Human Phenotype Ontology

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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 reflex (HP:0031826)

Parent Node:
Reduced tendon reflexes (HP:0001315)

..Starting node
..Hyporeflexia (HP:0001265)

Term ID:

1265

Name:

Hyporeflexia

Synonym:

Decreased reflex response; Decreased reflexes

Definition:

Reduction of neurologic reflexes such as the knee-jerk reaction.

Comments:

Reference:

HP:0001265

Genes and Diseases:

Child Nodes:

........

Hyporeflexia of lower limbs (HP:0002600)

................... HP:0009072 Decreased Achilles reflex
................... HP:0011808 Decreased patellar reflex

........

Hyporeflexia of upper limbs (HP:0012391)

........

Jaw hyporeflexia (HP:0012392)

Sister Nodes:

Areflexia (HP:0001284)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001265	HP:0001265	Hyporeflexia	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0001265	HP:0001265	Hyporeflexia	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0001265	HP:0001265	Hyporeflexia	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0001265	HP:0001265	Hyporeflexia	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.		50
HP:0001265	HP:0001265	Hyporeflexia	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0001265	HP:0001265	Hyporeflexia	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		11
HP:0001265	HP:0001265	Hyporeflexia	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0001265	HP:0001265	Hyporeflexia	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0001265	HP:0001265	Hyporeflexia	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		96
HP:0001265	HP:0001265	Hyporeflexia	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0001265	HP:0001265	Hyporeflexia	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.		96
HP:0001265	HP:0001265	Hyporeflexia	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001265	HP:0001265	Hyporeflexia	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		96
HP:0001265	HP:0001265	Hyporeflexia	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		96
HP:0001265	HP:0001265	Hyporeflexia	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0001265	HP:0001265	Hyporeflexia	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001265	HP:0001265	Hyporeflexia	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0001265	HP:0001265	Hyporeflexia	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0001265	HP:0001265	Hyporeflexia	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0001265	HP:0001265	Hyporeflexia	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.		60
HP:0001265	HP:0001265	Hyporeflexia	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0001265	HP:0001265	Hyporeflexia	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0001265	HP:0001265	Hyporeflexia	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001265	HP:0001265	Hyporeflexia	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0001265	HP:0001265	Hyporeflexia	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		7
HP:0001265	HP:0001265	Hyporeflexia	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0001265	HP:0001265	Hyporeflexia	0	AR CL E G H	367	644	ORPHA:481	Kennedy disease	HP:0040281 - Very frequent		125
HP:0001265	HP:0001265	Hyporeflexia	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.		125
HP:0001265	HP:0001265	Hyporeflexia	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0001265	HP:0001265	Hyporeflexia	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0001265	HP:0001265	Hyporeflexia	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0001265	HP:0001265	Hyporeflexia	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		253
HP:0001265	HP:0001265	Hyporeflexia	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		253
HP:0001265	HP:0001265	Hyporeflexia	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0001265	HP:0001265	Hyporeflexia	0	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF			5
HP:0001265	HP:0001265	Hyporeflexia	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0001265	HP:0001265	Hyporeflexia	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.		4
HP:0001265	HP:0001265	Hyporeflexia	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		239
HP:0001265	HP:0001265	Hyporeflexia	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		150
HP:0001265	HP:0001265	Hyporeflexia	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0001265	HP:0001265	Hyporeflexia	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0001265	HP:0001265	Hyporeflexia	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0001265	HP:0001265	Hyporeflexia	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0001265	HP:0001265	Hyporeflexia	0	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3	.		192
HP:0001265	HP:0001265	Hyporeflexia	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional		19
HP:0001265	HP:0001265	Hyporeflexia	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional		9
HP:0001265	HP:0001265	Hyporeflexia	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0001265	HP:0001265	Hyporeflexia	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0001265	HP:0001265	Hyporeflexia	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		43
HP:0001265	HP:0001265	Hyporeflexia	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040284 - Very rare		25
HP:0001265	HP:0001265	Hyporeflexia	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.		25
HP:0001265	HP:0001265	Hyporeflexia	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		17
HP:0001265	HP:0001265	Hyporeflexia	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0001265	HP:0001265	Hyporeflexia	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040282 - Frequent		1
HP:0001265	HP:0001265	Hyporeflexia	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040283 - Occasional		46
HP:0001265	HP:0001265	Hyporeflexia	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.		46
HP:0001265	HP:0001265	Hyporeflexia	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0001265	HP:0001265	Hyporeflexia	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0001265	HP:0001265	Hyporeflexia	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.		114
HP:0001265	HP:0001265	Hyporeflexia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		56
HP:0001265	HP:0001265	Hyporeflexia	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		449
HP:0001265	HP:0001265	Hyporeflexia	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0001265	HP:0001265	Hyporeflexia	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent		247
HP:0001265	HP:0001265	Hyporeflexia	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		59
HP:0001265	HP:0001265	Hyporeflexia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		35
HP:0001265	HP:0001265	Hyporeflexia	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0001265	HP:0001265	Hyporeflexia	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0001265	HP:0001265	Hyporeflexia	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		11
HP:0001265	HP:0001265	Hyporeflexia	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent		11
HP:0001265	HP:0001265	Hyporeflexia	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.		11
HP:0001265	HP:0001265	Hyporeflexia	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0001265	HP:0001265	Hyporeflexia	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0001265	HP:0001265	Hyporeflexia	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0001265	HP:0001265	Hyporeflexia	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0001265	HP:0001265	Hyporeflexia	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		18
HP:0001265	HP:0001265	Hyporeflexia	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0001265	HP:0001265	Hyporeflexia	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0001265	HP:0001265	Hyporeflexia	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0001265	HP:0001265	Hyporeflexia	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0001265	HP:0001265	Hyporeflexia	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.		16
HP:0001265	HP:0001265	Hyporeflexia	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0001265	HP:0001265	Hyporeflexia	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0001265	HP:0001265	Hyporeflexia	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0001265	HP:0001265	Hyporeflexia	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		193
HP:0001265	HP:0001265	Hyporeflexia	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0001265	HP:0001265	Hyporeflexia	0	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.		4
