Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031826	HP:0031826	Abnormal reflex	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0031826	HP:0031826	Abnormal reflex	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0031826	HP:0031826	Abnormal reflex	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0031826	HP:0031826	Abnormal reflex	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0031826	HP:0031826	Abnormal reflex	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0031826	HP:0031826	Abnormal reflex	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0031826	HP:0031826	Abnormal reflex	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0031826	HP:0031826	Abnormal reflex	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0031826	HP:0031826	Abnormal reflex	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0031826	HP:0031826	Abnormal reflex	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency			120
HP:0031826	HP:0031826	Abnormal reflex	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0031826	HP:0031826	Abnormal reflex	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0031826	HP:0031826	Abnormal reflex	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia			35
HP:0031826	HP:0031826	Abnormal reflex	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia			35
HP:0031826	HP:0031826	Abnormal reflex	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive			245
HP:0031826	HP:0031826	Abnormal reflex	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0031826	HP:0031826	Abnormal reflex	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0031826	HP:0031826	Abnormal reflex	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0031826	HP:0031826	Abnormal reflex	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0031826	HP:0031826	Abnormal reflex	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0031826	HP:0031826	Abnormal reflex	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0031826	HP:0031826	Abnormal reflex	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0031826	HP:0031826	Abnormal reflex	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0031826	HP:0031826	Abnormal reflex	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0031826	HP:0031826	Abnormal reflex	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0031826	HP:0031826	Abnormal reflex	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0031826	HP:0031826	Abnormal reflex	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0031826	HP:0031826	Abnormal reflex	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0031826	HP:0031826	Abnormal reflex	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0031826	HP:0031826	Abnormal reflex	0	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0031826	HP:0031826	Abnormal reflex	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0031826	HP:0031826	Abnormal reflex	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0031826	HP:0031826	Abnormal reflex	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0031826	HP:0031826	Abnormal reflex	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0031826	HP:0031826	Abnormal reflex	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0031826	HP:0031826	Abnormal reflex	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0031826	HP:0031826	Abnormal reflex	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0031826	HP:0031826	Abnormal reflex	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0031826	HP:0031826	Abnormal reflex	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0031826	HP:0031826	Abnormal reflex	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0031826	HP:0031826	Abnormal reflex	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia			25
HP:0031826	HP:0031826	Abnormal reflex	0	ADCY6 CL E G H	112	237	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			2
HP:0031826	HP:0031826	Abnormal reflex	0	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8			2
HP:0031826	HP:0031826	Abnormal reflex	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0031826	HP:0031826	Abnormal reflex	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0031826	HP:0031826	Abnormal reflex	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0031826	HP:0031826	Abnormal reflex	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0031826	HP:0031826	Abnormal reflex	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0031826	HP:0031826	Abnormal reflex	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0031826	HP:0031826	Abnormal reflex	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28			86
HP:0031826	HP:0031826	Abnormal reflex	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28			86
HP:0031826	HP:0031826	Abnormal reflex	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0031826	HP:0031826	Abnormal reflex	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0031826	HP:0031826	Abnormal reflex	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0031826	HP:0031826	Abnormal reflex	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0031826	HP:0031826	Abnormal reflex	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0031826	HP:0031826	Abnormal reflex	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0031826	HP:0031826	Abnormal reflex	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0031826	HP:0031826	Abnormal reflex	0	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5			60
HP:0031826	HP:0031826	Abnormal reflex	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0031826	HP:0031826	Abnormal reflex	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0031826	HP:0031826	Abnormal reflex	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0031826	HP:0031826	Abnormal reflex	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4			60
HP:0031826	HP:0031826	Abnormal reflex	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0031826	HP:0031826	Abnormal reflex	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0031826	HP:0031826	Abnormal reflex	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0031826	HP:0031826	Abnormal reflex	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0031826	HP:0031826	Abnormal reflex	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0031826	HP:0031826	Abnormal reflex	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0031826	HP:0031826	Abnormal reflex	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0031826	HP:0031826	Abnormal reflex	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA			89
HP:0031826	HP:0031826	Abnormal reflex	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0031826	HP:0031826	Abnormal reflex	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0031826	HP:0031826	Abnormal reflex	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0031826	HP:0031826	Abnormal reflex	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0031826	HP:0031826	Abnormal reflex	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0031826	HP:0031826	Abnormal reflex	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG			41
HP:0031826	HP:0031826	Abnormal reflex	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			12
HP:0031826	HP:0031826	Abnormal reflex	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0031826	HP:0031826	Abnormal reflex	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			46
HP:0031826	HP:0031826	Abnormal reflex	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0031826	HP:0031826	Abnormal reflex	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic			66
HP:0031826	HP:0031826	Abnormal reflex	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0031826	HP:0031826	Abnormal reflex	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0031826	HP:0031826	Abnormal reflex	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0031826	HP:0031826	Abnormal reflex	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis			114
HP:0031826	HP:0031826	Abnormal reflex	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0031826	HP:0031826	Abnormal reflex	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis			114
HP:0031826	HP:0031826	Abnormal reflex	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0031826	HP:0031826	Abnormal reflex	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0031826	HP:0031826	Abnormal reflex	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency			44
HP:0031826	HP:0031826	Abnormal reflex	0	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD			62
HP:0031826	HP:0031826	Abnormal reflex	0	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63			21
HP:0031826	HP:0031826	Abnormal reflex	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0031826	HP:0031826	Abnormal reflex	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0031826	HP:0031826	Abnormal reflex	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy			56
HP:0031826	HP:0031826	Abnormal reflex	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly			3
HP:0031826	HP:0031826	Abnormal reflex	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0031826	HP:0031826	Abnormal reflex	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10			64
HP:0031826	HP:0031826	Abnormal reflex	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031826	HP:0031826	Abnormal reflex	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0031826	HP:0031826	Abnormal reflex	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0031826	HP:0031826	Abnormal reflex	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0031826	HP:0031826	Abnormal reflex	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0031826	HP:0031826	Abnormal reflex	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0031826	HP:0031826	Abnormal reflex	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0031826	HP:0031826	Abnormal reflex	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0031826	HP:0031826	Abnormal reflex	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0031826	HP:0031826	Abnormal reflex	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0031826	HP:0031826	Abnormal reflex	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0031826	HP:0031826	Abnormal reflex	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0031826	HP:0031826	Abnormal reflex	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48			165
HP:0031826	HP:0031826	Abnormal reflex	0	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1			356
HP:0031826	HP:0031826	Abnormal reflex	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3			39
HP:0031826	HP:0031826	Abnormal reflex	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0031826	HP:0031826	Abnormal reflex	0	AR CL E G H	367	644	ORPHA:481	Kennedy disease			125
HP:0031826	HP:0031826	Abnormal reflex	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1			125
HP:0031826	HP:0031826	Abnormal reflex	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0031826	HP:0031826	Abnormal reflex	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0031826	HP:0031826	Abnormal reflex	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0031826	HP:0031826	Abnormal reflex	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0031826	HP:0031826	Abnormal reflex	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0031826	HP:0031826	Abnormal reflex	0	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61			1
HP:0031826	HP:0031826	Abnormal reflex	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive			1
HP:0031826	HP:0031826	Abnormal reflex	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0031826	HP:0031826	Abnormal reflex	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0031826	HP:0031826	Abnormal reflex	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0031826	HP:0031826	Abnormal reflex	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0031826	HP:0031826	Abnormal reflex	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66			1
HP:0031826	HP:0031826	Abnormal reflex	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0031826	HP:0031826	Abnormal reflex	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0031826	HP:0031826	Abnormal reflex	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2			166
HP:0031826	HP:0031826	Abnormal reflex	0	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0031826	HP:0031826	Abnormal reflex	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0031826	HP:0031826	Abnormal reflex	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0031826	HP:0031826	Abnormal reflex	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0031826	HP:0031826	Abnormal reflex	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease			48
HP:0031826	HP:0031826	Abnormal reflex	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0031826	HP:0031826	Abnormal reflex	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly			512
HP:0031826	HP:0031826	Abnormal reflex	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia
HP:0031826	HP:0031826	Abnormal reflex	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4
HP:0031826	HP:0031826	Abnormal reflex	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0031826	HP:0031826	Abnormal reflex	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0031826	HP:0031826	Abnormal reflex	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID			71
HP:0031826	HP:0031826	Abnormal reflex	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0031826	HP:0031826	Abnormal reflex	0	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF			5
HP:0031826	HP:0031826	Abnormal reflex	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0031826	HP:0031826	Abnormal reflex	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy			16
HP:0031826	HP:0031826	Abnormal reflex	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0031826	HP:0031826	Abnormal reflex	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis			100
HP:0031826	HP:0031826	Abnormal reflex	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0031826	HP:0031826	Abnormal reflex	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0031826	HP:0031826	Abnormal reflex	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0031826	HP:0031826	Abnormal reflex	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0031826	HP:0031826	Abnormal reflex	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD			4
HP:0031826	HP:0031826	Abnormal reflex	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0031826	HP:0031826	Abnormal reflex	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0031826	HP:0031826	Abnormal reflex	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0031826	HP:0031826	Abnormal reflex	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0031826	HP:0031826	Abnormal reflex	0	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome			150
HP:0031826	HP:0031826	Abnormal reflex	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0031826	HP:0031826	Abnormal reflex	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0031826	HP:0031826	Abnormal reflex	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0031826	HP:0031826	Abnormal reflex	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0031826	HP:0031826	Abnormal reflex	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0031826	HP:0031826	Abnormal reflex	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0031826	HP:0031826	Abnormal reflex	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked			36
HP:0031826	HP:0031826	Abnormal reflex	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0031826	HP:0031826	Abnormal reflex	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome			36
HP:0031826	HP:0031826	Abnormal reflex	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3			3
HP:0031826	HP:0031826	Abnormal reflex	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0031826	HP:0031826	Abnormal reflex	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0031826	HP:0031826	Abnormal reflex	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0031826	HP:0031826	Abnormal reflex	0	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3			192
HP:0031826	HP:0031826	Abnormal reflex	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome			24
HP:0031826	HP:0031826	Abnormal reflex	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1			169
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0031826	HP:0031826	Abnormal reflex	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8			1
HP:0031826	HP:0031826	Abnormal reflex	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I			49
HP:0031826	HP:0031826	Abnormal reflex	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0031826	HP:0031826	Abnormal reflex	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0031826	HP:0031826	Abnormal reflex	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26			25
