HP:0003431Decreased motor nerve conduction velocity1NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C.186
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness.79
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1AHP:0040282 - Frequent79
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1PMP22 CL E G H53769118ORPHA:101081Charcot-Marie-Tooth disease type 1AHP:0040282 - Frequent79
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PMP22 CL E G H53769118ORPHA:640Hereditary neuropathy with liability to pressure palsiesHP:0040281 - Very frequent79
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas.79
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PMP22 CL E G H53769118OMIM:162500Neuropathy, hereditary, with liability to pressure palsies.79
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PMP22 CL E G H53769118OMIM:180800Roussy-Levy hereditary areflexic dystasia.79
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PNKP CL E G H112849154OMIM:605589Charcot-Marie-Tooth disease, axonal, type 2B2.244
HP:0000762HP:0003431Decreased motor nerve conduction velocity1POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040281 - Very frequent49
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F.170
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas.170
HP:0000762HP:0003431Decreased motor nerve conduction velocity1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040283 - Occasional6
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040283 - Occasional6
HP:0000762HP:0003431Decreased motor nerve conduction velocity1RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B.50
HP:0000762HP:0003431Decreased motor nerve conduction velocity1REEP1 CL E G H6505525786OMIM:614751Neuronopathy, distal hereditary motor, type VB.87
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1RETREG1 CL E G H5446325964OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.54
HP:0000762HP:0003431Decreased motor nerve conduction velocity1RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0000762HP:0003431Decreased motor nerve conduction velocity1SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0000762HP:0003431Decreased motor nerve conduction velocity1SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1SCN9A CL E G H633510597OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.318
HP:0000762HP:0003431Decreased motor nerve conduction velocity1SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1.162
HP:0000762HP:0003431Decreased motor nerve conduction velocity1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0000762HP:0003431Decreased motor nerve conduction velocity1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0000762HP:0003431Decreased motor nerve conduction velocity1SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 2.6
HP:0000762HP:0003431Decreased motor nerve conduction velocity1SLC12A6 CL E G H999010914OMIM:620068163
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000762HP:0003431Decreased motor nerve conduction velocity1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0000762HP:0003431Decreased motor nerve conduction velocity1SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA.54
HP:0000762HP:0003431Decreased motor nerve conduction velocity1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0000762HP:0003431Decreased motor nerve conduction velocity1SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0000762HP:0003431Decreased motor nerve conduction velocity1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0000762HP:0003431Decreased motor nerve conduction velocity1TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0000762HP:0003431Decreased motor nerve conduction velocity1UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1WNK1 CL E G H6512514540OMIM:201300Neuropathy, hereditary sensory and autonomic, type II.199
HP:0000762HP:0003448Decreased sensory nerve conduction velocity1YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C
HP:0000762HP:0003431Decreased motor nerve conduction velocity1YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C


Genes (106) :AARS1 ABHD12 AIFM1 ARHGEF10 ARSA ATP11A ATP7B ATXN1 ATXN10 BSCL2 CCT5 CTDP1 CYP27A1 DCAF8 DEGS1 DHX16 DNAJC3 DNM2 EGR2 ERCC3 ERCC6 ERCC8 FBLN5 FBN1 FBXO38 FGD4 FIG4 FLVCR1 FXN GALC GDAP1 GFM2 GJB1 GJC2 HK1 HPDL HSD17B4 HSPB1 HYCC1 IGHMBP2 JPH1 KIF1A KIF1B LAMA2 LIG3 LITAF LMNA LRSAM1 LTBP3 LYST MATR3 MED25 MFF MFN2 MORC2 MPZ MTMR2 MTRFR MYH14 NALCN NDRG1 NEFL NEU1 NFASC NGLY1 NOTCH2NLC PDK3 PEX6 PLA2G6 PLEKHG5 PLP1 PMP22 PNKP PNPT1 POLG PRPS1 PRX PSAP PTRH2 RAB7A RAI1 REEP1 RETREG1 RRM2B SACS SAMD9L SBF1 SBF2 SCN9A SETX SH3TC2 SIGMAR1 SLC12A6 SLC25A15 SORD SOX10 SPTLC1 SPTLC2 SUCLA2 TBC1D20 TPI1 TYMP UQCRC1 VCP WNK1 YARS1

Diseases (132) :OMIM:613287 OMIM:612674 ORPHA:101078 OMIM:608236 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:619851 OMIM:277900 OMIM:164400 OMIM:603516 OMIM:270685 ORPHA:139578 OMIM:256840 OMIM:604168 ORPHA:909 OMIM:610100 OMIM:618404 OMIM:618733 OMIM:616192 OMIM:615368 OMIM:607678 OMIM:145900 OMIM:605253 OMIM:610651 OMIM:133540 OMIM:216400 OMIM:608895 ORPHA:969 OMIM:615575 OMIM:609311 OMIM:611228 OMIM:609033 ORPHA:95 OMIM:229300 ORPHA:206436 OMIM:245200 ORPHA:206443 ORPHA:99944 ORPHA:99948 OMIM:607831 OMIM:607706 OMIM:214400 ORPHA:565624 OMIM:302800 OMIM:608804 ORPHA:99953 OMIM:605285 OMIM:619026 OMIM:261515 OMIM:606595 OMIM:610532 OMIM:604320 OMIM:201300 OMIM:118210 OMIM:618138 ORPHA:298 OMIM:601098 ORPHA:98856 OMIM:605588 OMIM:614436 ORPHA:167 OMIM:214500 OMIM:606070 ORPHA:600 OMIM:605589 ORPHA:485421 OMIM:609260 OMIM:601152 OMIM:616688 ORPHA:101082 OMIM:118200 OMIM:618184 ORPHA:3115 OMIM:180800 OMIM:601382 ORPHA:320375 ORPHA:397744 OMIM:615419 ORPHA:99950 OMIM:601455 ORPHA:99939 ORPHA:101085 OMIM:607684 OMIM:607734 ORPHA:812 OMIM:618356 OMIM:615273 OMIM:603472 ORPHA:352675 OMIM:614863 OMIM:256600 OMIM:615376 ORPHA:280234 OMIM:118300 ORPHA:101081 ORPHA:90658 OMIM:118220 ORPHA:640 OMIM:162500 ORPHA:319514 OMIM:614932 ORPHA:1187 OMIM:614895 OMIM:249900 ORPHA:456312 OMIM:600882 ORPHA:477817 OMIM:614751 OMIM:270550 OMIM:159550 OMIM:615284 OMIM:604563 OMIM:606002 ORPHA:99949 OMIM:601596 OMIM:605726 OMIM:620068 OMIM:218000 OMIM:238970 OMIM:618912 OMIM:609136 OMIM:162400 OMIM:613640 ORPHA:1933 OMIM:615663 ORPHA:868 OMIM:619279 ORPHA:329478 ORPHA:435387 OMIM:608323
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.