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:
Abnormality of movement (HP:0100022)

Parent Node:
Abnormal reflex (HP:0031826)

..Starting node
..Reduced tendon reflexes (HP:0001315)

Term ID:

1315

Name:

Reduced tendon reflexes

Synonym:

Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes

Definition:

Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.

Comments:

Reference:

HP:0001315

Genes and Diseases:

Child Nodes:

........

Hyporeflexia (HP:0001265)

................... HP:0002600 Hyporeflexia of lower limbs
................... HP:0012391 Hyporeflexia of upper limbs
................... HP:0012392 Jaw hyporeflexia

........

Areflexia (HP:0001284)

................... HP:0002522 Areflexia of lower limbs
................... HP:0012046 Areflexia of upper limbs
................... HP:0031004 Hemiareflexia

Sister Nodes:

Abnormal superficial reflex (HP:0031828)

Hyperreflexia (HP:0001347)

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:0001315	HP:0001315	Reduced tendon reflexes	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis		90
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	197
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency		91
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH		120
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	96
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome		96
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ADCY6 CL E G H	112	237	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent	2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8		2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2		74
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency		108
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik		58
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD		62
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy		56
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1	.	356
HP:0001315	HP:0001315	Reduced tendon reflexes	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AR CL E G H	367	644	ORPHA:481	Kennedy disease		125
HP:0001315	HP:0001315	Reduced tendon reflexes	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy		253
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		253
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF		5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy		16
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD		4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	239
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome		150
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	150
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3		192
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1		19
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10		9
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0001315	HP:0001315	Reduced tendon reflexes	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0001315	HP:0001315	Reduced tendon reflexes	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26		25
HP:0001315	HP:0001315	Reduced tendon reflexes	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive		25
HP:0001315	HP:0001315	Reduced tendon reflexes	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0001315	HP:0001315	Reduced tendon reflexes	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6		204
HP:0001315	HP:0001315	Reduced tendon reflexes	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy		46
HP:0001315	HP:0001315	Reduced tendon reflexes	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0001315	HP:0001315	Reduced tendon reflexes	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0001315	HP:0001315	Reduced tendon reflexes	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0001315	HP:0001315	Reduced tendon reflexes	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0001315	HP:0001315	Reduced tendon reflexes	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0001315	HP:0001315	Reduced tendon reflexes	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0001315	HP:0001315	Reduced tendon reflexes	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0001315	HP:0001315	Reduced tendon reflexes	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive		114
HP:0001315	HP:0001315	Reduced tendon reflexes	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	449
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	59
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	18
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north		40
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CNTNAP1 CL E G H	8506	8011	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent	9
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7		9
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.	518
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6		16
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D		4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040281 - Very frequent	99
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2		46
HP:0001315	HP:0001315	Reduced tendon reflexes	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001315	HP:0001315	Reduced tendon reflexes	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:0001315	HP:0001315	Reduced tendon reflexes	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent	80
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant		2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome		33
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy		263
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4		57
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	47
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY		21
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent	21
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q		12
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		65
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type		1496
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5		30
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	72
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form		94
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1		94
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B		167
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE		145
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent	9
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency		144
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI		108
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis		121
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O		427
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant		427
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset		600
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional	600
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1		600
HP:0001315	HP:0001315	Reduced tendon reflexes	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy		600
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive		58
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34		62
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III		133
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome		5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	107
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	20
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	106
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D		106
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	83
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent	199
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62		2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001315	HP:0001315	Reduced tendon reflexes	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44		122
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H		63
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H		158
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe		68
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant		68
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	68
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J		111
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome	HP:0040283 - Occasional	61
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4		184
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome		30
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia		105
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent	3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001315	HP:0001315	Reduced tendon reflexes	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	44
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	139
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy		121
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.	86
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form		86
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy		5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		108
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive		108
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A		108
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A		108
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent	14
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1		107
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy		166
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A		101
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B		101
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C		101
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F		12
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation		434
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency		99
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	54
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome		33
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		21
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	HP:0040281 - Very frequent	47
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F		47
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB		47
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC		13
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L		38
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA		38
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0001315	HP:0001315	Reduced tendon reflexes	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0001315	HP:0001315	Reduced tendon reflexes	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0001315	HP:0001315	Reduced tendon reflexes	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0001315	HP:0001315	Reduced tendon reflexes	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive		16