HP:0031826	HP:0031826	Abnormal reflex	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0031826	HP:0031826	Abnormal reflex	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0031826	HP:0031826	Abnormal reflex	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0031826	HP:0031826	Abnormal reflex	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0031826	HP:0031826	Abnormal reflex	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0031826	HP:0031826	Abnormal reflex	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0031826	HP:0031826	Abnormal reflex	0	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0031826	HP:0031826	Abnormal reflex	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0031826	HP:0031826	Abnormal reflex	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31			1
HP:0031826	HP:0031826	Abnormal reflex	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0031826	HP:0031826	Abnormal reflex	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0031826	HP:0031826	Abnormal reflex	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0031826	HP:0031826	Abnormal reflex	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0031826	HP:0031826	Abnormal reflex	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0031826	HP:0031826	Abnormal reflex	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0031826	HP:0031826	Abnormal reflex	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0031826	HP:0031826	Abnormal reflex	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0031826	HP:0031826	Abnormal reflex	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0031826	HP:0031826	Abnormal reflex	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0031826	HP:0031826	Abnormal reflex	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0031826	HP:0031826	Abnormal reflex	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0031826	HP:0031826	Abnormal reflex	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5			105
HP:0031826	HP:0031826	Abnormal reflex	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0031826	HP:0031826	Abnormal reflex	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C			105
HP:0031826	HP:0031826	Abnormal reflex	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0031826	HP:0031826	Abnormal reflex	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17			105
HP:0031826	HP:0031826	Abnormal reflex	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0031826	HP:0031826	Abnormal reflex	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0031826	HP:0031826	Abnormal reflex	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0031826	HP:0031826	Abnormal reflex	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0031826	HP:0031826	Abnormal reflex	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0031826	HP:0031826	Abnormal reflex	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0031826	HP:0031826	Abnormal reflex	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0031826	HP:0031826	Abnormal reflex	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0031826	HP:0031826	Abnormal reflex	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0031826	HP:0031826	Abnormal reflex	0	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome			8
HP:0031826	HP:0031826	Abnormal reflex	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0031826	HP:0031826	Abnormal reflex	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42			449
HP:0031826	HP:0031826	Abnormal reflex	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0031826	HP:0031826	Abnormal reflex	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0031826	HP:0031826	Abnormal reflex	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0031826	HP:0031826	Abnormal reflex	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0031826	HP:0031826	Abnormal reflex	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0031826	HP:0031826	Abnormal reflex	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0031826	HP:0031826	Abnormal reflex	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0031826	HP:0031826	Abnormal reflex	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0031826	HP:0031826	Abnormal reflex	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0031826	HP:0031826	Abnormal reflex	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0031826	HP:0031826	Abnormal reflex	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0031826	HP:0031826	Abnormal reflex	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76			4
HP:0031826	HP:0031826	Abnormal reflex	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0031826	HP:0031826	Abnormal reflex	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0031826	HP:0031826	Abnormal reflex	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0031826	HP:0031826	Abnormal reflex	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0031826	HP:0031826	Abnormal reflex	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia			118
HP:0031826	HP:0031826	Abnormal reflex	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0031826	HP:0031826	Abnormal reflex	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0031826	HP:0031826	Abnormal reflex	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40			54
HP:0031826	HP:0031826	Abnormal reflex	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40			54
HP:0031826	HP:0031826	Abnormal reflex	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0031826	HP:0031826	Abnormal reflex	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia			56
HP:0031826	HP:0031826	Abnormal reflex	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive			56
HP:0031826	HP:0031826	Abnormal reflex	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0031826	HP:0031826	Abnormal reflex	0	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy			3
HP:0031826	HP:0031826	Abnormal reflex	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0031826	HP:0031826	Abnormal reflex	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0031826	HP:0031826	Abnormal reflex	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0031826	HP:0031826	Abnormal reflex	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0031826	HP:0031826	Abnormal reflex	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly			181
HP:0031826	HP:0031826	Abnormal reflex	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly			6
HP:0031826	HP:0031826	Abnormal reflex	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0031826	HP:0031826	Abnormal reflex	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly			161
HP:0031826	HP:0031826	Abnormal reflex	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly			38
HP:0031826	HP:0031826	Abnormal reflex	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly			146
HP:0031826	HP:0031826	Abnormal reflex	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly			31
HP:0031826	HP:0031826	Abnormal reflex	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0031826	HP:0031826	Abnormal reflex	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0031826	HP:0031826	Abnormal reflex	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0031826	HP:0031826	Abnormal reflex	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0031826	HP:0031826	Abnormal reflex	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0031826	HP:0031826	Abnormal reflex	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0031826	HP:0031826	Abnormal reflex	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0031826	HP:0031826	Abnormal reflex	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0031826	HP:0031826	Abnormal reflex	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type			11
HP:0031826	HP:0031826	Abnormal reflex	0	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant			3
HP:0031826	HP:0031826	Abnormal reflex	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0031826	HP:0031826	Abnormal reflex	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0031826	HP:0031826	Abnormal reflex	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0031826	HP:0031826	Abnormal reflex	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0031826	HP:0031826	Abnormal reflex	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0031826	HP:0031826	Abnormal reflex	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0031826	HP:0031826	Abnormal reflex	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0031826	HP:0031826	Abnormal reflex	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0031826	HP:0031826	Abnormal reflex	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0031826	HP:0031826	Abnormal reflex	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly			15
HP:0031826	HP:0031826	Abnormal reflex	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive			15
HP:0031826	HP:0031826	Abnormal reflex	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0031826	HP:0031826	Abnormal reflex	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0031826	HP:0031826	Abnormal reflex	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0031826	HP:0031826	Abnormal reflex	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease			141
HP:0031826	HP:0031826	Abnormal reflex	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0031826	HP:0031826	Abnormal reflex	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10			7
HP:0031826	HP:0031826	Abnormal reflex	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0031826	HP:0031826	Abnormal reflex	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0031826	HP:0031826	Abnormal reflex	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0031826	HP:0031826	Abnormal reflex	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0031826	HP:0031826	Abnormal reflex	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease
HP:0031826	HP:0031826	Abnormal reflex	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0031826	HP:0031826	Abnormal reflex	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0031826	HP:0031826	Abnormal reflex	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0031826	HP:0031826	Abnormal reflex	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0031826	HP:0031826	Abnormal reflex	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0031826	HP:0031826	Abnormal reflex	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0031826	HP:0031826	Abnormal reflex	0	CNTNAP1 CL E G H	8506	8011	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			9
HP:0031826	HP:0031826	Abnormal reflex	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0031826	HP:0031826	Abnormal reflex	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0031826	HP:0031826	Abnormal reflex	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0031826	HP:0031826	Abnormal reflex	0	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1			518
HP:0031826	HP:0031826	Abnormal reflex	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0031826	HP:0031826	Abnormal reflex	0	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6			16
HP:0031826	HP:0031826	Abnormal reflex	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0031826	HP:0031826	Abnormal reflex	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0031826	HP:0031826	Abnormal reflex	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0031826	HP:0031826	Abnormal reflex	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0031826	HP:0031826	Abnormal reflex	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0031826	HP:0031826	Abnormal reflex	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0031826	HP:0031826	Abnormal reflex	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0031826	HP:0031826	Abnormal reflex	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0031826	HP:0031826	Abnormal reflex	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0031826	HP:0031826	Abnormal reflex	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0031826	HP:0031826	Abnormal reflex	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0031826	HP:0031826	Abnormal reflex	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0031826	HP:0031826	Abnormal reflex	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0031826	HP:0031826	Abnormal reflex	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0031826	HP:0031826	Abnormal reflex	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0031826	HP:0031826	Abnormal reflex	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0031826	HP:0031826	Abnormal reflex	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4			136
HP:0031826	HP:0031826	Abnormal reflex	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0031826	HP:0031826	Abnormal reflex	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0031826	HP:0031826	Abnormal reflex	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0031826	HP:0031826	Abnormal reflex	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0031826	HP:0031826	Abnormal reflex	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0031826	HP:0031826	Abnormal reflex	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0031826	HP:0031826	Abnormal reflex	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0031826	HP:0031826	Abnormal reflex	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0031826	HP:0031826	Abnormal reflex	0	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D			4
HP:0031826	HP:0031826	Abnormal reflex	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0031826	HP:0031826	Abnormal reflex	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0031826	HP:0031826	Abnormal reflex	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0031826	HP:0031826	Abnormal reflex	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant			1
HP:0031826	HP:0031826	Abnormal reflex	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8
HP:0031826	HP:0031826	Abnormal reflex	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0031826	HP:0031826	Abnormal reflex	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0031826	HP:0031826	Abnormal reflex	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0031826	HP:0031826	Abnormal reflex	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0031826	HP:0031826	Abnormal reflex	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0031826	HP:0031826	Abnormal reflex	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0031826	HP:0031826	Abnormal reflex	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0031826	HP:0031826	Abnormal reflex	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids			149
HP:0031826	HP:0031826	Abnormal reflex	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0031826	HP:0031826	Abnormal reflex	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9			2
HP:0031826	HP:0031826	Abnormal reflex	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13			20
HP:0031826	HP:0031826	Abnormal reflex	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0031826	HP:0031826	Abnormal reflex	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17			9
HP:0031826	HP:0031826	Abnormal reflex	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0031826	HP:0031826	Abnormal reflex	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0031826	HP:0031826	Abnormal reflex	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0031826	HP:0031826	Abnormal reflex	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0031826	HP:0031826	Abnormal reflex	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56			18
HP:0031826	HP:0031826	Abnormal reflex	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0031826	HP:0031826	Abnormal reflex	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0031826	HP:0031826	Abnormal reflex	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0031826	HP:0031826	Abnormal reflex	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0031826	HP:0031826	Abnormal reflex	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0031826	HP:0031826	Abnormal reflex	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0031826	HP:0031826	Abnormal reflex	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0031826	HP:0031826	Abnormal reflex	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0031826	HP:0031826	Abnormal reflex	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0031826	HP:0031826	Abnormal reflex	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital			80
HP:0031826	HP:0031826	Abnormal reflex	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant			2
HP:0031826	HP:0031826	Abnormal reflex	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0031826	HP:0031826	Abnormal reflex	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1			86
HP:0031826	HP:0031826	Abnormal reflex	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0031826	HP:0031826	Abnormal reflex	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0031826	HP:0031826	Abnormal reflex	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0031826	HP:0031826	Abnormal reflex	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28			35
HP:0031826	HP:0031826	Abnormal reflex	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive			35
HP:0031826	HP:0031826	Abnormal reflex	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0031826	HP:0031826	Abnormal reflex	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0031826	HP:0031826	Abnormal reflex	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0031826	HP:0031826	Abnormal reflex	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0031826	HP:0031826	Abnormal reflex	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0031826	HP:0031826	Abnormal reflex	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0031826	HP:0031826	Abnormal reflex	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0031826	HP:0031826	Abnormal reflex	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0031826	HP:0031826	Abnormal reflex	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0031826	HP:0031826	Abnormal reflex	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0031826	HP:0031826	Abnormal reflex	0	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY			21
HP:0031826	HP:0031826	Abnormal reflex	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome			21
HP:0031826	HP:0031826	Abnormal reflex	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q			12
HP:0031826	HP:0031826	Abnormal reflex	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0031826	HP:0031826	Abnormal reflex	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0031826	HP:0031826	Abnormal reflex	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0031826	HP:0031826	Abnormal reflex	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0031826	HP:0031826	Abnormal reflex	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0031826	HP:0031826	Abnormal reflex	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0031826	HP:0031826	Abnormal reflex	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0031826	HP:0031826	Abnormal reflex	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type			1496
HP:0031826	HP:0031826	Abnormal reflex	0	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5			30
HP:0031826	HP:0031826	Abnormal reflex	0	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0031826	HP:0031826	Abnormal reflex	0	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0031826	HP:0031826	Abnormal reflex	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0031826	HP:0031826	Abnormal reflex	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset			6
HP:0031826	HP:0031826	Abnormal reflex	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease			6
HP:0031826	HP:0031826	Abnormal reflex	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0031826	HP:0031826	Abnormal reflex	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0031826	HP:0031826	Abnormal reflex	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0031826	HP:0031826	Abnormal reflex	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0031826	HP:0031826	Abnormal reflex	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0031826	HP:0031826	Abnormal reflex	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0031826	HP:0031826	Abnormal reflex	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B			167
HP:0031826	HP:0031826	Abnormal reflex	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0031826	HP:0031826	Abnormal reflex	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0031826	HP:0031826	Abnormal reflex	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0031826	HP:0031826	Abnormal reflex	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant			145
HP:0031826	HP:0031826	Abnormal reflex	0	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0031826	HP:0031826	Abnormal reflex	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0031826	HP:0031826	Abnormal reflex	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0031826	HP:0031826	Abnormal reflex	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0031826	HP:0031826	Abnormal reflex	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			38
HP:0031826	HP:0031826	Abnormal reflex	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0031826	HP:0031826	Abnormal reflex	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0031826	HP:0031826	Abnormal reflex	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu			26
HP:0031826	HP:0031826	Abnormal reflex	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0031826	HP:0031826	Abnormal reflex	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0031826	HP:0031826	Abnormal reflex	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0031826	HP:0031826	Abnormal reflex	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23			13
HP:0031826	HP:0031826	Abnormal reflex	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0031826	HP:0031826	Abnormal reflex	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0031826	HP:0031826	Abnormal reflex	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0031826	HP:0031826	Abnormal reflex	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0031826	HP:0031826	Abnormal reflex	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0031826	HP:0031826	Abnormal reflex	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0031826	HP:0031826	Abnormal reflex	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13			427
HP:0031826	HP:0031826	Abnormal reflex	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0031826	HP:0031826	Abnormal reflex	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies			1
HP:0031826	HP:0031826	Abnormal reflex	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0031826	HP:0031826	Abnormal reflex	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0031826	HP:0031826	Abnormal reflex	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1			600
HP:0031826	HP:0031826	Abnormal reflex	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0031826	HP:0031826	Abnormal reflex	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0031826	HP:0031826	Abnormal reflex	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0031826	HP:0031826	Abnormal reflex	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26			4
HP:0031826	HP:0031826	Abnormal reflex	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0031826	HP:0031826	Abnormal reflex	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive			58
HP:0031826	HP:0031826	Abnormal reflex	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0031826	HP:0031826	Abnormal reflex	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome			8
HP:0031826	HP:0031826	Abnormal reflex	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0031826	HP:0031826	Abnormal reflex	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0031826	HP:0031826	Abnormal reflex	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0031826	HP:0031826	Abnormal reflex	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0031826	HP:0031826	Abnormal reflex	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0031826	HP:0031826	Abnormal reflex	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34			62
HP:0031826	HP:0031826	Abnormal reflex	0	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34			62
HP:0031826	HP:0031826	Abnormal reflex	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0031826	HP:0031826	Abnormal reflex	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0031826	HP:0031826	Abnormal reflex	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0031826	HP:0031826	Abnormal reflex	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0031826	HP:0031826	Abnormal reflex	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0031826	HP:0031826	Abnormal reflex	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0031826	HP:0031826	Abnormal reflex	0	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0031826	HP:0031826	Abnormal reflex	0	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0031826	HP:0031826	Abnormal reflex	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0031826	HP:0031826	Abnormal reflex	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0031826	HP:0031826	Abnormal reflex	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B			54
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0031826	HP:0031826	Abnormal reflex	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0031826	HP:0031826	Abnormal reflex	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0031826	HP:0031826	Abnormal reflex	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0031826	HP:0031826	Abnormal reflex	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0031826	HP:0031826	Abnormal reflex	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0031826	HP:0031826	Abnormal reflex	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis			18
HP:0031826	HP:0031826	Abnormal reflex	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0031826	HP:0031826	Abnormal reflex	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0031826	HP:0031826	Abnormal reflex	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0031826	HP:0031826	Abnormal reflex	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0031826	HP:0031826	Abnormal reflex	0	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0031826	HP:0031826	Abnormal reflex	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0031826	HP:0031826	Abnormal reflex	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B			38
HP:0031826	HP:0031826	Abnormal reflex	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0031826	HP:0031826	Abnormal reflex	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0031826	HP:0031826	Abnormal reflex	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0031826	HP:0031826	Abnormal reflex	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0031826	HP:0031826	Abnormal reflex	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0031826	HP:0031826	Abnormal reflex	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0031826	HP:0031826	Abnormal reflex	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome			135
HP:0031826	HP:0031826	Abnormal reflex	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0031826	HP:0031826	Abnormal reflex	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0031826	HP:0031826	Abnormal reflex	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0031826	HP:0031826	Abnormal reflex	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0031826	HP:0031826	Abnormal reflex	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0031826	HP:0031826	Abnormal reflex	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0031826	HP:0031826	Abnormal reflex	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0031826	HP:0031826	Abnormal reflex	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0031826	HP:0031826	Abnormal reflex	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0031826	HP:0031826	Abnormal reflex	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0031826	HP:0031826	Abnormal reflex	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0031826	HP:0031826	Abnormal reflex	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0031826	HP:0031826	Abnormal reflex	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0031826	HP:0031826	Abnormal reflex	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0031826	HP:0031826	Abnormal reflex	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0031826	HP:0031826	Abnormal reflex	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0031826	HP:0031826	Abnormal reflex	0	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive			36
HP:0031826	HP:0031826	Abnormal reflex	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0031826	HP:0031826	Abnormal reflex	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0031826	HP:0031826	Abnormal reflex	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0031826	HP:0031826	Abnormal reflex	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0031826	HP:0031826	Abnormal reflex	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0031826	HP:0031826	Abnormal reflex	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0031826	HP:0031826	Abnormal reflex	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0031826	HP:0031826	Abnormal reflex	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0031826	HP:0031826	Abnormal reflex	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset			36
HP:0031826	HP:0031826	Abnormal reflex	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome			36
HP:0031826	HP:0031826	Abnormal reflex	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0031826	HP:0031826	Abnormal reflex	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0031826	HP:0031826	Abnormal reflex	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0031826	HP:0031826	Abnormal reflex	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0031826	HP:0031826	Abnormal reflex	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0031826	HP:0031826	Abnormal reflex	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0031826	HP:0031826	Abnormal reflex	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe			68
HP:0031826	HP:0031826	Abnormal reflex	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant			68
HP:0031826	HP:0031826	Abnormal reflex	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0031826	HP:0031826	Abnormal reflex	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0031826	HP:0031826	Abnormal reflex	0	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome			61
HP:0031826	HP:0031826	Abnormal reflex	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0031826	HP:0031826	Abnormal reflex	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0031826	HP:0031826	Abnormal reflex	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0031826	HP:0031826	Abnormal reflex	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0031826	HP:0031826	Abnormal reflex	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0031826	HP:0031826	Abnormal reflex	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4			184
HP:0031826	HP:0031826	Abnormal reflex	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0031826	HP:0031826	Abnormal reflex	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0031826	HP:0031826	Abnormal reflex	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0031826	HP:0031826	Abnormal reflex	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4			197
HP:0031826	HP:0031826	Abnormal reflex	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0031826	HP:0031826	Abnormal reflex	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0031826	HP:0031826	Abnormal reflex	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0031826	HP:0031826	Abnormal reflex	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0031826	HP:0031826	Abnormal reflex	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0031826	HP:0031826	Abnormal reflex	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0031826	HP:0031826	Abnormal reflex	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0031826	HP:0031826	Abnormal reflex	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0031826	HP:0031826	Abnormal reflex	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0031826	HP:0031826	Abnormal reflex	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0031826	HP:0031826	Abnormal reflex	0	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia			105
HP:0031826	HP:0031826	Abnormal reflex	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0031826	HP:0031826	Abnormal reflex	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0031826	HP:0031826	Abnormal reflex	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0031826	HP:0031826	Abnormal reflex	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0031826	HP:0031826	Abnormal reflex	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0031826	HP:0031826	Abnormal reflex	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0031826	HP:0031826	Abnormal reflex	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0031826	HP:0031826	Abnormal reflex	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0031826	HP:0031826	Abnormal reflex	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0031826	HP:0031826	Abnormal reflex	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0031826	HP:0031826	Abnormal reflex	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0031826	HP:0031826	Abnormal reflex	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0031826	HP:0031826	Abnormal reflex	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0031826	HP:0031826	Abnormal reflex	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0031826	HP:0031826	Abnormal reflex	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0031826	HP:0031826	Abnormal reflex	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0031826	HP:0031826	Abnormal reflex	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0031826	HP:0031826	Abnormal reflex	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0031826	HP:0031826	Abnormal reflex	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0031826	HP:0031826	Abnormal reflex	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0031826	HP:0031826	Abnormal reflex	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0031826	HP:0031826	Abnormal reflex	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0031826	HP:0031826	Abnormal reflex	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0031826	HP:0031826	Abnormal reflex	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0031826	HP:0031826	Abnormal reflex	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0031826	HP:0031826	Abnormal reflex	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0031826	HP:0031826	Abnormal reflex	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0031826	HP:0031826	Abnormal reflex	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0031826	HP:0031826	Abnormal reflex	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0031826	HP:0031826	Abnormal reflex	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0031826	HP:0031826	Abnormal reflex	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0031826	HP:0031826	Abnormal reflex	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0031826	HP:0031826	Abnormal reflex	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0031826	HP:0031826	Abnormal reflex	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0031826	HP:0031826	Abnormal reflex	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0031826	HP:0031826	Abnormal reflex	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0031826	HP:0031826	Abnormal reflex	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0031826	HP:0031826	Abnormal reflex	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy			5
HP:0031826	HP:0031826	Abnormal reflex	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0031826	HP:0031826	Abnormal reflex	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0031826	HP:0031826	Abnormal reflex	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			108
HP:0031826	HP:0031826	Abnormal reflex	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0031826	HP:0031826	Abnormal reflex	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A			108
HP:0031826	HP:0031826	Abnormal reflex	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0031826	HP:0031826	Abnormal reflex	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27
HP:0031826	HP:0031826	Abnormal reflex	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0031826	HP:0031826	Abnormal reflex	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0031826	HP:0031826	Abnormal reflex	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0031826	HP:0031826	Abnormal reflex	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0031826	HP:0031826	Abnormal reflex	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0031826	HP:0031826	Abnormal reflex	0	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome			14
HP:0031826	HP:0031826	Abnormal reflex	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0031826	HP:0031826	Abnormal reflex	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0031826	HP:0031826	Abnormal reflex	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			128
HP:0031826	HP:0031826	Abnormal reflex	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0031826	HP:0031826	Abnormal reflex	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0031826	HP:0031826	Abnormal reflex	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0031826	HP:0031826	Abnormal reflex	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0031826	HP:0031826	Abnormal reflex	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1			107
HP:0031826	HP:0031826	Abnormal reflex	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0031826	HP:0031826	Abnormal reflex	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0031826	HP:0031826	Abnormal reflex	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0031826	HP:0031826	Abnormal reflex	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy			166
HP:0031826	HP:0031826	Abnormal reflex	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0031826	HP:0031826	Abnormal reflex	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia			63
HP:0031826	HP:0031826	Abnormal reflex	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia			46
HP:0031826	HP:0031826	Abnormal reflex	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0031826	HP:0031826	Abnormal reflex	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0031826	HP:0031826	Abnormal reflex	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0031826	HP:0031826	Abnormal reflex	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0031826	HP:0031826	Abnormal reflex	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0031826	HP:0031826	Abnormal reflex	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0031826	HP:0031826	Abnormal reflex	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0031826	HP:0031826	Abnormal reflex	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0031826	HP:0031826	Abnormal reflex	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0031826	HP:0031826	Abnormal reflex	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0031826	HP:0031826	Abnormal reflex	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0031826	HP:0031826	Abnormal reflex	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			34
HP:0031826	HP:0031826	Abnormal reflex	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0031826	HP:0031826	Abnormal reflex	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0031826	HP:0031826	Abnormal reflex	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0031826	HP:0031826	Abnormal reflex	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0031826	HP:0031826	Abnormal reflex	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0031826	HP:0031826	Abnormal reflex	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0031826	HP:0031826	Abnormal reflex	0	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F			12
HP:0031826	HP:0031826	Abnormal reflex	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0031826	HP:0031826	Abnormal reflex	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0031826	HP:0031826	Abnormal reflex	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0031826	HP:0031826	Abnormal reflex	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6			88
HP:0031826	HP:0031826	Abnormal reflex	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0031826	HP:0031826	Abnormal reflex	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia			18
HP:0031826	HP:0031826	Abnormal reflex	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C			18
HP:0031826	HP:0031826	Abnormal reflex	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49			4
HP:0031826	HP:0031826	Abnormal reflex	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0031826	HP:0031826	Abnormal reflex	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0031826	HP:0031826	Abnormal reflex	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0031826	HP:0031826	Abnormal reflex	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0031826	HP:0031826	Abnormal reflex	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0031826	HP:0031826	Abnormal reflex	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0031826	HP:0031826	Abnormal reflex	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0031826	HP:0031826	Abnormal reflex	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency			8
HP:0031826	HP:0031826	Abnormal reflex	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0031826	HP:0031826	Abnormal reflex	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0031826	HP:0031826	Abnormal reflex	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0031826	HP:0031826	Abnormal reflex	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0031826	HP:0031826	Abnormal reflex	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0031826	HP:0031826	Abnormal reflex	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0031826	HP:0031826	Abnormal reflex	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0031826	HP:0031826	Abnormal reflex	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0031826	HP:0031826	Abnormal reflex	0	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0031826	HP:0031826	Abnormal reflex	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0031826	HP:0031826	Abnormal reflex	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0031826	HP:0031826	Abnormal reflex	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0031826	HP:0031826	Abnormal reflex	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0031826	HP:0031826	Abnormal reflex	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0031826	HP:0031826	Abnormal reflex	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0031826	HP:0031826	Abnormal reflex	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0031826	HP:0031826	Abnormal reflex	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0031826	HP:0031826	Abnormal reflex	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0031826	HP:0031826	Abnormal reflex	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0031826	HP:0031826	Abnormal reflex	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0031826	HP:0031826	Abnormal reflex	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0031826	HP:0031826	Abnormal reflex	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0031826	HP:0031826	Abnormal reflex	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0031826	HP:0031826	Abnormal reflex	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0031826	HP:0031826	Abnormal reflex	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0031826	HP:0031826	Abnormal reflex	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0031826	HP:0031826	Abnormal reflex	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G			11
HP:0031826	HP:0031826	Abnormal reflex	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type			11
HP:0031826	HP:0031826	Abnormal reflex	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0031826	HP:0031826	Abnormal reflex	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0031826	HP:0031826	Abnormal reflex	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G			5
HP:0031826	HP:0031826	Abnormal reflex	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0031826	HP:0031826	Abnormal reflex	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0031826	HP:0031826	Abnormal reflex	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0031826	HP:0031826	Abnormal reflex	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency			76
HP:0031826	HP:0031826	Abnormal reflex	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0031826	HP:0031826	Abnormal reflex	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome			113
HP:0031826	HP:0031826	Abnormal reflex	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0031826	HP:0031826	Abnormal reflex	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0031826	HP:0031826	Abnormal reflex	0	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F			47
HP:0031826	HP:0031826	Abnormal reflex	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F			47
HP:0031826	HP:0031826	Abnormal reflex	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB			47
HP:0031826	HP:0031826	Abnormal reflex	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC			13
HP:0031826	HP:0031826	Abnormal reflex	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L			38
HP:0031826	HP:0031826	Abnormal reflex	0	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA			38
HP:0031826	HP:0031826	Abnormal reflex	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0031826	HP:0031826	Abnormal reflex	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0031826	HP:0031826	Abnormal reflex	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant			46
HP:0031826	HP:0031826	Abnormal reflex	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0031826	HP:0031826	Abnormal reflex	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0031826	HP:0031826	Abnormal reflex	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0031826	HP:0031826	Abnormal reflex	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0031826	HP:0031826	Abnormal reflex	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease			39
HP:0031826	HP:0031826	Abnormal reflex	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease			12
HP:0031826	HP:0031826	Abnormal reflex	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0031826	HP:0031826	Abnormal reflex	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease			12
HP:0031826	HP:0031826	Abnormal reflex	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0031826	HP:0031826	Abnormal reflex	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type			98
HP:0031826	HP:0031826	Abnormal reflex	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0031826	HP:0031826	Abnormal reflex	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0031826	HP:0031826	Abnormal reflex	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0031826	HP:0031826	Abnormal reflex	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive			16
HP:0031826	HP:0031826	Abnormal reflex	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0031826	HP:0031826	Abnormal reflex	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0031826	HP:0031826	Abnormal reflex	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0031826	HP:0031826	Abnormal reflex	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0031826	HP:0031826	Abnormal reflex	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0031826	HP:0031826	Abnormal reflex	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0031826	HP:0031826	Abnormal reflex	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0031826	HP:0031826	Abnormal reflex	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0031826	HP:0031826	Abnormal reflex	0	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S			209
HP:0031826	HP:0031826	Abnormal reflex	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0031826	HP:0031826	Abnormal reflex	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0031826	HP:0031826	Abnormal reflex	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0031826	HP:0031826	Abnormal reflex	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0031826	HP:0031826	Abnormal reflex	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0031826	HP:0031826	Abnormal reflex	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0031826	HP:0031826	Abnormal reflex	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0031826	HP:0031826	Abnormal reflex	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0031826	HP:0031826	Abnormal reflex	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0031826	HP:0031826	Abnormal reflex	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E			135
HP:0031826	HP:0031826	Abnormal reflex	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0031826	HP:0031826	Abnormal reflex	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0031826	HP:0031826	Abnormal reflex	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0031826	HP:0031826	Abnormal reflex	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0031826	HP:0031826	Abnormal reflex	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0031826	HP:0031826	Abnormal reflex	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5			1
HP:0031826	HP:0031826	Abnormal reflex	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0031826	HP:0031826	Abnormal reflex	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0031826	HP:0031826	Abnormal reflex	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0031826	HP:0031826	Abnormal reflex	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15			177
HP:0031826	HP:0031826	Abnormal reflex	0	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16			177
HP:0031826	HP:0031826	Abnormal reflex	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0031826	HP:0031826	Abnormal reflex	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0031826	HP:0031826	Abnormal reflex	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0031826	HP:0031826	Abnormal reflex	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0031826	HP:0031826	Abnormal reflex	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0031826	HP:0031826	Abnormal reflex	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			1