HP:0001265	HP:0001265	Hyporeflexia	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0001265	HP:0001265	Hyporeflexia	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0001265	HP:0001265	Hyporeflexia	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent		46
HP:0001265	HP:0001265	Hyporeflexia	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0001265	HP:0001265	Hyporeflexia	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0001265	HP:0001265	Hyporeflexia	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		108
HP:0001265	HP:0001265	Hyporeflexia	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional		60
HP:0001265	HP:0001265	Hyporeflexia	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.		60
HP:0001265	HP:0001265	Hyporeflexia	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital			80
HP:0001265	HP:0001265	Hyporeflexia	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.		2
HP:0001265	HP:0001265	Hyporeflexia	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0001265	HP:0001265	Hyporeflexia	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001265	HP:0001265	Hyporeflexia	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0001265	HP:0001265	Hyporeflexia	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		47
HP:0001265	HP:0001265	Hyporeflexia	0	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY			21
HP:0001265	HP:0001265	Hyporeflexia	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q			12
HP:0001265	HP:0001265	Hyporeflexia	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		65
HP:0001265	HP:0001265	Hyporeflexia	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0001265	HP:0001265	Hyporeflexia	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.		1496
HP:0001265	HP:0001265	Hyporeflexia	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0001265	HP:0001265	Hyporeflexia	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		72
HP:0001265	HP:0001265	Hyporeflexia	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.		167
HP:0001265	HP:0001265	Hyporeflexia	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.		145
HP:0001265	HP:0001265	Hyporeflexia	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.		3
HP:0001265	HP:0001265	Hyporeflexia	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0001265	HP:0001265	Hyporeflexia	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		121
HP:0001265	HP:0001265	Hyporeflexia	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		11
HP:0001265	HP:0001265	Hyporeflexia	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O	.		427
HP:0001265	HP:0001265	Hyporeflexia	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	.		427
HP:0001265	HP:0001265	Hyporeflexia	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0001265	HP:0001265	Hyporeflexia	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1			600
HP:0001265	HP:0001265	Hyporeflexia	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		60
HP:0001265	HP:0001265	Hyporeflexia	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0001265	HP:0001265	Hyporeflexia	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.		62
HP:0001265	HP:0001265	Hyporeflexia	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent		62
HP:0001265	HP:0001265	Hyporeflexia	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent		133
HP:0001265	HP:0001265	Hyporeflexia	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.		133
HP:0001265	HP:0001265	Hyporeflexia	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0001265	HP:0001265	Hyporeflexia	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040282 - Frequent		5
HP:0001265	HP:0001265	Hyporeflexia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0001265	HP:0001265	Hyporeflexia	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0001265	HP:0001265	Hyporeflexia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0001265	HP:0001265	Hyporeflexia	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0001265	HP:0001265	Hyporeflexia	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0001265	HP:0001265	Hyporeflexia	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0001265	HP:0001265	Hyporeflexia	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0001265	HP:0001265	Hyporeflexia	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001265	HP:0001265	Hyporeflexia	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001265	HP:0001265	Hyporeflexia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0001265	HP:0001265	Hyporeflexia	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0001265	HP:0001265	Hyporeflexia	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0001265	HP:0001265	Hyporeflexia	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent		1361
HP:0001265	HP:0001265	Hyporeflexia	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001265	HP:0001265	Hyporeflexia	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0001265	HP:0001265	Hyporeflexia	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0001265	HP:0001265	Hyporeflexia	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H	.		158
HP:0001265	HP:0001265	Hyporeflexia	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0001265	HP:0001265	Hyporeflexia	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0001265	HP:0001265	Hyporeflexia	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.		68
HP:0001265	HP:0001265	Hyporeflexia	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.		68
HP:0001265	HP:0001265	Hyporeflexia	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.		68
HP:0001265	HP:0001265	Hyporeflexia	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0001265	HP:0001265	Hyporeflexia	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.		157
HP:0001265	HP:0001265	Hyporeflexia	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		157
HP:0001265	HP:0001265	Hyporeflexia	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.		184
HP:0001265	HP:0001265	Hyporeflexia	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		184
HP:0001265	HP:0001265	Hyporeflexia	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0001265	HP:0001265	Hyporeflexia	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0001265	HP:0001265	Hyporeflexia	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001265	HP:0001265	Hyporeflexia	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.		197
HP:0001265	HP:0001265	Hyporeflexia	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0001265	HP:0001265	Hyporeflexia	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0001265	HP:0001265	Hyporeflexia	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent		30
HP:0001265	HP:0001265	Hyporeflexia	0	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	.		105
HP:0001265	HP:0001265	Hyporeflexia	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		105
HP:0001265	HP:0001265	Hyporeflexia	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0001265	HP:0001265	Hyporeflexia	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0001265	HP:0001265	Hyporeflexia	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		4
HP:0001265	HP:0001265	Hyporeflexia	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		44
HP:0001265	HP:0001265	Hyporeflexia	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		139
HP:0001265	HP:0001265	Hyporeflexia	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0001265	HP:0001265	Hyporeflexia	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0001265	HP:0001265	Hyporeflexia	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0001265	HP:0001265	Hyporeflexia	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0001265	HP:0001265	Hyporeflexia	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0001265	HP:0001265	Hyporeflexia	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001265	HP:0001265	Hyporeflexia	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.		108
HP:0001265	HP:0001265	Hyporeflexia	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.		108
HP:0001265	HP:0001265	Hyporeflexia	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0001265	HP:0001265	Hyporeflexia	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.		107
HP:0001265	HP:0001265	Hyporeflexia	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0001265	HP:0001265	Hyporeflexia	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0001265	HP:0001265	Hyporeflexia	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0001265	HP:0001265	Hyporeflexia	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0001265	HP:0001265	Hyporeflexia	0	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	.		12
