Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | | | | 50 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:101078 | X-linked Charcot-Marie-Tooth disease type 4 | | | | 60 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ARHGEF10 CL E G H | 9639 | 14103 | OMIM:608236 | Slowed nerve conduction velocity, autosomal dominant | | | | 12 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ARSA CL E G H | 410 | 713 | OMIM:250100 | Metachromatic leukodystrophy | | | | 253 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 253 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 253 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040282 - Frequent | | | 19 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | | | | 105 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 105 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | | | | 56 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | | | | 2 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:615368 | Lethal congenital contracture syndrome 5 | | | | 167 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:607678 | Charcot-Marie-Tooth disease, demyelinating, type 1D | | | | 58 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:605253 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | | | | 58 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | | | | 54 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | | | | 63 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | | | | 1361 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | | | | 111 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | | | | 18 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | | | | 160 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | | | | 160 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99944 | Autosomal dominant Charcot-Marie-Tooth disease type 2K | | | | 108 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 108 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | | | | 108 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:101075 | X-linked Charcot-Marie-Tooth disease type 1 | HP:0040281 - Very frequent | | | 107 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | | | | 11 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | | | | 47 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040283 - Occasional | | | 115 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93476 | Hurler-Scheie syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | | | | 209 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 1 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 276 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | | | | 202 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 1 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | LITAF CL E G H | 9516 | 16841 | OMIM:601098 | Charcot-Marie-Tooth disease, demyelinating, type 1C | | | | 74 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | | | | 645 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | | | | 102 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | | | | 12 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | | | | 80 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | | | | 80 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MED25 CL E G H | 81857 | 28845 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | | | | 43 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | | | | 17 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:101082 | Charcot-Marie-Tooth disease type 1B | | | | 134 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | | | | 134 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | | | | 134 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 134 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | | | | 88 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | | | | 227 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | | | | 48 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | | | | 82 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | | | | 82 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | | 118 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | | | | 118 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | | | | 43 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | | | | 4 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | | | | 98 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | | | | 133 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:615376 | Charcot-Marie-Tooth disease, recessive intermediate C | | | | 186 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280234 | Null syndrome | | | | 60 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | | | | 79 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | | | | 79 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | | | | 79 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:640 | Hereditary neuropathy with liability to pressure palsies | | | | 79 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:162500 | Neuropathy, hereditary, with liability to pressure palsies | | | | 79 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 79 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | | | | 244 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | | | | 60 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:614932 | Combined oxidative phosphorylation deficiency 13 | | | | 60 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 464 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | | | | 49 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:99014 | X-linked Charcot-Marie-Tooth disease type 5 | HP:0040281 - Very frequent | | | 49 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | | | | 81 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 81 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 81 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | | | | 150 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 87 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:614751 | Neuronopathy, distal hereditary motor, type VB | | | | 87 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 54 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 125 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | | | | 16 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | | | | 180 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 318 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | | | | 6 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | | | | 163 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | | | | 88 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | SUCLA2 CL E G H | 8803 | 11448 | ORPHA:1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | | | | 66 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | TPI1 CL E G H | 7167 | 12009 | ORPHA:868 | Triose phosphate-isomerase deficiency | | | | 28 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 138 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 199 | | |
HP:0040129 | HP:0040129 | Abnormal nerve conduction velocity | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | | | | | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | . | | | 50 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:101078 | X-linked Charcot-Marie-Tooth disease type 4 | HP:0040281 - Very frequent | | | 60 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ARHGEF10 CL E G H | 9639 | 14103 | OMIM:608236 | Slowed nerve conduction velocity, autosomal dominant | . | | | 12 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ARSA CL E G H | 410 | 713 | OMIM:250100 | Metachromatic leukodystrophy | . | | | 253 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 253 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 253 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 253 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | . | | | 9 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | HP:0040283 - Occasional | | | 105 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040284 - Very rare | | | 105 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | | | | 56 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | | | | 56 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | | | | 56 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040283 - Occasional | | | 11 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040282 - Frequent | | | 114 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | | | | 2 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | | | | 2 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | HP:0040284 - Very rare | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:615368 | Lethal congenital contracture syndrome 5 | . | | | 167 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:607678 | Charcot-Marie-Tooth disease, demyelinating, type 1D | | | | 58 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:607678 | Charcot-Marie-Tooth disease, demyelinating, type 1D | | | | 58 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:605253 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | | | | 58 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:605253 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | | | | 58 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | . | | | 54 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | FBLN5 CL E G H | 10516 | 3602 | OMIM:608895 | Macular degeneration, age-related, 3 | HP:0040283 - Occasional | | | 63 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | HP:0040282 - Frequent | | | 1361 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | | | | 18 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | | | | 18 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040284 - Very rare | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99944 | Autosomal dominant Charcot-Marie-Tooth disease type 2K | HP:0040282 - Frequent | | | 108 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 108 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 108 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | | | | 108 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | | | | 108 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | | | | 108 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040283 - Occasional | | | 43 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | | | | 11 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | | | | 11 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | | | | 47 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | | | | 47 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | | | | | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 1 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | | | | 1 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 276 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | | | | 202 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | | | | 202 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 1 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 1 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 1 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | LITAF CL E G H | 9516 | 16841 | OMIM:601098 | Charcot-Marie-Tooth disease, demyelinating, type 1C | | | | 74 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | LITAF CL E G H | 9516 | 16841 | OMIM:601098 | Charcot-Marie-Tooth disease, demyelinating, type 1C | | | | 74 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | | | | 645 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | | | | 645 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | | | | 102 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | | | | 102 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | HP:0040282 - Frequent | | | 12 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | . | | | 239 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | . | | | 80 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | HP:0040284 - Very rare | | | 80 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | MED25 CL E G H | 81857 | 28845 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | | | | 43 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MED25 CL E G H | 81857 | 28845 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | | | | 43 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040282 - Frequent | | | 17 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040282 - Frequent | | | 8 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:101082 | Charcot-Marie-Tooth disease type 1B | HP:0040282 - Frequent | | | 134 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | | | | 134 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | | | | 134 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | | | | 134 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | | | | 134 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 134 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 134 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | | | | 88 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | | | | 88 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | | | | | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | HP:0040282 - Frequent | | | 227 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | | | | 48 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | | | | 48 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | | | | 82 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | | | | 82 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | NDRG1 CL E G H | 10397 | 7679 | OMIM:601455 | Charcot-Marie-Tooth disease, type 4D | . | | | 82 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040284 - Very rare | | | 118 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040281 - Very frequent | | | 118 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | | | | 118 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | | | | 118 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040282 - Frequent | | | 43 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | . | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | HP:0040281 - Very frequent | | | 4 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | | | | 133 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:615376 | Charcot-Marie-Tooth disease, recessive intermediate C | | | | 186 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:615376 | Charcot-Marie-Tooth disease, recessive intermediate C | | | | 186 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280234 | Null syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | | | | 79 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | | | | 79 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | | | | 79 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | | | | 79 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | | | | 79 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040281 - Very frequent | | | 79 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | | | | 79 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | | | | 79 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:640 | Hereditary neuropathy with liability to pressure palsies | | | | 79 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:640 | Hereditary neuropathy with liability to pressure palsies | | | | 79 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:162500 | Neuropathy, hereditary, with liability to pressure palsies | | | | 79 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:162500 | Neuropathy, hereditary, with liability to pressure palsies | | | | 79 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 79 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 79 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PNKP CL E G H | 11284 | 9154 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | | | | 244 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PNKP CL E G H | 11284 | 9154 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | | | | 244 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | HP:0040283 - Occasional | | | 60 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PNPT1 CL E G H | 87178 | 23166 | OMIM:614932 | Combined oxidative phosphorylation deficiency 13 | | | | 60 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 464 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 464 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 464 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | | | | 49 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | | | | 49 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040282 - Frequent | | | 81 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:249900 | Metachromatic leukodystrophy due to saposin B deficiency | . | | | 81 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 81 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 81 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 81 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040284 - Very rare | | | 87 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:614751 | Neuronopathy, distal hereditary motor, type VB | | | | 87 