HP:0031826	HP:0031826	Abnormal reflex	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2			2
HP:0031826	HP:0031826	Abnormal reflex	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2			2
HP:0031826	HP:0031826	Abnormal reflex	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0031826	HP:0031826	Abnormal reflex	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0031826	HP:0031826	Abnormal reflex	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0031826	HP:0031826	Abnormal reflex	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1			145
HP:0031826	HP:0031826	Abnormal reflex	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0031826	HP:0031826	Abnormal reflex	0	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0031826	HP:0031826	Abnormal reflex	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0031826	HP:0031826	Abnormal reflex	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0031826	HP:0031826	Abnormal reflex	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13			17
HP:0031826	HP:0031826	Abnormal reflex	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0031826	HP:0031826	Abnormal reflex	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0031826	HP:0031826	Abnormal reflex	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0031826	HP:0031826	Abnormal reflex	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2			10
HP:0031826	HP:0031826	Abnormal reflex	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome			3
HP:0031826	HP:0031826	Abnormal reflex	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0031826	HP:0031826	Abnormal reflex	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0031826	HP:0031826	Abnormal reflex	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy			528
HP:0031826	HP:0031826	Abnormal reflex	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy			302
HP:0031826	HP:0031826	Abnormal reflex	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14			321
HP:0031826	HP:0031826	Abnormal reflex	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0031826	HP:0031826	Abnormal reflex	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0031826	HP:0031826	Abnormal reflex	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation			81
HP:0031826	HP:0031826	Abnormal reflex	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0031826	HP:0031826	Abnormal reflex	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0031826	HP:0031826	Abnormal reflex	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0031826	HP:0031826	Abnormal reflex	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly			9
HP:0031826	HP:0031826	Abnormal reflex	0	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30			276
HP:0031826	HP:0031826	Abnormal reflex	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0031826	HP:0031826	Abnormal reflex	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0031826	HP:0031826	Abnormal reflex	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0031826	HP:0031826	Abnormal reflex	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0031826	HP:0031826	Abnormal reflex	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive			276
HP:0031826	HP:0031826	Abnormal reflex	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1			202
HP:0031826	HP:0031826	Abnormal reflex	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0031826	HP:0031826	Abnormal reflex	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive			38
HP:0031826	HP:0031826	Abnormal reflex	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0031826	HP:0031826	Abnormal reflex	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant			93
HP:0031826	HP:0031826	Abnormal reflex	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0031826	HP:0031826	Abnormal reflex	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0031826	HP:0031826	Abnormal reflex	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0031826	HP:0031826	Abnormal reflex	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0031826	HP:0031826	Abnormal reflex	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0031826	HP:0031826	Abnormal reflex	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0031826	HP:0031826	Abnormal reflex	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0031826	HP:0031826	Abnormal reflex	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0031826	HP:0031826	Abnormal reflex	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly			112
HP:0031826	HP:0031826	Abnormal reflex	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0031826	HP:0031826	Abnormal reflex	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome			196
HP:0031826	HP:0031826	Abnormal reflex	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0031826	HP:0031826	Abnormal reflex	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0031826	HP:0031826	Abnormal reflex	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome			134
HP:0031826	HP:0031826	Abnormal reflex	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0031826	HP:0031826	Abnormal reflex	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0031826	HP:0031826	Abnormal reflex	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0031826	HP:0031826	Abnormal reflex	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0031826	HP:0031826	Abnormal reflex	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0031826	HP:0031826	Abnormal reflex	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0031826	HP:0031826	Abnormal reflex	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6			136
HP:0031826	HP:0031826	Abnormal reflex	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0031826	HP:0031826	Abnormal reflex	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0031826	HP:0031826	Abnormal reflex	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0031826	HP:0031826	Abnormal reflex	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0031826	HP:0031826	Abnormal reflex	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4			286
HP:0031826	HP:0031826	Abnormal reflex	0	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0031826	HP:0031826	Abnormal reflex	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0031826	HP:0031826	Abnormal reflex	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0031826	HP:0031826	Abnormal reflex	0	LGI4 CL E G H	163175	18712	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome			6
HP:0031826	HP:0031826	Abnormal reflex	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0031826	HP:0031826	Abnormal reflex	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0031826	HP:0031826	Abnormal reflex	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0031826	HP:0031826	Abnormal reflex	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0031826	HP:0031826	Abnormal reflex	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0031826	HP:0031826	Abnormal reflex	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C			74
HP:0031826	HP:0031826	Abnormal reflex	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0031826	HP:0031826	Abnormal reflex	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0031826	HP:0031826	Abnormal reflex	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0031826	HP:0031826	Abnormal reflex	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1			645
HP:0031826	HP:0031826	Abnormal reflex	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0031826	HP:0031826	Abnormal reflex	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0031826	HP:0031826	Abnormal reflex	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0031826	HP:0031826	Abnormal reflex	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0031826	HP:0031826	Abnormal reflex	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent			95
HP:0031826	HP:0031826	Abnormal reflex	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0031826	HP:0031826	Abnormal reflex	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0031826	HP:0031826	Abnormal reflex	0	LRP4 CL E G H	4038	6696	OMIM:616304	Myasthenic syndrome, congenital, 17			124
HP:0031826	HP:0031826	Abnormal reflex	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0031826	HP:0031826	Abnormal reflex	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0031826	HP:0031826	Abnormal reflex	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease			221
HP:0031826	HP:0031826	Abnormal reflex	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P			102
HP:0031826	HP:0031826	Abnormal reflex	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0031826	HP:0031826	Abnormal reflex	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0031826	HP:0031826	Abnormal reflex	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0031826	HP:0031826	Abnormal reflex	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0031826	HP:0031826	Abnormal reflex	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75			4
HP:0031826	HP:0031826	Abnormal reflex	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0031826	HP:0031826	Abnormal reflex	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0031826	HP:0031826	Abnormal reflex	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0031826	HP:0031826	Abnormal reflex	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0031826	HP:0031826	Abnormal reflex	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0031826	HP:0031826	Abnormal reflex	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0031826	HP:0031826	Abnormal reflex	0	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia			140
HP:0031826	HP:0031826	Abnormal reflex	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain			140
HP:0031826	HP:0031826	Abnormal reflex	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0031826	HP:0031826	Abnormal reflex	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0031826	HP:0031826	Abnormal reflex	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy			25
HP:0031826	HP:0031826	Abnormal reflex	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive			25
HP:0031826	HP:0031826	Abnormal reflex	0	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY			82
HP:0031826	HP:0031826	Abnormal reflex	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0031826	HP:0031826	Abnormal reflex	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0031826	HP:0031826	Abnormal reflex	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57			5
HP:0031826	HP:0031826	Abnormal reflex	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0031826	HP:0031826	Abnormal reflex	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency			77
HP:0031826	HP:0031826	Abnormal reflex	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0031826	HP:0031826	Abnormal reflex	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0031826	HP:0031826	Abnormal reflex	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0031826	HP:0031826	Abnormal reflex	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0031826	HP:0031826	Abnormal reflex	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly			155
HP:0031826	HP:0031826	Abnormal reflex	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0031826	HP:0031826	Abnormal reflex	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations			950
HP:0031826	HP:0031826	Abnormal reflex	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0031826	HP:0031826	Abnormal reflex	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0031826	HP:0031826	Abnormal reflex	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0031826	HP:0031826	Abnormal reflex	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy			23
HP:0031826	HP:0031826	Abnormal reflex	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0031826	HP:0031826	Abnormal reflex	0	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2			43
HP:0031826	HP:0031826	Abnormal reflex	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0031826	HP:0031826	Abnormal reflex	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0031826	HP:0031826	Abnormal reflex	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0031826	HP:0031826	Abnormal reflex	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0031826	HP:0031826	Abnormal reflex	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0031826	HP:0031826	Abnormal reflex	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0031826	HP:0031826	Abnormal reflex	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0031826	HP:0031826	Abnormal reflex	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0031826	HP:0031826	Abnormal reflex	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0031826	HP:0031826	Abnormal reflex	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0031826	HP:0031826	Abnormal reflex	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0031826	HP:0031826	Abnormal reflex	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly			5
HP:0031826	HP:0031826	Abnormal reflex	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0031826	HP:0031826	Abnormal reflex	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0031826	HP:0031826	Abnormal reflex	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0031826	HP:0031826	Abnormal reflex	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0031826	HP:0031826	Abnormal reflex	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0031826	HP:0031826	Abnormal reflex	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0031826	HP:0031826	Abnormal reflex	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0031826	HP:0031826	Abnormal reflex	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T			18
HP:0031826	HP:0031826	Abnormal reflex	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0031826	HP:0031826	Abnormal reflex	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0031826	HP:0031826	Abnormal reflex	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0031826	HP:0031826	Abnormal reflex	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0031826	HP:0031826	Abnormal reflex	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0031826	HP:0031826	Abnormal reflex	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0031826	HP:0031826	Abnormal reflex	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0031826	HP:0031826	Abnormal reflex	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0031826	HP:0031826	Abnormal reflex	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0031826	HP:0031826	Abnormal reflex	0	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I			134
HP:0031826	HP:0031826	Abnormal reflex	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B			134
HP:0031826	HP:0031826	Abnormal reflex	0	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D			134
HP:0031826	HP:0031826	Abnormal reflex	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0031826	HP:0031826	Abnormal reflex	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0031826	HP:0031826	Abnormal reflex	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0031826	HP:0031826	Abnormal reflex	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0031826	HP:0031826	Abnormal reflex	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			134
HP:0031826	HP:0031826	Abnormal reflex	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0031826	HP:0031826	Abnormal reflex	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1			532
HP:0031826	HP:0031826	Abnormal reflex	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0031826	HP:0031826	Abnormal reflex	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0031826	HP:0031826	Abnormal reflex	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0031826	HP:0031826	Abnormal reflex	0	MSTN CL E G H	2660	4223	OMIM:614160	MUSCLE HYPERTROPHY; MSLHP			34
HP:0031826	HP:0031826	Abnormal reflex	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0031826	HP:0031826	Abnormal reflex	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0031826	HP:0031826	Abnormal reflex	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0031826	HP:0031826	Abnormal reflex	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0031826	HP:0031826	Abnormal reflex	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0031826	HP:0031826	Abnormal reflex	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome			19
HP:0031826	HP:0031826	Abnormal reflex	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0031826	HP:0031826	Abnormal reflex	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0031826	HP:0031826	Abnormal reflex	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0031826	HP:0031826	Abnormal reflex	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0031826	HP:0031826	Abnormal reflex	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0031826	HP:0031826	Abnormal reflex	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0031826	HP:0031826	Abnormal reflex	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0031826	HP:0031826	Abnormal reflex	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0031826	HP:0031826	Abnormal reflex	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0031826	HP:0031826	Abnormal reflex	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0031826	HP:0031826	Abnormal reflex	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0031826	HP:0031826	Abnormal reflex	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0031826	HP:0031826	Abnormal reflex	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0031826	HP:0031826	Abnormal reflex	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0031826	HP:0031826	Abnormal reflex	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0031826	HP:0031826	Abnormal reflex	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0031826	HP:0031826	Abnormal reflex	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0031826	HP:0031826	Abnormal reflex	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0031826	HP:0031826	Abnormal reflex	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0031826	HP:0031826	Abnormal reflex	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body			75
HP:0031826	HP:0031826	Abnormal reflex	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0031826	HP:0031826	Abnormal reflex	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0031826	HP:0031826	Abnormal reflex	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0031826	HP:0031826	Abnormal reflex	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0031826	HP:0031826	Abnormal reflex	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0031826	HP:0031826	Abnormal reflex	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0031826	HP:0031826	Abnormal reflex	0	NAGLU CL E G H	4669	7632	OMIM:616491	Charcot-Marie-Tooth disease, axonal, type 2V			72
HP:0031826	HP:0031826	Abnormal reflex	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1			48
HP:0031826	HP:0031826	Abnormal reflex	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0031826	HP:0031826	Abnormal reflex	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0031826	HP:0031826	Abnormal reflex	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0031826	HP:0031826	Abnormal reflex	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0031826	HP:0031826	Abnormal reflex	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0031826	HP:0031826	Abnormal reflex	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0031826	HP:0031826	Abnormal reflex	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0031826	HP:0031826	Abnormal reflex	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0031826	HP:0031826	Abnormal reflex	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D			82
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12			7
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0031826	HP:0031826	Abnormal reflex	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0031826	HP:0031826	Abnormal reflex	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0031826	HP:0031826	Abnormal reflex	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0031826	HP:0031826	Abnormal reflex	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0031826	HP:0031826	Abnormal reflex	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0031826	HP:0031826	Abnormal reflex	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0031826	HP:0031826	Abnormal reflex	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1			24
HP:0031826	HP:0031826	Abnormal reflex	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC			24
HP:0031826	HP:0031826	Abnormal reflex	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E			118
HP:0031826	HP:0031826	Abnormal reflex	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0031826	HP:0031826	Abnormal reflex	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0031826	HP:0031826	Abnormal reflex	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0031826	HP:0031826	Abnormal reflex	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0031826	HP:0031826	Abnormal reflex	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24			101
HP:0031826	HP:0031826	Abnormal reflex	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0031826	HP:0031826	Abnormal reflex	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0031826	HP:0031826	Abnormal reflex	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0031826	HP:0031826	Abnormal reflex	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0031826	HP:0031826	Abnormal reflex	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0031826	HP:0031826	Abnormal reflex	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0031826	HP:0031826	Abnormal reflex	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6			117
HP:0031826	HP:0031826	Abnormal reflex	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0031826	HP:0031826	Abnormal reflex	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy			2
HP:0031826	HP:0031826	Abnormal reflex	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy			2
HP:0031826	HP:0031826	Abnormal reflex	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0031826	HP:0031826	Abnormal reflex	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0031826	HP:0031826	Abnormal reflex	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0031826	HP:0031826	Abnormal reflex	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease
HP:0031826	HP:0031826	Abnormal reflex	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0031826	HP:0031826	Abnormal reflex	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0031826	HP:0031826	Abnormal reflex	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0031826	HP:0031826	Abnormal reflex	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0031826	HP:0031826	Abnormal reflex	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0031826	HP:0031826	Abnormal reflex	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome			102
HP:0031826	HP:0031826	Abnormal reflex	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0031826	HP:0031826	Abnormal reflex	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0031826	HP:0031826	Abnormal reflex	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0031826	HP:0031826	Abnormal reflex	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0031826	HP:0031826	Abnormal reflex	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5			84
HP:0031826	HP:0031826	Abnormal reflex	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0031826	HP:0031826	Abnormal reflex	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive			15
HP:0031826	HP:0031826	Abnormal reflex	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0031826	HP:0031826	Abnormal reflex	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0031826	HP:0031826	Abnormal reflex	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0031826	HP:0031826	Abnormal reflex	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0031826	HP:0031826	Abnormal reflex	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0031826	HP:0031826	Abnormal reflex	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0031826	HP:0031826	Abnormal reflex	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0031826	HP:0031826	Abnormal reflex	0	OCLN CL E G H	100506658	8104	ORPHA:1229	Congenital intrauterine infection-like syndrome			23
HP:0031826	HP:0031826	Abnormal reflex	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0031826	HP:0031826	Abnormal reflex	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0031826	HP:0031826	Abnormal reflex	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0031826	HP:0031826	Abnormal reflex	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0031826	HP:0031826	Abnormal reflex	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0031826	HP:0031826	Abnormal reflex	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0031826	HP:0031826	Abnormal reflex	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0031826	HP:0031826	Abnormal reflex	0	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III			163
HP:0031826	HP:0031826	Abnormal reflex	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0031826	HP:0031826	Abnormal reflex	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2			19
HP:0031826	HP:0031826	Abnormal reflex	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0031826	HP:0031826	Abnormal reflex	0	OTOG CL E G H	340990	8516	OMIM:614945	Deafness, autosomal recessive 18B			165
HP:0031826	HP:0031826	Abnormal reflex	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria			641
HP:0031826	HP:0031826	Abnormal reflex	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0031826	HP:0031826	Abnormal reflex	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0031826	HP:0031826	Abnormal reflex	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0031826	HP:0031826	Abnormal reflex	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0031826	HP:0031826	Abnormal reflex	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0031826	HP:0031826	Abnormal reflex	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7			23
HP:0031826	HP:0031826	Abnormal reflex	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease			23
HP:0031826	HP:0031826	Abnormal reflex	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0031826	HP:0031826	Abnormal reflex	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0031826	HP:0031826	Abnormal reflex	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0031826	HP:0031826	Abnormal reflex	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome			3
HP:0031826	HP:0031826	Abnormal reflex	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0031826	HP:0031826	Abnormal reflex	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0031826	HP:0031826	Abnormal reflex	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0031826	HP:0031826	Abnormal reflex	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0031826	HP:0031826	Abnormal reflex	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0031826	HP:0031826	Abnormal reflex	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0031826	HP:0031826	Abnormal reflex	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0031826	HP:0031826	Abnormal reflex	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0031826	HP:0031826	Abnormal reflex	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0031826	HP:0031826	Abnormal reflex	0	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant			75
HP:0031826	HP:0031826	Abnormal reflex	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1			9
HP:0031826	HP:0031826	Abnormal reflex	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1			28
HP:0031826	HP:0031826	Abnormal reflex	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0031826	HP:0031826	Abnormal reflex	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency			37
HP:0031826	HP:0031826	Abnormal reflex	0	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD			37
HP:0031826	HP:0031826	Abnormal reflex	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6			4
HP:0031826	HP:0031826	Abnormal reflex	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0031826	HP:0031826	Abnormal reflex	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0031826	HP:0031826	Abnormal reflex	0	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy
HP:0031826	HP:0031826	Abnormal reflex	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23			52
HP:0031826	HP:0031826	Abnormal reflex	0	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23			52
HP:0031826	HP:0031826	Abnormal reflex	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0031826	HP:0031826	Abnormal reflex	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0031826	HP:0031826	Abnormal reflex	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0031826	HP:0031826	Abnormal reflex	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0031826	HP:0031826	Abnormal reflex	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0031826	HP:0031826	Abnormal reflex	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0031826	HP:0031826	Abnormal reflex	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0031826	HP:0031826	Abnormal reflex	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency			75
HP:0031826	HP:0031826	Abnormal reflex	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0031826	HP:0031826	Abnormal reflex	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0031826	HP:0031826	Abnormal reflex	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0031826	HP:0031826	Abnormal reflex	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0031826	HP:0031826	Abnormal reflex	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0031826	HP:0031826	Abnormal reflex	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0031826	HP:0031826	Abnormal reflex	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0031826	HP:0031826	Abnormal reflex	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0031826	HP:0031826	Abnormal reflex	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0031826	HP:0031826	Abnormal reflex	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0031826	HP:0031826	Abnormal reflex	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0031826	HP:0031826	Abnormal reflex	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0031826	HP:0031826	Abnormal reflex	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0031826	HP:0031826	Abnormal reflex	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0031826	HP:0031826	Abnormal reflex	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0031826	HP:0031826	Abnormal reflex	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0031826	HP:0031826	Abnormal reflex	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0031826	HP:0031826	Abnormal reflex	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0031826	HP:0031826	Abnormal reflex	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0031826	HP:0031826	Abnormal reflex	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0031826	HP:0031826	Abnormal reflex	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0031826	HP:0031826	Abnormal reflex	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0031826	HP:0031826	Abnormal reflex	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0031826	HP:0031826	Abnormal reflex	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0031826	HP:0031826	Abnormal reflex	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0031826	HP:0031826	Abnormal reflex	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0031826	HP:0031826	Abnormal reflex	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0031826	HP:0031826	Abnormal reflex	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0031826	HP:0031826	Abnormal reflex	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B			47
HP:0031826	HP:0031826	Abnormal reflex	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0031826	HP:0031826	Abnormal reflex	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0031826	HP:0031826	Abnormal reflex	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0031826	HP:0031826	Abnormal reflex	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0031826	HP:0031826	Abnormal reflex	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0031826	HP:0031826	Abnormal reflex	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0031826	HP:0031826	Abnormal reflex	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0031826	HP:0031826	Abnormal reflex	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0031826	HP:0031826	Abnormal reflex	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0031826	HP:0031826	Abnormal reflex	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67			20
HP:0031826	HP:0031826	Abnormal reflex	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0031826	HP:0031826	Abnormal reflex	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0031826	HP:0031826	Abnormal reflex	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0031826	HP:0031826	Abnormal reflex	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0031826	HP:0031826	Abnormal reflex	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0031826	HP:0031826	Abnormal reflex	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly			16
HP:0031826	HP:0031826	Abnormal reflex	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0031826	HP:0031826	Abnormal reflex	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0031826	HP:0031826	Abnormal reflex	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0031826	HP:0031826	Abnormal reflex	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0031826	HP:0031826	Abnormal reflex	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0031826	HP:0031826	Abnormal reflex	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0031826	HP:0031826	Abnormal reflex	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0031826	HP:0031826	Abnormal reflex	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0031826	HP:0031826	Abnormal reflex	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0031826	HP:0031826	Abnormal reflex	0	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0031826	HP:0031826	Abnormal reflex	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0031826	HP:0031826	Abnormal reflex	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0031826	HP:0031826	Abnormal reflex	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0031826	HP:0031826	Abnormal reflex	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0031826	HP:0031826	Abnormal reflex	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0031826	HP:0031826	Abnormal reflex	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0031826	HP:0031826	Abnormal reflex	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0031826	HP:0031826	Abnormal reflex	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0031826	HP:0031826	Abnormal reflex	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0031826	HP:0031826	Abnormal reflex	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3			11
HP:0031826	HP:0031826	Abnormal reflex	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0031826	HP:0031826	Abnormal reflex	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset			55
HP:0031826	HP:0031826	Abnormal reflex	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease			55
HP:0031826	HP:0031826	Abnormal reflex	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0031826	HP:0031826	Abnormal reflex	0	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types			6
HP:0031826	HP:0031826	Abnormal reflex	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0031826	HP:0031826	Abnormal reflex	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism			133
HP:0031826	HP:0031826	Abnormal reflex	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0031826	HP:0031826	Abnormal reflex	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0031826	HP:0031826	Abnormal reflex	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0031826	HP:0031826	Abnormal reflex	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0031826	HP:0031826	Abnormal reflex	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0031826	HP:0031826	Abnormal reflex	0	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12			119
HP:0031826	HP:0031826	Abnormal reflex	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0031826	HP:0031826	Abnormal reflex	0	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4			4
HP:0031826	HP:0031826	Abnormal reflex	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C			186
HP:0031826	HP:0031826	Abnormal reflex	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0031826	HP:0031826	Abnormal reflex	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0031826	HP:0031826	Abnormal reflex	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0031826	HP:0031826	Abnormal reflex	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0031826	HP:0031826	Abnormal reflex	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0031826	HP:0031826	Abnormal reflex	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0031826	HP:0031826	Abnormal reflex	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0031826	HP:0031826	Abnormal reflex	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0031826	HP:0031826	Abnormal reflex	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0031826	HP:0031826	Abnormal reflex	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0031826	HP:0031826	Abnormal reflex	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0031826	HP:0031826	Abnormal reflex	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness			79
HP:0031826	HP:0031826	Abnormal reflex	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A			79
HP:0031826	HP:0031826	Abnormal reflex	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0031826	HP:0031826	Abnormal reflex	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0031826	HP:0031826	Abnormal reflex	0	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies			79
HP:0031826	HP:0031826	Abnormal reflex	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0031826	HP:0031826	Abnormal reflex	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies			79
HP:0031826	HP:0031826	Abnormal reflex	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0031826	HP:0031826	Abnormal reflex	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			79
HP:0031826	HP:0031826	Abnormal reflex	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0031826	HP:0031826	Abnormal reflex	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0031826	HP:0031826	Abnormal reflex	0	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4			244
HP:0031826	HP:0031826	Abnormal reflex	0	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2			244
HP:0031826	HP:0031826	Abnormal reflex	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0031826	HP:0031826	Abnormal reflex	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0031826	HP:0031826	Abnormal reflex	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0031826	HP:0031826	Abnormal reflex	0	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39			103
HP:0031826	HP:0031826	Abnormal reflex	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0031826	HP:0031826	Abnormal reflex	0	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive			103
HP:0031826	HP:0031826	Abnormal reflex	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0031826	HP:0031826	Abnormal reflex	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0031826	HP:0031826	Abnormal reflex	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0031826	HP:0031826	Abnormal reflex	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0031826	HP:0031826	Abnormal reflex	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease			6
HP:0031826	HP:0031826	Abnormal reflex	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome			464
HP:0031826	HP:0031826	Abnormal reflex	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0031826	HP:0031826	Abnormal reflex	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0031826	HP:0031826	Abnormal reflex	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0031826	HP:0031826	Abnormal reflex	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0031826	HP:0031826	Abnormal reflex	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0031826	HP:0031826	Abnormal reflex	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome			464
HP:0031826	HP:0031826	Abnormal reflex	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0031826	HP:0031826	Abnormal reflex	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0031826	HP:0031826	Abnormal reflex	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0031826	HP:0031826	Abnormal reflex	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0031826	HP:0031826	Abnormal reflex	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0031826	HP:0031826	Abnormal reflex	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0031826	HP:0031826	Abnormal reflex	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0031826	HP:0031826	Abnormal reflex	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0031826	HP:0031826	Abnormal reflex	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0031826	HP:0031826	Abnormal reflex	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0031826	HP:0031826	Abnormal reflex	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0031826	HP:0031826	Abnormal reflex	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0031826	HP:0031826	Abnormal reflex	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0031826	HP:0031826	Abnormal reflex	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0031826	HP:0031826	Abnormal reflex	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0031826	HP:0031826	Abnormal reflex	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0031826	HP:0031826	Abnormal reflex	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0031826	HP:0031826	Abnormal reflex	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0031826	HP:0031826	Abnormal reflex	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0031826	HP:0031826	Abnormal reflex	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0031826	HP:0031826	Abnormal reflex	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0031826	HP:0031826	Abnormal reflex	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0031826	HP:0031826	Abnormal reflex	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0031826	HP:0031826	Abnormal reflex	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0031826	HP:0031826	Abnormal reflex	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0031826	HP:0031826	Abnormal reflex	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0031826	HP:0031826	Abnormal reflex	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0031826	HP:0031826	Abnormal reflex	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0031826	HP:0031826	Abnormal reflex	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0031826	HP:0031826	Abnormal reflex	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0031826	HP:0031826	Abnormal reflex	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12			5
HP:0031826	HP:0031826	Abnormal reflex	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12			5
HP:0031826	HP:0031826	Abnormal reflex	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0031826	HP:0031826	Abnormal reflex	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0031826	HP:0031826	Abnormal reflex	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0031826	HP:0031826	Abnormal reflex	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0031826	HP:0031826	Abnormal reflex	0	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII			6
HP:0031826	HP:0031826	Abnormal reflex	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0031826	HP:0031826	Abnormal reflex	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0031826	HP:0031826	Abnormal reflex	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease			1
HP:0031826	HP:0031826	Abnormal reflex	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0031826	HP:0031826	Abnormal reflex	0	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B			133
HP:0031826	HP:0031826	Abnormal reflex	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14			83
HP:0031826	HP:0031826	Abnormal reflex	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14			83
HP:0031826	HP:0031826	Abnormal reflex	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2			138
HP:0031826	HP:0031826	Abnormal reflex	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease			138
HP:0031826	HP:0031826	Abnormal reflex	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16			37
HP:0031826	HP:0031826	Abnormal reflex	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16			37
HP:0031826	HP:0031826	Abnormal reflex	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0031826	HP:0031826	Abnormal reflex	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome			69
HP:0031826	HP:0031826	Abnormal reflex	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0031826	HP:0031826	Abnormal reflex	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0031826	HP:0031826	Abnormal reflex	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0031826	HP:0031826	Abnormal reflex	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0031826	HP:0031826	Abnormal reflex	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0031826	HP:0031826	Abnormal reflex	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0031826	HP:0031826	Abnormal reflex	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0031826	HP:0031826	Abnormal reflex	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0031826	HP:0031826	Abnormal reflex	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0031826	HP:0031826	Abnormal reflex	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0031826	HP:0031826	Abnormal reflex	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1			25
HP:0031826	HP:0031826	Abnormal reflex	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0031826	HP:0031826	Abnormal reflex	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0031826	HP:0031826	Abnormal reflex	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0031826	HP:0031826	Abnormal reflex	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0031826	HP:0031826	Abnormal reflex	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5			49
HP:0031826	HP:0031826	Abnormal reflex	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0031826	HP:0031826	Abnormal reflex	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0031826	HP:0031826	Abnormal reflex	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			94
HP:0031826	HP:0031826	Abnormal reflex	0	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1			73
HP:0031826	HP:0031826	Abnormal reflex	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0031826	HP:0031826	Abnormal reflex	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0031826	HP:0031826	Abnormal reflex	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0031826	HP:0031826	Abnormal reflex	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0031826	HP:0031826	Abnormal reflex	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency			81
HP:0031826	HP:0031826	Abnormal reflex	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0031826	HP:0031826	Abnormal reflex	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0031826	HP:0031826	Abnormal reflex	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0031826	HP:0031826	Abnormal reflex	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0031826	HP:0031826	Abnormal reflex	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0031826	HP:0031826	Abnormal reflex	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0031826	HP:0031826	Abnormal reflex	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0031826	HP:0031826	Abnormal reflex	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3			241
HP:0031826	HP:0031826	Abnormal reflex	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0031826	HP:0031826	Abnormal reflex	0	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia			241
HP:0031826	HP:0031826	Abnormal reflex	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain			241
HP:0031826	HP:0031826	Abnormal reflex	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0031826	HP:0031826	Abnormal reflex	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0031826	HP:0031826	Abnormal reflex	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0031826	HP:0031826	Abnormal reflex	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0031826	HP:0031826	Abnormal reflex	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency			19
HP:0031826	HP:0031826	Abnormal reflex	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A			19
HP:0031826	HP:0031826	Abnormal reflex	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly			11
HP:0031826	HP:0031826	Abnormal reflex	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0031826	HP:0031826	Abnormal reflex	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0031826	HP:0031826	Abnormal reflex	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0031826	HP:0031826	Abnormal reflex	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0031826	HP:0031826	Abnormal reflex	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0031826	HP:0031826	Abnormal reflex	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0031826	HP:0031826	Abnormal reflex	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0031826	HP:0031826	Abnormal reflex	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0031826	HP:0031826	Abnormal reflex	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0031826	HP:0031826	Abnormal reflex	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0031826	HP:0031826	Abnormal reflex	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0031826	HP:0031826	Abnormal reflex	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0031826	HP:0031826	Abnormal reflex	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0031826	HP:0031826	Abnormal reflex	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0031826	HP:0031826	Abnormal reflex	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0031826	HP:0031826	Abnormal reflex	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0031826	HP:0031826	Abnormal reflex	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0031826	HP:0031826	Abnormal reflex	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0031826	HP:0031826	Abnormal reflex	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0031826	HP:0031826	Abnormal reflex	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0031826	HP:0031826	Abnormal reflex	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0031826	HP:0031826	Abnormal reflex	0	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0031826	HP:0031826	Abnormal reflex	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31			87