HP:0001265	HP:0001265	Hyporeflexia	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0001265	HP:0001265	Hyporeflexia	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001265	HP:0001265	Hyporeflexia	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0001265	HP:0001265	Hyporeflexia	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional		434
HP:0001265	HP:0001265	Hyporeflexia	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0001265	HP:0001265	Hyporeflexia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0001265	HP:0001265	Hyporeflexia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001265	HP:0001265	Hyporeflexia	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001265	HP:0001265	Hyporeflexia	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001265	HP:0001265	Hyporeflexia	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		54
HP:0001265	HP:0001265	Hyporeflexia	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0001265	HP:0001265	Hyporeflexia	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0001265	HP:0001265	Hyporeflexia	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.		11
HP:0001265	HP:0001265	Hyporeflexia	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0001265	HP:0001265	Hyporeflexia	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.		5
HP:0001265	HP:0001265	Hyporeflexia	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	HP:0040283 - Occasional		98
HP:0001265	HP:0001265	Hyporeflexia	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.		47
HP:0001265	HP:0001265	Hyporeflexia	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB			47
HP:0001265	HP:0001265	Hyporeflexia	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.		38
HP:0001265	HP:0001265	Hyporeflexia	0	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA			38
HP:0001265	HP:0001265	Hyporeflexia	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0001265	HP:0001265	Hyporeflexia	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0001265	HP:0001265	Hyporeflexia	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0001265	HP:0001265	Hyporeflexia	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0001265	HP:0001265	Hyporeflexia	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0001265	HP:0001265	Hyporeflexia	0	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	.		209
HP:0001265	HP:0001265	Hyporeflexia	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0001265	HP:0001265	Hyporeflexia	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.		135
HP:0001265	HP:0001265	Hyporeflexia	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional		7
HP:0001265	HP:0001265	Hyporeflexia	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0001265	HP:0001265	Hyporeflexia	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		130
HP:0001265	HP:0001265	Hyporeflexia	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0001265	HP:0001265	Hyporeflexia	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		80
HP:0001265	HP:0001265	Hyporeflexia	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0001265	HP:0001265	Hyporeflexia	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		65
HP:0001265	HP:0001265	Hyporeflexia	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.		35
HP:0001265	HP:0001265	Hyporeflexia	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040282 - Frequent		35
HP:0001265	HP:0001265	Hyporeflexia	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent		10
HP:0001265	HP:0001265	Hyporeflexia	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2			10
HP:0001265	HP:0001265	Hyporeflexia	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0001265	HP:0001265	Hyporeflexia	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		276
HP:0001265	HP:0001265	Hyporeflexia	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC	.		276
HP:0001265	HP:0001265	Hyporeflexia	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.		202
HP:0001265	HP:0001265	Hyporeflexia	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0001265	HP:0001265	Hyporeflexia	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		13
HP:0001265	HP:0001265	Hyporeflexia	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0001265	HP:0001265	Hyporeflexia	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		13
HP:0001265	HP:0001265	Hyporeflexia	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0001265	HP:0001265	Hyporeflexia	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0001265	HP:0001265	Hyporeflexia	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0001265	HP:0001265	Hyporeflexia	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		136
HP:0001265	HP:0001265	Hyporeflexia	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0001265	HP:0001265	Hyporeflexia	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4			286
HP:0001265	HP:0001265	Hyporeflexia	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001265	HP:0001265	Hyporeflexia	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0001265	HP:0001265	Hyporeflexia	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0001265	HP:0001265	Hyporeflexia	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.		74
HP:0001265	HP:0001265	Hyporeflexia	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0001265	HP:0001265	Hyporeflexia	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0001265	HP:0001265	Hyporeflexia	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		11
HP:0001265	HP:0001265	Hyporeflexia	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.		95
HP:0001265	HP:0001265	Hyporeflexia	0	LRP4 CL E G H	4038	6696	OMIM:616304	Myasthenic syndrome, congenital, 17	.		124
HP:0001265	HP:0001265	Hyporeflexia	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0001265	HP:0001265	Hyporeflexia	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.		102
HP:0001265	HP:0001265	Hyporeflexia	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.		239
HP:0001265	HP:0001265	Hyporeflexia	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040282 - Frequent		4
HP:0001265	HP:0001265	Hyporeflexia	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0001265	HP:0001265	Hyporeflexia	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.		3
HP:0001265	HP:0001265	Hyporeflexia	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	HP:0040283 - Occasional		4
HP:0001265	HP:0001265	Hyporeflexia	0	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.		43
HP:0001265	HP:0001265	Hyporeflexia	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0001265	HP:0001265	Hyporeflexia	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.		203
HP:0001265	HP:0001265	Hyporeflexia	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0001265	HP:0001265	Hyporeflexia	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0001265	HP:0001265	Hyporeflexia	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0001265	HP:0001265	Hyporeflexia	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0001265	HP:0001265	Hyporeflexia	0	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	.		18
HP:0001265	HP:0001265	Hyporeflexia	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0001265	HP:0001265	Hyporeflexia	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent		18
HP:0001265	HP:0001265	Hyporeflexia	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0001265	HP:0001265	Hyporeflexia	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0001265	HP:0001265	Hyporeflexia	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0001265	HP:0001265	Hyporeflexia	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.		56
HP:0001265	HP:0001265	Hyporeflexia	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0001265	HP:0001265	Hyporeflexia	0	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I	.		134
HP:0001265	HP:0001265	Hyporeflexia	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.		134
HP:0001265	HP:0001265	Hyporeflexia	0	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	.		134
HP:0001265	HP:0001265	Hyporeflexia	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J	.		134
HP:0001265	HP:0001265	Hyporeflexia	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0001265	HP:0001265	Hyporeflexia	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0001265	HP:0001265	Hyporeflexia	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0001265	HP:0001265	Hyporeflexia	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.		532
HP:0001265	HP:0001265	Hyporeflexia	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0001265	HP:0001265	Hyporeflexia	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040283 - Occasional		19
HP:0001265	HP:0001265	Hyporeflexia	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	HP:0003584 - Late onset	19
HP:0001265	HP:0001265	Hyporeflexia	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.		227
HP:0001265	HP:0001265	Hyporeflexia	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent		227
HP:0001265	HP:0001265	Hyporeflexia	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001265	HP:0001265	Hyporeflexia	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001265	HP:0001265	Hyporeflexia	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0001265	HP:0001265	Hyporeflexia	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040281 - Very frequent		75
HP:0001265	HP:0001265	Hyporeflexia	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0001265	HP:0001265	Hyporeflexia	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		217
HP:0001265	HP:0001265	Hyporeflexia	0	NAGLU CL E G H	4669	7632	OMIM:616491	Charcot-Marie-Tooth disease, axonal, type 2V	.		72
HP:0001265	HP:0001265	Hyporeflexia	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001265	HP:0001265	Hyporeflexia	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001265	HP:0001265	Hyporeflexia	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0001265	HP:0001265	Hyporeflexia	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.		82
HP:0001265	HP:0001265	Hyporeflexia	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.		7
HP:0001265	HP:0001265	Hyporeflexia	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.		27
HP:0001265	HP:0001265	Hyporeflexia	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0001265	HP:0001265	Hyporeflexia	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		745
HP:0001265	HP:0001265	Hyporeflexia	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0001265	HP:0001265	Hyporeflexia	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001265	HP:0001265	Hyporeflexia	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		745
HP:0001265	HP:0001265	Hyporeflexia	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0001265	HP:0001265	Hyporeflexia	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC	.		24
HP:0001265	HP:0001265	Hyporeflexia	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent		118
HP:0001265	HP:0001265	Hyporeflexia	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.		118
HP:0001265	HP:0001265	Hyporeflexia	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.		118
HP:0001265	HP:0001265	Hyporeflexia	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.		118
HP:0001265	HP:0001265	Hyporeflexia	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0001265	HP:0001265	Hyporeflexia	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0001265	HP:0001265	Hyporeflexia	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0001265	HP:0001265	Hyporeflexia	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0001265	HP:0001265	Hyporeflexia	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0001265	HP:0001265	Hyporeflexia	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		8
HP:0001265	HP:0001265	Hyporeflexia	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0001265	HP:0001265	Hyporeflexia	0	OTOG CL E G H	340990	8516	OMIM:614945	Deafness, autosomal recessive 18B	.		165
HP:0001265	HP:0001265	Hyporeflexia	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		26
HP:0001265	HP:0001265	Hyporeflexia	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		14
HP:0001265	HP:0001265	Hyporeflexia	0	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD			37
HP:0001265	HP:0001265	Hyporeflexia	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	.		4
HP:0001265	HP:0001265	Hyporeflexia	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		169
HP:0001265	HP:0001265	Hyporeflexia	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0001265	HP:0001265	Hyporeflexia	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	HP:0040283 - Occasional		75
HP:0001265	HP:0001265	Hyporeflexia	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0001265	HP:0001265	Hyporeflexia	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0001265	HP:0001265	Hyporeflexia	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0001265	HP:0001265	Hyporeflexia	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		98
HP:0001265	HP:0001265	Hyporeflexia	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.		72
HP:0001265	HP:0001265	Hyporeflexia	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23	.		15
HP:0001265	HP:0001265	Hyporeflexia	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.		45
HP:0001265	HP:0001265	Hyporeflexia	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001265	HP:0001265	Hyporeflexia	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent		7
HP:0001265	HP:0001265	Hyporeflexia	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0001265	HP:0001265	Hyporeflexia	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent		37
HP:0001265	HP:0001265	Hyporeflexia	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0001265	HP:0001265	Hyporeflexia	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.		11
HP:0001265	HP:0001265	Hyporeflexia	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0001265	HP:0001265	Hyporeflexia	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0001265	HP:0001265	Hyporeflexia	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0001265	HP:0001265	Hyporeflexia	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent		79
HP:0001265	HP:0001265	Hyporeflexia	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.		79
HP:0001265	HP:0001265	Hyporeflexia	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040282 - Frequent		79
HP:0001265	HP:0001265	Hyporeflexia	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0001265	HP:0001265	Hyporeflexia	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0001265	HP:0001265	Hyporeflexia	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040283 - Occasional		79
HP:0001265	HP:0001265	Hyporeflexia	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0001265	HP:0001265	Hyporeflexia	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies	.		79
HP:0001265	HP:0001265	Hyporeflexia	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0001265	HP:0001265	Hyporeflexia	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	HP:0040283 - Occasional		7
HP:0001265	HP:0001265	Hyporeflexia	0	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.		244
HP:0001265	HP:0001265	Hyporeflexia	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay	HP:0040283 - Occasional		244
HP:0001265	HP:0001265	Hyporeflexia	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0001265	HP:0001265	Hyporeflexia	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0001265	HP:0001265	Hyporeflexia	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0001265	HP:0001265	Hyporeflexia	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0001265	HP:0001265	Hyporeflexia	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0001265	HP:0001265	Hyporeflexia	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0001265	HP:0001265	Hyporeflexia	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0001265	HP:0001265	Hyporeflexia	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0001265	HP:0001265	Hyporeflexia	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0001265	HP:0001265	Hyporeflexia	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0001265	HP:0001265	Hyporeflexia	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0001265	HP:0001265	Hyporeflexia	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		180
HP:0001265	HP:0001265	Hyporeflexia	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		33
HP:0001265	HP:0001265	Hyporeflexia	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.		18
HP:0001265	HP:0001265	Hyporeflexia	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		18
HP:0001265	HP:0001265	Hyporeflexia	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		213
HP:0001265	HP:0001265	Hyporeflexia	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0001265	HP:0001265	Hyporeflexia	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		221
HP:0001265	HP:0001265	Hyporeflexia	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0001265	HP:0001265	Hyporeflexia	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional		41
HP:0001265	HP:0001265	Hyporeflexia	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001265	HP:0001265	Hyporeflexia	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0001265	HP:0001265	Hyporeflexia	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII			6
HP:0001265	HP:0001265	Hyporeflexia	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001265	HP:0001265	Hyporeflexia	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0001265	HP:0001265	Hyporeflexia	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14			83
HP:0001265	HP:0001265	Hyporeflexia	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0001265	HP:0001265	Hyporeflexia	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0001265	HP:0001265	Hyporeflexia	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0001265	HP:0001265	Hyporeflexia	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0001265	HP:0001265	Hyporeflexia	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0001265	HP:0001265	Hyporeflexia	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0001265	HP:0001265	Hyporeflexia	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		81
HP:0001265	HP:0001265	Hyporeflexia	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		81
HP:0001265	HP:0001265	Hyporeflexia	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	HP:0040284 - Very rare		22
HP:0001265	HP:0001265	Hyporeflexia	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0001265	HP:0001265	Hyporeflexia	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0001265	HP:0001265	Hyporeflexia	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001265	HP:0001265	Hyporeflexia	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.		50
HP:0001265	HP:0001265	Hyporeflexia	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0001265	HP:0001265	Hyporeflexia	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0001265	HP:0001265	Hyporeflexia	0	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0001265	HP:0001265	Hyporeflexia	0	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB	.		87
HP:0001265	HP:0001265	Hyporeflexia	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		54
HP:0001265	HP:0001265	Hyporeflexia	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.		54
HP:0001265	HP:0001265	Hyporeflexia	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0001265	HP:0001265	Hyporeflexia	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0001265	HP:0001265	Hyporeflexia	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001265	HP:0001265	Hyporeflexia	0	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant	.		3
HP:0001265	HP:0001265	Hyporeflexia	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0001265	HP:0001265	Hyporeflexia	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	HP:0040283 - Occasional		125
HP:0001265	HP:0001265	Hyporeflexia	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		77
HP:0001265	HP:0001265	Hyporeflexia	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040281 - Very frequent		9
HP:0001265	HP:0001265	Hyporeflexia	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0001265	HP:0001265	Hyporeflexia	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0001265	HP:0001265	Hyporeflexia	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040281 - Very frequent		1200
HP:0001265	HP:0001265	Hyporeflexia	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0001265	HP:0001265	Hyporeflexia	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement			1200
HP:0001265	HP:0001265	Hyporeflexia	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0001265	HP:0001265	Hyporeflexia	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		70
HP:0001265	HP:0001265	Hyporeflexia	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		357
HP:0001265	HP:0001265	Hyporeflexia	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		318
HP:0001265	HP:0001265	Hyporeflexia	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0001265	HP:0001265	Hyporeflexia	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.		5
HP:0001265	HP:0001265	Hyporeflexia	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		144
HP:0001265	HP:0001265	Hyporeflexia	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0001265	HP:0001265	Hyporeflexia	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.	HP:0003623 - Neonatal onset	53
HP:0001265	HP:0001265	Hyporeflexia	0	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.		6
HP:0001265	HP:0001265	Hyporeflexia	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional		67
HP:0001265	HP:0001265	Hyporeflexia	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		73
HP:0001265	HP:0001265	Hyporeflexia	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001265	HP:0001265	Hyporeflexia	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0001265	HP:0001265	Hyporeflexia	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.		28
HP:0001265	HP:0001265	Hyporeflexia	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0001265	HP:0001265	Hyporeflexia	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)	.		36
HP:0001265	HP:0001265	Hyporeflexia	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0001265	HP:0001265	Hyporeflexia	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	.		68
HP:0001265	HP:0001265	Hyporeflexia	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.		14
HP:0001265	HP:0001265	Hyporeflexia	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0001265	HP:0001265	Hyporeflexia	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0001265	HP:0001265	Hyporeflexia	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		59
HP:0001265	HP:0001265	Hyporeflexia	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.		9
HP:0001265	HP:0001265	Hyporeflexia	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0001265	HP:0001265	Hyporeflexia	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.		22
HP:0001265	HP:0001265	Hyporeflexia	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.		1
HP:0001265	HP:0001265	Hyporeflexia	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.		164
HP:0001265	HP:0001265	Hyporeflexia	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001265	HP:0001265	Hyporeflexia	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.		3
HP:0001265	HP:0001265	Hyporeflexia	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0001265	HP:0001265	Hyporeflexia	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0001265	HP:0001265	Hyporeflexia	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0001265	HP:0001265	Hyporeflexia	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0001265	HP:0001265	Hyporeflexia	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.		54
HP:0001265	HP:0001265	Hyporeflexia	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0001265	HP:0001265	Hyporeflexia	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0001265	HP:0001265	Hyporeflexia	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		62
HP:0001265	HP:0001265	Hyporeflexia	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0001265	HP:0001265	Hyporeflexia	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0001265	HP:0001265	Hyporeflexia	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0001265	HP:0001265	Hyporeflexia	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0001265	HP:0001265	Hyporeflexia	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0001265	HP:0001265	Hyporeflexia	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0001265	HP:0001265	Hyporeflexia	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0001265	HP:0001265	Hyporeflexia	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001265	HP:0001265	Hyporeflexia	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0001265	HP:0001265	Hyporeflexia	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		9
HP:0001265	HP:0001265	Hyporeflexia	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		9
HP:0001265	HP:0001265	Hyporeflexia	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic	.		4
HP:0001265	HP:0001265	Hyporeflexia	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0001265	HP:0001265	Hyporeflexia	0	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18	.		123
HP:0001265	HP:0001265	Hyporeflexia	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		123
HP:0001265	HP:0001265	Hyporeflexia	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001265	HP:0001265	Hyporeflexia	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		65
HP:0001265	HP:0001265	Hyporeflexia	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0001265	HP:0001265	Hyporeflexia	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0001265	HP:0001265	Hyporeflexia	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001265	HP:0001265	Hyporeflexia	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001265	HP:0001265	Hyporeflexia	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0001265	HP:0001265	Hyporeflexia	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		20
HP:0001265	HP:0001265	Hyporeflexia	0	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	.		52
HP:0001265	HP:0001265	Hyporeflexia	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		238
HP:0001265	HP:0001265	Hyporeflexia	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		155
HP:0001265	HP:0001265	Hyporeflexia	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		60
HP:0001265	HP:0001265	Hyporeflexia	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		103
HP:0001265	HP:0001265	Hyporeflexia	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0001265	HP:0001265	Hyporeflexia	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001265	HP:0001265	Hyporeflexia	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.		9
HP:0001265	HP:0001265	Hyporeflexia	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0001265	HP:0001265	Hyporeflexia	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		54
HP:0001265	HP:0001265	Hyporeflexia	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0001265	HP:0001265	Hyporeflexia	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		54
HP:0001265	HP:0001265	Hyporeflexia	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		108
HP:0001265	HP:0001265	Hyporeflexia	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0001265	HP:0001265	Hyporeflexia	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		92
HP:0001265	HP:0001265	Hyporeflexia	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent		27
HP:0001265	HP:0001265	Hyporeflexia	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.		108
HP:0001265	HP:0001265	Hyporeflexia	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0001265	HP:0001265	Hyporeflexia	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0001265	HP:0001265	Hyporeflexia	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent		101
HP:0001265	HP:0001265	Hyporeflexia	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0001265	HP:0001265	Hyporeflexia	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001265	HP:0001265	Hyporeflexia	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0001265	HP:0001265	Hyporeflexia	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0001265	HP:0001265	Hyporeflexia	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0001265	HP:0001265	Hyporeflexia	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0001265	HP:0001265	Hyporeflexia	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0001265	HP:0001265	Hyporeflexia	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional		97
HP:0001265	HP:0001265	Hyporeflexia	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040282 - Frequent		1
HP:0001265	HP:0001265	Hyporeflexia	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0001265	HP:0001265	Hyporeflexia	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040281 - Very frequent		21
HP:0001265	HP:0001265	Hyporeflexia	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0001265	HP:0001265	Hyporeflexia	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	.		113
HP:0001265	HP:0001265	Hyporeflexia	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0001265	HP:0001265	Hyporeflexia	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0001265	HP:0001265	Hyporeflexia	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0001265	HP:0001265	Hyporeflexia	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0001265	HP:0001265	Hyporeflexia	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001265	HP:0001265	Hyporeflexia	0	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included	.		116
HP:0001265	HP:0001265	Hyporeflexia	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		63
HP:0001265	HP:0001265	Hyporeflexia	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.		130
HP:0001265	HP:0001265	Hyporeflexia	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0001265	HP:0001265	Hyporeflexia	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001265	HP:0001265	Hyporeflexia	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0001265	HP:0001265	Hyporeflexia	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001265	HP:0001265	Hyporeflexia	0	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX	.
HP:0001265	HP:0001265	Hyporeflexia	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0001265	HP:0001265	Hyporeflexia	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		199
HP:0001265	HP:0001265	Hyporeflexia	0	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	HP:0040281 - Very frequent		149
HP:0001265	HP:0001265	Hyporeflexia	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		149
HP:0001265	HP:0001265	Hyporeflexia	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.		149
HP:0001265	HP:0001265	Hyporeflexia	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0001265	HP:0001265	Hyporeflexia	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0001265	HP:0001265	Hyporeflexia	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0001265	HP:0012392	Jaw hyporeflexia	1	CL E G H
HP:0001265	HP:0012391	Hyporeflexia of upper limbs	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF	.		5
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040282 - Frequent		36
HP:0001265	HP:0012391	Hyporeflexia of upper limbs	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040282 - Frequent		36
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.		263
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1			600
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040281 - Very frequent		197
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001265	HP:0012391	Hyporeflexia of upper limbs	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.		47
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.		38
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040282 - Frequent		1
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent		1
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.		286
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent		645
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.		75
HP:0001265	HP:0012391	Hyporeflexia of upper limbs	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent		79
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent		79
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional		83
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0001265	HP:0012391	Hyporeflexia of upper limbs	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0001265	HP:0012391	Hyporeflexia of upper limbs	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent		1200
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0001265	HP:0012391	Hyporeflexia of upper limbs	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0001265	HP:0002600	Hyporeflexia of lower limbs	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.		31
HP:0001265	HP:0012391	Hyporeflexia of upper limbs	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0001265	HP:0033202	Brachioradialis hyporeflexia	2	CL E G H
HP:0001265	HP:0033201	Biceps hyporeflexia	2	CL E G H
HP:0001265	HP:0033200	Triceps hyporeflexia	2	CL E G H
HP:0001265	HP:0009072	Decreased Achilles reflex	2	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040283 - Occasional
HP:0001265	HP:0011808	Decreased patellar reflex	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001265	HP:0009072	Decreased Achilles reflex	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001265	HP:0009072	Decreased Achilles reflex	2	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.		46
HP:0001265	HP:0011808	Decreased patellar reflex	2	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.		427
HP:0001265	HP:0009072	Decreased Achilles reflex	2	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.		600
HP:0001265	HP:0011808	Decreased patellar reflex	2	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0001265	HP:0009072	Decreased Achilles reflex	2	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0001265	HP:0009072	Decreased Achilles reflex	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001265	HP:0011808	Decreased patellar reflex	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0001265	HP:0011808	Decreased patellar reflex	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0001265	HP:0009072	Decreased Achilles reflex	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent		16
HP:0001265	HP:0011808	Decreased patellar reflex	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare		286
HP:0001265	HP:0009072	Decreased Achilles reflex	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare		286
HP:0001265	HP:0011808	Decreased patellar reflex	2	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0001265	HP:0009072	Decreased Achilles reflex	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent		1269
HP:0001265	HP:0011808	Decreased patellar reflex	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent		1269