HP:0001315	HP:0001315	Reduced tendon reflexes	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S		209
HP:0001315	HP:0001315	Reduced tendon reflexes	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1		209
HP:0001315	HP:0001315	Reduced tendon reflexes	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E		135
HP:0001315	HP:0001315	Reduced tendon reflexes	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome		7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome		119
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	127
HP:0001315	HP:0001315	Reduced tendon reflexes	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis		130
HP:0001315	HP:0001315	Reduced tendon reflexes	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0001315	HP:0001315	Reduced tendon reflexes	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001315	HP:0001315	Reduced tendon reflexes	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	65
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19		35
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22		35
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC		276
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0001315	HP:0001315	Reduced tendon reflexes	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient		411
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type		286
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4		286
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect		6
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LGI4 CL E G H	163175	18712	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent	6
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		51
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		43
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C		74
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1		645
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LRP4 CL E G H	4038	6696	OMIM:616304	Myasthenic syndrome, congenital, 17		124
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P		102
HP:0001315	HP:0001315	Reduced tendon reflexes	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75		4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		43
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B		203
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A		203
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040282 - Frequent	203
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T		18
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43		18
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent	8
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z		8
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B		134
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I		134
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B		134
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D		134
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J		134
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1		532
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome		19
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive		19
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent	1269
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	131
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy		75
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY		75
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent	217
HP:0001315	HP:0001315	Reduced tendon reflexes	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NAGLU CL E G H	4669	7632	OMIM:616491	Charcot-Marie-Tooth disease, axonal, type 2V		72
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24		34
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D		82
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12		7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E		118
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G		118
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	8
HP:0001315	HP:0001315	Reduced tendon reflexes	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0001315	HP:0001315	Reduced tendon reflexes	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0001315	HP:0001315	Reduced tendon reflexes	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0001315	HP:0001315	Reduced tendon reflexes	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form		214
HP:0001315	HP:0001315	Reduced tendon reflexes	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0001315	HP:0001315	Reduced tendon reflexes	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2		19
HP:0001315	HP:0001315	Reduced tendon reflexes	0	OTOG CL E G H	340990	8516	OMIM:614945	Deafness, autosomal recessive 18B		165
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		26
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	14
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD		37
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6		4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		169
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	169
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	75
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B		4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)		65
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B		65
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	65
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	66
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	46
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	59
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	62
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)		82
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B		82
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	82
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	106
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)		47
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	47
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)		99
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	99
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome		98
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent	98
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease		72
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease		45
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome		7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53		7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1		37
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types	.	6
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A		133
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4		4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4		186
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy		79
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness		79
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E		79
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A		79
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies		79
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies		79
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2		7
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4		244
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2		244
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay		244
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy		65
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy		65
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome		464
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome		464
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome		464
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2		221
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0001315	HP:0001315	Reduced tendon reflexes	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		36
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata		41
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII		6
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14		83
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease		69
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent	69
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function		54
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome		49
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5		49
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy		49
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5		49
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency		81
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form		81
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PSMC1 CL E G H	5700	9547	OMIM:620071			1
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		6
HP:0001315	HP:0001315	Reduced tendon reflexes	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome		150
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0001315	HP:0001315	Reduced tendon reflexes	0	REEP1 CL E G H	65055	25786	OMIM:620011			87
HP:0001315	HP:0001315	Reduced tendon reflexes	0	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB		87
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB		54
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11		26
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040282 - Frequent	37
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant		3
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		125
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent	125
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		125
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome		77
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency		9
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy		1200
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset		1200
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0001315	HP:0001315	Reduced tendon reflexes	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.	8
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease		8
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3		16
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2		180
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	70
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	357
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect		40
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome		5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21		5
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	144
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome		144
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2		6
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome		67
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0001315	HP:0001315	Reduced tendon reflexes	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	73
HP:0001315