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:614751 | Neuronopathy, distal hereditary motor, type VB | | | | 87 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 54 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 125 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 125 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 125 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | . | | | 4 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | . | | | 16 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | | | | 180 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | | | | 180 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 318 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040281 - Very frequent | | | 493 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | | | | 6 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | | | | 6 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | | | | 163 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | | | | 163 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | | | | 163 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | SUCLA2 CL E G H | 8803 | 11448 | ORPHA:1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | HP:0040281 - Very frequent | | | 66 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | TPI1 CL E G H | 7167 | 12009 | ORPHA:868 | Triose phosphate-isomerase deficiency | HP:0040283 - Occasional | | | 28 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 138 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 138 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 138 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040283 - Occasional | | | 63 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 199 | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | | | | 199 | | |
HP:0040129 | HP:0040131 | Abnormal motor nerve conduction velocity | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |
HP:0040129 | HP:0000762 | Decreased nerve conduction velocity | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |
HP:0040129 | HP:0040132 | Abnormal sensory nerve conduction velocity | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |
HP:0040129 | HP:0033580 | Compound motor action potential abnormality | 2 | CL E G H | | | | | | | | | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | . | | | | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | CCT5 CL E G H | 22948 | 1618 | ORPHA:139578 | Mutilating hereditary sensory neuropathy with spastic paraplegia | HP:0040282 - Frequent | | | 56 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | CCT5 CL E G H | 22948 | 1618 | OMIM:256840 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive | . | | | 56 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | DCAF8 CL E G H | 50717 | 24891 | OMIM:610100 | Giant axonal neuropathy, autosomal dominant | . | | | 2 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | | | | 3 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | EGR2 CL E G H | 1959 | 3239 | OMIM:607678 | Charcot-Marie-Tooth disease, demyelinating, type 1D | . | | | 58 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 58 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | EGR2 CL E G H | 1959 | 3239 | OMIM:605253 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | . | | | 58 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | . | | | 111 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040283 - Occasional | | | 18 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | FXN CL E G H | 2395 | 3951 | OMIM:229300 | Friedreich ataxia 1 | | | | 18 | | |
HP:0040129 | HP:0012078 | Motor conduction block | 2 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 108 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | . | | | 108 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | | | | 108 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | . | | | 108 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040281 - Very frequent | | | 11 | | |
HP:0040129 | HP:0012078 | Motor conduction block | 2 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040281 - Very frequent | | | 11 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | . | | | 11 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | . | | | 47 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | . | | | | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 1 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | KIF1A CL E G H | 547 | 888 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 276 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | . | | | 202 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | LITAF CL E G H | 9516 | 16841 | OMIM:601098 | Charcot-Marie-Tooth disease, demyelinating, type 1C | . | | | 74 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | . | | | 645 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | . | | | 102 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | MED25 CL E G H | 81857 | 28845 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | . | | | 43 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | | | | 203 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | . | | | 134 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 134 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | . | | | 134 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 134 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | MTMR2 CL E G H | 8898 | 7450 | OMIM:601382 | Charcot-Marie-Tooth disease, type 4B1 | . | | | 88 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | . | | | 48 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | HP:0040281 - Very frequent | | | 82 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | . | | | 118 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | NEFL CL E G H | 4747 | 7739 | OMIM:607734 | Charcot-Marie-Tooth disease, demyelinating, type 1F | . | | | 118 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:603472 | NEURONAL INTRANUCLEAR INCLUSION DISEASE | | | | | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:615376 | Charcot-Marie-Tooth disease, recessive intermediate C | . | | | 186 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | . | | | 79 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040282 - Frequent | | | 79 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040282 - Frequent | | | 79 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:640 | Hereditary neuropathy with liability to pressure palsies | HP:0040281 - Very frequent | | | 79 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 79 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PMP22 CL E G H | 5376 | 9118 | OMIM:162500 | Neuropathy, hereditary, with liability to pressure palsies | . | | | 79 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 79 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PNKP CL E G H | 11284 | 9154 | OMIM:605589 | Charcot-Marie-Tooth disease, axonal, type 2B2 | . | | | 244 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PRPS1 CL E G H | 5631 | 9462 | ORPHA:1187 | Lethal ataxia with deafness and optic atrophy | HP:0040281 - Very frequent | | | 49 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | . | | | 170 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 170 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040283 - Occasional | | | 6 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040283 - Occasional | | | 6 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | . | | | 50 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | REEP1 CL E G H | 65055 | 25786 | OMIM:614751 | Neuronopathy, distal hereditary motor, type VB | . | | | 87 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | RETREG1 CL E G H | 54463 | 25964 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 54 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | . | | | 180 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | SCN9A CL E G H | 6335 | 10597 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 318 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | . | | | 6 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | . | | | 54 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | WNK1 CL E G H | 65125 | 14540 | OMIM:201300 | Neuropathy, hereditary sensory and autonomic, type II | . | | | 199 | | |
HP:0040129 | HP:0003448 | Decreased sensory nerve conduction velocity | 2 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |
HP:0040129 | HP:0003431 | Decreased motor nerve conduction velocity | 2 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |