Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal nervous system physiology (HP:0012638)

Parent Node:
Abnormal nervous system electrophysiology (HP:0001311)

..Starting node
..Abnormality of peripheral nervous system electrophysiology (HP:0030177)

Term ID:

30177

Name:

Abnormality of peripheral nervous system electrophysiology

Synonym:

Abnormal nerve conduction study

Definition:

An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.

Comments:

Reference:

HP:0030177

Genes and Diseases:

Child Nodes:

........

Abnormality of peripheral nerve conduction (HP:0003134)

................... HP:0030179 Abnormal peripheral action potential amplitude
................... HP:0040129 Abnormal nerve conduction velocity

........

Abnormal auditory evoked potentials (HP:0006958)

................... HP:0004463 Absent brainstem auditory responses
................... HP:0004466 Prolonged brainstem auditory evoked potentials

........

Abnormality of somatosensory evoked potentials (HP:0007377)

................... HP:0001312 Giant somatosensory evoked potentials
................... HP:0001340 Enhancement of the C-reflex
................... HP:0007104 Prolonged somatosensory evoked potentials
................... HP:0100290 Abnormality of peripheral somatosensory evoked potentials
................... HP:0100291 Abnormality of central somatosensory evoked potentials

Sister Nodes:

Abnormality of central nervous system electrophysiology (HP:0030178)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent	135
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4		60
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant		12
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1		19
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5		105
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant		2
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1		8
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome		55
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D		58
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive		58
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease		83
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B		54
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia		1361
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J		111
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease		160
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K		108
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		108
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1		107
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44		37
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type		11
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F		47
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome		115
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome		115
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		1
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1		645
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia		12
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		43
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B		134
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B		134
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1		88
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D		82
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E		118
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1		43
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease		77
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		214
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9		383
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B		98
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness		79
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A		79
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies		79
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		244
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5		49
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5		87
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB		87
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104		1
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2		180
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2		6
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome		94
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21		28
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria		66
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency		80
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp		271
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		271
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57		18
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type		18
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency		28
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0030177	HP:0030177	Abnormality of peripheral nervous system electrophysiology	0	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4		1
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4		60
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant		12
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1		19
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5		105
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy	HP:0040282 - Frequent
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy	HP:0040282 - Frequent
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant		2
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	DIAPH3 CL E G H	81624	15480	OMIM:609129	Auditory neuropathy, autosomal dominant, 1	.	8
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	EDNRB CL E G H	1910	3180	OMIM:600501	Abcd syndrome	.	55
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D		58
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive		58
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease		83
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B		54
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1		158
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1		199
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1		55
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia		1361
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J		111
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease		160
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease		160
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K		108
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		108
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1		107
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent	37
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent	37
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type		11
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F		47
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome		115
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome		115
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		1
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1		645
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia		12
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		43
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG		37
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B		134
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B		134
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.	88
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1		88
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D		82
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E		118
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1		43
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease		77
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040281 - Very frequent	97
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.	214
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9		383
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B		98
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040281 - Very frequent	60
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent	60
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness		79
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A		79
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies		79
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		244
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent	49
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5		49
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5		87
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB		87
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104		1
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2		180
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2		6
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040282 - Frequent	94
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent	28
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria		66
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent	80
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp		271
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome		271
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57	HP:0040280 - Obligate	18
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type		18
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0030177	HP:0006958	Abnormal auditory evoked potentials	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency		28
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0030177	HP:0003134	Abnormality of peripheral nerve conduction	1	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0030177	HP:0007377	Abnormality of somatosensory evoked potentials	1	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4		1
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0030177	HP:0100291	Abnormality of central somatosensory evoked potentials	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4		60
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant		12
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5		105
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0030177	HP:0100291	Abnormality of central somatosensory evoked potentials	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant		2
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0030177	HP:0040129	Abnormal 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:0030177	HP:0040129	Abnormal nerve conduction velocity	2	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D		58
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive		58
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0030177	HP:0001312	Giant somatosensory evoked potentials	2	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent	83
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B		54
HP:0030177	HP:0004463	Absent brainstem auditory responses	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	158
HP:0030177	HP:0004463	Absent brainstem auditory responses	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	199
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B		199
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0030177	HP:0004463	Absent brainstem auditory responses	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040281 - Very frequent	55
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia		1361
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J		111
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0030177	HP:0004466	Prolonged brainstem auditory evoked potentials	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional	160
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0030177	HP:0004466	Prolonged brainstem auditory evoked potentials	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	160
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0030177	HP:0004466	Prolonged brainstem auditory evoked potentials	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease		160
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K		108
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		108
HP:0030177	HP:0040129	Abnormal 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:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040281 - Very frequent	107
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type		11
HP:0030177	HP:0040129	Abnormal 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:0030177	HP:0040129	Abnormal nerve conduction velocity	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F		47
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040283 - Occasional	115
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040282 - Frequent	115
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040281 - Very frequent	115
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		1
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1		645
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia		12
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0030177	HP:0001312	Giant somatosensory evoked potentials	2	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0030177	HP:0001340	Enhancement of the C-reflex	2	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		43
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0030177	HP:0004463	Absent brainstem auditory responses	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030177	HP:0100290	Abnormality of peripheral somatosensory evoked potentials	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent	8
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B		134
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B		134
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1		88
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D		82
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D		82
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E		118
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0030177	HP:0004463	Absent brainstem auditory responses	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1		43
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0030177	HP:0001312	Giant somatosensory evoked potentials	2	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent	77
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0030177	HP:0004463	Absent brainstem auditory responses	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent	214
HP:0030177	HP:0004463	Absent brainstem auditory responses	2	OTOF CL E G H	9381	8515	OMIM:601071	Deafness, autosomal recessive 9	.	383
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B		98
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome		60
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness		79
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A		79
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies		79
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		244
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040281 - Very frequent	49
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0030177	HP:0004466	Prolonged brainstem auditory evoked potentials	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	81
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5		87
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB		87
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0030177	HP:0004463	Absent brainstem auditory responses	2	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104		1
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0030177	HP:0001312	Giant somatosensory evoked potentials	2	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0030177	HP:0001340	Enhancement of the C-reflex	2	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2		180
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0030177	HP:0001312	Giant somatosensory evoked potentials	2	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0030177	HP:0004466	Prolonged brainstem auditory evoked potentials	2	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2		6
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome		88
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0030177	HP:0004463	Absent brainstem auditory responses	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0030177	HP:0004463	Absent brainstem auditory responses	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0030177	HP:0001340	Enhancement of the C-reflex	2	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	.
HP:0030177	HP:0001312	Giant somatosensory evoked potentials	2	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	.
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria		66
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0030177	HP:0007104	Prolonged somatosensory evoked potentials	2	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	.	271
HP:0030177	HP:0007104	Prolonged somatosensory evoked potentials	2	TBC1D24 CL E G H	57465	29203	ORPHA:163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	HP:0040282 - Frequent	271
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent	18
HP:0030177	HP:0004463	Absent brainstem auditory responses	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency		28
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0030177	HP:0100291	Abnormality of central somatosensory evoked potentials	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF		62
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0030177	HP:0030179	Abnormal peripheral action potential amplitude	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0030177	HP:0040129	Abnormal nerve conduction velocity	2	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0030177	HP:0001340	Enhancement of the C-reflex	2	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4	.	1
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040281 - Very frequent	60
HP:0030177	HP:0033383	Decreased compound muscle action potential amplitude	3	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ARHGEF10 CL E G H	9639	14103	OMIM:608236	Slowed nerve conduction velocity, autosomal dominant	.	12
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	253
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	253
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	253
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	71
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	5
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional	105
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040284 - Very rare	105
HP:0030177	HP:0033383	Decreased compound muscle action potential amplitude	3	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C		105
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0030177	HP:0033383	Decreased compound muscle action potential amplitude	3	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant		2
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant		2
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	HP:0040284 - Very rare
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0030177	HP:0033383	Decreased compound muscle action potential amplitude	3	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D		58
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D		58
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive		58
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive		58
HP:0030177	HP:0033383	Decreased compound muscle action potential amplitude	3	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3	HP:0040283 - Occasional	63
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent	1361
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J		111
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J		111
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional	111
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	160
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent	160
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040284 - Very rare
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	HP:0040282 - Frequent	108
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		108
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		108
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type		11
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type		11
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F		47
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F		47
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.	38
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.	209
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		1
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		1
HP:0030177	HP:0033383	Decreased compound muscle action potential amplitude	3	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		1
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1		645
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1		645
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040282 - Frequent	12
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.	239
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040284 - Very rare	80
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		43
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		43
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040282 - Frequent	134
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B		134
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B		134
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1		88
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1		88
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040281 - Very frequent	82
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D		82
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D		82
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040284 - Very rare	118
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040281 - Very frequent	118
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040282 - Frequent	43
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040281 - Very frequent	4
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.	98
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PLP1 CL E G H	5354	9086	ORPHA:280234	Null syndrome	HP:0040282 - Frequent	60
HP:0030177	HP:0033383	Decreased compound muscle action potential amplitude	3	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness		79
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness		79
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040281 - Very frequent	79
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A		79
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A		79
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies		79
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies		79
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		244
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		244
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional	60
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		464
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040282 - Frequent	81
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent	81
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent	81
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent	81
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0030177	HP:0033383	Decreased compound muscle action potential amplitude	3	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040284 - Very rare	87
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB		87
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB		87
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		125
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	.	16
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2		180
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2		180
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0030177	HP:0033383	Decreased compound muscle action potential amplitude	3	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile		162
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040281 - Very frequent	493
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2		6
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2		6
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.	61
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	54
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent	149
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent	66
HP:0030177	HP:0033383	Decreased compound muscle action potential amplitude	3	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0030177	HP:0025680	Compound muscle action potential amplitude facilitation	3	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic		4
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency	HP:0040283 - Occasional	28
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC		214
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy		138
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030177	HP:0033383	Decreased compound muscle action potential amplitude	3	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional	63
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent	63
HP:0030177	HP:0007078	Decreased amplitude of sensory action potentials	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0030177	HP:0000762	Decreased nerve conduction velocity	3	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0030177	HP:0040131	Abnormal motor nerve conduction velocity	3	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0030177	HP:0040132	Abnormal sensory nerve conduction velocity	3	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0030177	HP:0033580	Compound motor action potential abnormality	4	CL E G H
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040282 - Frequent	56
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.	2
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D	.	58
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	58
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.	58
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	.	111
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040283 - Occasional	18
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0030177	HP:0012078	Motor conduction block	4	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	108
HP:0030177	HP:0007230	Decreased distal sensory nerve action potential	4	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.	108
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0030177	HP:0007230	Decreased distal sensory nerve action potential	4	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent	11
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent	11
HP:0030177	HP:0012078	Motor conduction block	4	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent	11
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.	11
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.	47
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	1
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.	202
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.	74
HP:0030177	HP:0007230	Decreased distal sensory nerve action potential	4	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.	645
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.	102
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.	43
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0030177	HP:0007230	Decreased distal sensory nerve action potential	4	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0030177	HP:0007230	Decreased distal sensory nerve action potential	4	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.	134
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	134
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.	134
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	134
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.	88
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040281 - Very frequent	82
HP:0030177	HP:0007230	Decreased distal sensory nerve action potential	4	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.	118
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	.	186
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.	79
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040282 - Frequent	79
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040282 - Frequent	79
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.	79
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040281 - Very frequent	79
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	79
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies	.	79
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent	79
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.	244
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent	49
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.	170
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.	170
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional	6
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB	.	87
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0030177	HP:0007230	Decreased distal sensory nerve action potential	4	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0030177	HP:0007230	Decreased distal sensory nerve action potential	4	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.	180
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.	6
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.	54
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0030177	HP:0007230	Decreased distal sensory nerve action potential	4	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.	214
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	UQCRC1 CL E G H	7384	12585	OMIM:619279	PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0030177	HP:0003448	Decreased sensory nerve conduction velocity	4	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0030177	HP:0003431	Decreased motor nerve conduction velocity	4	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C

Genes (155) :AARS1 ABCD1 ABHD12 AIFM1 ALS2 ARHGEF10 ARHGEF2 ARSA ATL1 ATL3 ATP11A ATP7B ATXN1 ATXN10 BSCL2 CADM3 CCT5 CEP126 CHCHD10 CPLANE1 CTDP1 CYP27A1 DCAF8 DEGS1 DHH DHX16 DIAPH3 DNAJB6 DNAJC3 DNM2 EBP EDNRB EGR2 EMILIN1 EPM2A ERCC3 ERCC4 ERCC6 ERCC8 FBLN5 FBN1 FBXO38 FGD4 FIG4 FLVCR1 FXN GALC GARS1 GDAP1 GFM2 GJB1 GJC2 HK1 HPDL HSD17B4 HSPB1 HSPB8 HYCC1 IDUA IGHMBP2 JPH1 KARS1 KIF1A KIF1B LAMA2 LIG3 LITAF LMNA LMNB1 LRSAM1 LTBP3 LYST MARCHF6 MATR3 MED25 MFF MFN2 MOGS MORC2 MPV17 MPZ MTMR2 MTRFR MYH14 MYH3 NALCN NDRG1 NEFL NEU1 NFASC NGLY1 NHLRC1 NMNAT1 NOTCH2NLC NTRK1 OPA1 OTOF PDK3 PEX6 PLA2G6 PLEKHG5 PLP1 PMP2 PMP22 PNKP PNPT1 POLG PRPS1 PRX PSAP PTRH2 RAB7A RAI1 REEP1 RETREG1 RFC1 RIPOR2 RRM2B SACS SAMD12 SAMD9L SBF1 SBF2 SCN9A SEMA6B SETX SH3TC2 SIGMAR1 SLC12A6 SLC25A15 SNAP29 SORD SOX10 SPG21 SPTBN4 SPTLC1 SPTLC2 STARD7 SUCLA2 SUMF1 SYT2 TBC1D20 TBC1D24 TFG TIMM8A TPI1 TRPV4 TTPA TYMP UQCRC1 VCP VPS13A WNK1 YARS1 YEATS2

Diseases (199) :OMIM:613287 ORPHA:139399 OMIM:612674 ORPHA:101078 OMIM:606353 OMIM:608236 OMIM:617523 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:36386 OMIM:619851 OMIM:277900 OMIM:164400 ORPHA:98755 OMIM:603516 ORPHA:100998 ORPHA:139536 OMIM:619112 OMIM:270685 OMIM:619519 ORPHA:139578 OMIM:256840 ORPHA:65684 ORPHA:276435 OMIM:604168 ORPHA:48431 OMIM:213700 ORPHA:909 OMIM:610100 OMIM:618404 ORPHA:168563 OMIM:618733 OMIM:609129 OMIM:603511 OMIM:616192 OMIM:615368 ORPHA:401973 OMIM:600501 OMIM:607678 OMIM:145900 OMIM:605253 OMIM:620080 ORPHA:501 OMIM:610651 ORPHA:90321 ORPHA:90324 OMIM:133540 OMIM:216400 OMIM:608895 ORPHA:969 OMIM:615575 OMIM:609311 OMIM:611228 OMIM:609033 ORPHA:88628 ORPHA:95 OMIM:229300 ORPHA:206448 ORPHA:206436 OMIM:245200 ORPHA:206443 ORPHA:99944 ORPHA:99948 OMIM:607831 OMIM:607706 OMIM:214400 ORPHA:565624 OMIM:302800 ORPHA:101075 ORPHA:320401 OMIM:608804 ORPHA:99953 OMIM:605285 OMIM:619026 OMIM:261515 OMIM:606595 OMIM:608673 OMIM:610532 ORPHA:93473 ORPHA:93476 ORPHA:93474 OMIM:604320 OMIM:613641 OMIM:201300 OMIM:118210 OMIM:618138 ORPHA:298 OMIM:601098 ORPHA:98856 OMIM:605588 ORPHA:99027 OMIM:614436 ORPHA:167 OMIM:214500 OMIM:613608 OMIM:606070 ORPHA:600 OMIM:605589 ORPHA:485421 OMIM:609260 OMIM:601152 ORPHA:79330 ORPHA:466768 OMIM:616688 OMIM:618400 ORPHA:101082 OMIM:118200 OMIM:618184 ORPHA:3115 OMIM:180800 OMIM:601382 ORPHA:320375 ORPHA:397744 OMIM:193700 OMIM:615419 ORPHA:99950 OMIM:601455 ORPHA:99939 ORPHA:101085 OMIM:607684 OMIM:607734 ORPHA:812 OMIM:618356 OMIM:615273 OMIM:619260 OMIM:603472 ORPHA:642 ORPHA:1215 OMIM:125250 OMIM:601071 ORPHA:352675 OMIM:614863 ORPHA:35069 OMIM:256600 OMIM:615376 ORPHA:280234 ORPHA:280219 OMIM:618279 OMIM:118300 ORPHA:101081 ORPHA:90658 OMIM:118220 ORPHA:640 OMIM:162500 ORPHA:319514 OMIM:614932 ORPHA:1187 ORPHA:99014 OMIM:614895 OMIM:249900 ORPHA:456312 OMIM:600882 ORPHA:477817 OMIM:614751 OMIM:614575 OMIM:616515 OMIM:270550 OMIM:601068 OMIM:159550 OMIM:615284 ORPHA:99956 OMIM:604563 OMIM:618876 OMIM:602433 OMIM:606002 ORPHA:99949 OMIM:601596 OMIM:605726 OMIM:620068 OMIM:218000 OMIM:238970 ORPHA:66631 OMIM:618912 OMIM:609136 ORPHA:101001 OMIM:617519 OMIM:162400 OMIM:613640 OMIM:607876 ORPHA:1933 ORPHA:585 OMIM:616040 OMIM:615663 OMIM:608105 ORPHA:163727 ORPHA:431329 ORPHA:90117 ORPHA:52368 ORPHA:868 OMIM:606071 OMIM:277460 OMIM:619279 ORPHA:329478 ORPHA:435387 ORPHA:2388 OMIM:608323 OMIM:615127

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

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