Genes (398) :AARS1 AARS2 ABCA1 ABHD12 ACAT1 ACD ACO2 ACOX1 ACTA1 ACTL6B ADSS1 AGRN AGTPBP1 AIFM1 ALDH5A1 AMT ANXA11 AP3B2 APTX AR ARHGEF2 ARSA ARV1 ATL3 ATN1 ATP1A1 ATP1A2 ATP1A3 ATP6 ATP6AP2 ATP6V1A ATP6V1B2 ATP7A ATXN1 ATXN10 ATXN2 B3GALNT2 B4GALNT1 B4GAT1 BAG3 BEAN1 BICD2 BSND C19ORF12 C9ORF72 CACNA1A CACNA1B CACNA1S CACNA2D1 CARS1 CDK19 CELF2 CFL2 CHAT CHCHD10 CLCNKA CLCNKB CLTC CNBP CNKSR2 CNTNAP1 CNTNAP2 COA7 COASY COG7 COL13A1 COL4A1 COLQ COX6A1 COX8A CRPPA CRYAB CYFIP2 DAG1 DALRD3 DARS2 DBH DCAF8 DEAF1 DES DGUOK DHDDS DHH DHTKD1 DKC1 DMD DNAJC6 DNM1 DNM2 DNMT1 DOCK3 DPAGT1 DUOX2 DUOXA2 DYNC1H1 DYSF EEF1A2 EGR2 ELOVL4 ELP1 EMC1 ERCC2 ERCC3 ERCC6 EXOSC1 EXOSC3 EXOSC8 EXOSC9 EXTL3 FASTKD2 FBLN5 FBN1 FBXO28 FBXO38 FDX2 FGD4 FGF12 FGF13 FHL1 FIG4 FKRP FKTN FLI1 FLII FLNC FLRT1 FMR1 FUS FZR1 GAA GABBR2 GABRA2 GABRA3 GABRA5 GABRB2 GABRG2 GALC GAN GARS1 GBA1 GBF1 GCSH GDAP1 GEMIN4 GJB1 GLDC GNAS GNB4 GNPTAB GRIA3 GRIN2A GRIN2D GTF2E2 GTF2H5 HADHA HADHB HCN1 HDAC4 HESX1 HK1 HMGCL HNRNPDL HSD17B4 HSPB1 HSPB8 HSPG2 IARS2 IBA57 IFRD1 IGHMBP2 INF2 INPP5K IQSEC2 IYD KARS1 KBTBD13 KCNA2 KCNB1 KCND3 KCNJ18 KIAA0586 KIF1A KIF1B KLC2 KLHL41 KY LAMB2 LARGE1 LDB3 LGI3 LHX3 LHX4 LITAF LMNA LMOD3 LPIN1 LRP4 LRRK1 LRSAM1 LYST MAG MCM3AP MDH2 MED25 MEGF10 MFN2 MGME1 MME MORC2 MPLKIP MPV17 MPZ MRE11 MSTO1 MTPAP MYH14 MYH7 MYO9A MYOT MYPN NAGLU NARS1 NARS2 ND1 ND2 ND3 ND4 ND5 ND6 NDRG1 NDUFA1 NDUFA9 NDUFS4 NEB NECAP1 NEFH NEFL NFASC NGLY1 NOTCH2NLC NTRK2 NUS1 OTOG PARN PARS2 PDHB PDK3 PEX1 PEX10 PEX12 PEX2 PEX5 PEX6 PEX7 PGM3 PHYH PIGB PIGG PIGN PIK3R5 PLP1 PMM2 PMP22 PMPCA PNKP PNPLA6 PNPT1 PODXL POLG POLG2 POLR3B POMGNT1 POMGNT2 POMK POMT1 POMT2 POU1F1 PPOX PPP1R21 PPP3CA PRDM12 PRDM13 PRKCG PROP1 PRX PSAP PTF1A PTRH2 PYROXD1 QRICH1 RAB7A RAI1 REEP1 RETREG1 RFC1 RMND1 RNF113A RNF170 RRM2B RTEL1 RUBCN RXYLT1 RYR1 SBF2 SCN3A SCN8A SCN9A SCYL1 SELENON SEPTIN9 SETX SHANK3 SIGMAR1 SIL1 SLC13A5 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC25A4 SLC25A46 SLC35A1 SLC38A3 SLC5A5 SLC5A7 SMN1 SMN2 SMPD1 SNAP25 SNIP1 SNRPN SNX14 SOX10 SPTLC1 SPTLC2 SQSTM1 ST3GAL5 STAC3 STIM1 STX16 SUCLA2 SYNE1 SYNGAP1 SYNJ1 SYT2 SZT2 TAOK1 TARDBP TARS1 TBC1D23 TBC1D24 TBCK TBK1 TDP1 TERT TG TINF2 TK2 TMCO1 TMEM240 TPI1 TPM2 TPM3 TPO TRAK1 TRAPPC11 TRIM32 TRIM8 TRMT5 TRMU TRNE TRNK TRNL1 TRNV TRNW TRPV4 TSEN15 TSHB TSHR TSPYL1 TTR TUBA8 TWNK UBA5 VAMP1 VAPB VCP VPS13A VPS33A VRK1 VWA1 WARS1 WDR81 WNK1 WWOX XPA YWHAG ZSWIM6

Diseases (378) :OMIM:613287 ORPHA:442835 OMIM:614096 OMIM:205400 OMIM:612674 ORPHA:134 ORPHA:3322 OMIM:614559 OMIM:618960 ORPHA:171439 ORPHA:171433 OMIM:616852 OMIM:161800 ORPHA:97244 ORPHA:171436 ORPHA:482601 OMIM:617030 ORPHA:98914 ORPHA:2254 OMIM:300816 OMIM:271980 OMIM:605899 OMIM:619733 OMIM:617276 OMIM:208920 ORPHA:481 OMIM:313200 OMIM:617523 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:615632 ORPHA:101 OMIM:618036 ORPHA:255210 OMIM:300423 ORPHA:93952 ORPHA:79500 OMIM:300489 ORPHA:98755 ORPHA:98761 OMIM:183090 ORPHA:98756 ORPHA:899 ORPHA:101006 OMIM:609195 OMIM:612954 ORPHA:217012 ORPHA:363454 OMIM:615290 OMIM:602522 OMIM:614298 OMIM:615043 ORPHA:275872 ORPHA:79102 ORPHA:33364 OMIM:615911 ORPHA:276435 OMIM:615048 OMIM:613090 OMIM:602668 OMIM:618186 ORPHA:163681 OMIM:610042 OMIM:618387 OMIM:615643 ORPHA:79333 OMIM:608779 ORPHA:98915 OMIM:616039 OMIM:619059 ORPHA:399058 OMIM:608810 ORPHA:137898 OMIM:611105 OMIM:223360 OMIM:610100 ORPHA:819 OMIM:601419 OMIM:617070 OMIM:607080 OMIM:615025 OMIM:310200 OMIM:300376 ORPHA:391411 OMIM:606482 OMIM:614116 OMIM:618292 ORPHA:86309 ORPHA:95716 OMIM:614228 OMIM:614563 OMIM:158600 OMIM:254130 OMIM:145900 OMIM:133190 ORPHA:1955 ORPHA:1764 OMIM:223900 OMIM:616875 ORPHA:480898 OMIM:278730 OMIM:278800 OMIM:619304 OMIM:618065 ORPHA:508533 OMIM:618855 OMIM:608895 ORPHA:284979 OMIM:619777 OMIM:615575 OMIM:251900 OMIM:609311 OMIM:300718 OMIM:300717 OMIM:300695 OMIM:611228 OMIM:613153 OMIM:611588 ORPHA:370348 ORPHA:63273 OMIM:614065 ORPHA:320406 OMIM:300623 ORPHA:93256 OMIM:608030 OMIM:232300 ORPHA:206436 OMIM:256850 OMIM:601472 ORPHA:2072 OMIM:606483 ORPHA:99948 OMIM:608340 OMIM:214400 OMIM:617913 OMIM:302800 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:615185 OMIM:252500 OMIM:300699 ORPHA:364028 ORPHA:289266 ORPHA:746 OMIM:600430 ORPHA:226307 OMIM:605285 ORPHA:20 OMIM:609115 OMIM:233400 OMIM:606595 OMIM:608634 OMIM:608673 OMIM:158590 ORPHA:800 OMIM:255800 OMIM:616007 ORPHA:468661 ORPHA:98771 OMIM:616155 OMIM:604320 OMIM:614455 ORPHA:559 OMIM:613641 OMIM:607346 ORPHA:98772 OMIM:613239 OMIM:616546 OMIM:201300 OMIM:614213 OMIM:118210 OMIM:617114 OMIM:609049 ORPHA:98912 OMIM:609452 OMIM:620007 OMIM:601098 ORPHA:98855 OMIM:605588 OMIM:268200 OMIM:616304 OMIM:615198 OMIM:614436 OMIM:214500 ORPHA:459056 OMIM:616680 OMIM:618124 OMIM:617339 OMIM:605589 OMIM:614399 OMIM:617087 OMIM:609260 OMIM:601152 OMIM:615084 ORPHA:352447 OMIM:617017 OMIM:617018 ORPHA:497764 OMIM:616688 OMIM:619090 OMIM:618400 OMIM:256810 OMIM:607677 OMIM:118200 OMIM:607791 OMIM:607736 OMIM:618184 OMIM:180800 OMIM:604391 ORPHA:502423 OMIM:617675 ORPHA:254343 OMIM:613672 OMIM:614369 ORPHA:397744 ORPHA:437572 OMIM:160500 ORPHA:98911 OMIM:609200 OMIM:616491 OMIM:619091 OMIM:619092 OMIM:616239 OMIM:601455 OMIM:301020 OMIM:618247 OMIM:252010 OMIM:256030 OMIM:616924 ORPHA:99939 OMIM:607684 OMIM:607734 OMIM:617882 OMIM:618356 ORPHA:404454 OMIM:615273 OMIM:603472 OMIM:619473 OMIM:614945 OMIM:614111 OMIM:300905 ORPHA:3220 OMIM:214100 OMIM:614871 OMIM:266510 OMIM:614867 OMIM:616716 OMIM:266500 OMIM:615816 OMIM:618580 ORPHA:488635 OMIM:616917 ORPHA:280633 OMIM:614080 OMIM:615217 OMIM:312080 OMIM:212065 ORPHA:79318 ORPHA:98916 OMIM:118300 ORPHA:101081 ORPHA:90658 OMIM:118220 ORPHA:640 OMIM:162500 OMIM:213200 OMIM:613402 OMIM:215470 OMIM:614932 ORPHA:254892 ORPHA:254886 OMIM:157640 OMIM:258450 OMIM:607459 ORPHA:70595 OMIM:619742 OMIM:616094 OMIM:613156 ORPHA:79473 OMIM:619383 OMIM:616488 OMIM:619909 OMIM:619761 ORPHA:98763 OMIM:611722 OMIM:249900 OMIM:609069 OMIM:616263 OMIM:617258 OMIM:617982 OMIM:600882 OMIM:182290 OMIM:620011 OMIM:614751 OMIM:613115 OMIM:614575 OMIM:614922 OMIM:608984 OMIM:613077 ORPHA:404499 OMIM:615705 ORPHA:324581 OMIM:117000 ORPHA:178145 OMIM:604563 ORPHA:466794 OMIM:616719 OMIM:162100 OMIM:606002 OMIM:606232 OMIM:605726 OMIM:618197 OMIM:613710 OMIM:617184 OMIM:616505 OMIM:603585 OMIM:158580 OMIM:253400 OMIM:257200 OMIM:614501 ORPHA:177907 ORPHA:397709 OMIM:616354 OMIM:609136 OMIM:162400 OMIM:613640 OMIM:616437 OMIM:609056 OMIM:255995 OMIM:160565 OMIM:612073 ORPHA:1933 OMIM:618484 ORPHA:319332 OMIM:616040 OMIM:615476 OMIM:619575 OMIM:617695 OMIM:220500 OMIM:616900 OMIM:616439 OMIM:607250 ORPHA:254875 OMIM:213980 OMIM:607454 OMIM:615512 OMIM:609285 ORPHA:369840 OMIM:254110 OMIM:619428 OMIM:616539 ORPHA:254864 ORPHA:2596 OMIM:606071 OMIM:181405 OMIM:600175 OMIM:617026 ORPHA:90674 ORPHA:90673 ORPHA:168593 OMIM:105210 ORPHA:250972 OMIM:616138 OMIM:609286 OMIM:182980 OMIM:200150 ORPHA:505248 OMIM:617303 OMIM:619216 OMIM:617721 OMIM:610185 ORPHA:284282 OMIM:614322 OMIM:278700 OMIM:617865

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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