HP:0031826	HP:0031826	Abnormal reflex	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5			87
HP:0031826	HP:0031826	Abnormal reflex	0	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB			87
HP:0031826	HP:0031826	Abnormal reflex	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant			87
HP:0031826	HP:0031826	Abnormal reflex	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive			3
HP:0031826	HP:0031826	Abnormal reflex	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0031826	HP:0031826	Abnormal reflex	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0031826	HP:0031826	Abnormal reflex	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0031826	HP:0031826	Abnormal reflex	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0031826	HP:0031826	Abnormal reflex	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0031826	HP:0031826	Abnormal reflex	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0031826	HP:0031826	Abnormal reflex	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0031826	HP:0031826	Abnormal reflex	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0031826	HP:0031826	Abnormal reflex	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0031826	HP:0031826	Abnormal reflex	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome			7
HP:0031826	HP:0031826	Abnormal reflex	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0031826	HP:0031826	Abnormal reflex	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0031826	HP:0031826	Abnormal reflex	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0031826	HP:0031826	Abnormal reflex	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0031826	HP:0031826	Abnormal reflex	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0031826	HP:0031826	Abnormal reflex	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0031826	HP:0031826	Abnormal reflex	0	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant			3
HP:0031826	HP:0031826	Abnormal reflex	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0031826	HP:0031826	Abnormal reflex	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0031826	HP:0031826	Abnormal reflex	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0031826	HP:0031826	Abnormal reflex	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0031826	HP:0031826	Abnormal reflex	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0031826	HP:0031826	Abnormal reflex	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0031826	HP:0031826	Abnormal reflex	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0031826	HP:0031826	Abnormal reflex	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0031826	HP:0031826	Abnormal reflex	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0031826	HP:0031826	Abnormal reflex	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0031826	HP:0031826	Abnormal reflex	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0031826	HP:0031826	Abnormal reflex	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0031826	HP:0031826	Abnormal reflex	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0031826	HP:0031826	Abnormal reflex	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome			125
HP:0031826	HP:0031826	Abnormal reflex	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0031826	HP:0031826	Abnormal reflex	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0031826	HP:0031826	Abnormal reflex	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0031826	HP:0031826	Abnormal reflex	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant			25
HP:0031826	HP:0031826	Abnormal reflex	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0031826	HP:0031826	Abnormal reflex	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0031826	HP:0031826	Abnormal reflex	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0031826	HP:0031826	Abnormal reflex	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0031826	HP:0031826	Abnormal reflex	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0031826	HP:0031826	Abnormal reflex	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy			1200
HP:0031826	HP:0031826	Abnormal reflex	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0031826	HP:0031826	Abnormal reflex	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0031826	HP:0031826	Abnormal reflex	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0031826	HP:0031826	Abnormal reflex	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement			1200
HP:0031826	HP:0031826	Abnormal reflex	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0031826	HP:0031826	Abnormal reflex	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0031826	HP:0031826	Abnormal reflex	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0031826	HP:0031826	Abnormal reflex	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0031826	HP:0031826	Abnormal reflex	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome			4
HP:0031826	HP:0031826	Abnormal reflex	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0031826	HP:0031826	Abnormal reflex	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease			8
HP:0031826	HP:0031826	Abnormal reflex	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0031826	HP:0031826	Abnormal reflex	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly			4
HP:0031826	HP:0031826	Abnormal reflex	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0031826	HP:0031826	Abnormal reflex	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0031826	HP:0031826	Abnormal reflex	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0031826	HP:0031826	Abnormal reflex	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0031826	HP:0031826	Abnormal reflex	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0031826	HP:0031826	Abnormal reflex	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0031826	HP:0031826	Abnormal reflex	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0031826	HP:0031826	Abnormal reflex	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0031826	HP:0031826	Abnormal reflex	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0031826	HP:0031826	Abnormal reflex	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0031826	HP:0031826	Abnormal reflex	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0031826	HP:0031826	Abnormal reflex	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0031826	HP:0031826	Abnormal reflex	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0031826	HP:0031826	Abnormal reflex	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0031826	HP:0031826	Abnormal reflex	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0031826	HP:0031826	Abnormal reflex	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0031826	HP:0031826	Abnormal reflex	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0031826	HP:0031826	Abnormal reflex	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0031826	HP:0031826	Abnormal reflex	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0031826	HP:0031826	Abnormal reflex	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0031826	HP:0031826	Abnormal reflex	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0031826	HP:0031826	Abnormal reflex	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0031826	HP:0031826	Abnormal reflex	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0031826	HP:0031826	Abnormal reflex	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0031826	HP:0031826	Abnormal reflex	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0031826	HP:0031826	Abnormal reflex	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0031826	HP:0031826	Abnormal reflex	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0031826	HP:0031826	Abnormal reflex	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0031826	HP:0031826	Abnormal reflex	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0031826	HP:0031826	Abnormal reflex	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0031826	HP:0031826	Abnormal reflex	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0031826	HP:0031826	Abnormal reflex	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0031826	HP:0031826	Abnormal reflex	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0031826	HP:0031826	Abnormal reflex	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0031826	HP:0031826	Abnormal reflex	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile			162
HP:0031826	HP:0031826	Abnormal reflex	0	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4			162
HP:0031826	HP:0031826	Abnormal reflex	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0031826	HP:0031826	Abnormal reflex	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0031826	HP:0031826	Abnormal reflex	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0031826	HP:0031826	Abnormal reflex	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0031826	HP:0031826	Abnormal reflex	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0031826	HP:0031826	Abnormal reflex	0	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile			6
HP:0031826	HP:0031826	Abnormal reflex	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0031826	HP:0031826	Abnormal reflex	0	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2			6
HP:0031826	HP:0031826	Abnormal reflex	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy			11
HP:0031826	HP:0031826	Abnormal reflex	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0031826	HP:0031826	Abnormal reflex	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0031826	HP:0031826	Abnormal reflex	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0031826	HP:0031826	Abnormal reflex	0	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0031826	HP:0031826	Abnormal reflex	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0031826	HP:0031826	Abnormal reflex	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0031826	HP:0031826	Abnormal reflex	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0031826	HP:0031826	Abnormal reflex	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0031826	HP:0031826	Abnormal reflex	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0031826	HP:0031826	Abnormal reflex	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0031826	HP:0031826	Abnormal reflex	0	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome			110
HP:0031826	HP:0031826	Abnormal reflex	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0031826	HP:0031826	Abnormal reflex	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0031826	HP:0031826	Abnormal reflex	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0031826	HP:0031826	Abnormal reflex	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0031826	HP:0031826	Abnormal reflex	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0031826	HP:0031826	Abnormal reflex	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0031826	HP:0031826	Abnormal reflex	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0031826	HP:0031826	Abnormal reflex	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1			70
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic			28
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy			166
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0031826	HP:0031826	Abnormal reflex	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0031826	HP:0031826	Abnormal reflex	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0031826	HP:0031826	Abnormal reflex	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0031826	HP:0031826	Abnormal reflex	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9			255
HP:0031826	HP:0031826	Abnormal reflex	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0031826	HP:0031826	Abnormal reflex	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity			255
HP:0031826	HP:0031826	Abnormal reflex	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			255
HP:0031826	HP:0031826	Abnormal reflex	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0031826	HP:0031826	Abnormal reflex	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0031826	HP:0031826	Abnormal reflex	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42			48
HP:0031826	HP:0031826	Abnormal reflex	0	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant			48
HP:0031826	HP:0031826	Abnormal reflex	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0031826	HP:0031826	Abnormal reflex	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0031826	HP:0031826	Abnormal reflex	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0031826	HP:0031826	Abnormal reflex	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0031826	HP:0031826	Abnormal reflex	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0031826	HP:0031826	Abnormal reflex	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0031826	HP:0031826	Abnormal reflex	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0031826	HP:0031826	Abnormal reflex	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0031826	HP:0031826	Abnormal reflex	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0031826	HP:0031826	Abnormal reflex	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption			101
HP:0031826	HP:0031826	Abnormal reflex	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0031826	HP:0031826	Abnormal reflex	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0031826	HP:0031826	Abnormal reflex	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0031826	HP:0031826	Abnormal reflex	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0031826	HP:0031826	Abnormal reflex	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0031826	HP:0031826	Abnormal reflex	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA			9
HP:0031826	HP:0031826	Abnormal reflex	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0031826	HP:0031826	Abnormal reflex	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease			12
HP:0031826	HP:0031826	Abnormal reflex	0	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder			12
HP:0031826	HP:0031826	Abnormal reflex	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia			81
HP:0031826	HP:0031826	Abnormal reflex	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0031826	HP:0031826	Abnormal reflex	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0031826	HP:0031826	Abnormal reflex	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0031826	HP:0031826	Abnormal reflex	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0031826	HP:0031826	Abnormal reflex	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0031826	HP:0031826	Abnormal reflex	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0031826	HP:0031826	Abnormal reflex	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0031826	HP:0031826	Abnormal reflex	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0031826	HP:0031826	Abnormal reflex	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV			22
HP:0031826	HP:0031826	Abnormal reflex	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0031826	HP:0031826	Abnormal reflex	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0031826	HP:0031826	Abnormal reflex	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0031826	HP:0031826	Abnormal reflex	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0031826	HP:0031826	Abnormal reflex	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0031826	HP:0031826	Abnormal reflex	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0031826	HP:0031826	Abnormal reflex	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome			65
HP:0031826	HP:0031826	Abnormal reflex	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease			65
HP:0031826	HP:0031826	Abnormal reflex	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0031826	HP:0031826	Abnormal reflex	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0031826	HP:0031826	Abnormal reflex	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0031826	HP:0031826	Abnormal reflex	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0031826	HP:0031826	Abnormal reflex	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0031826	HP:0031826	Abnormal reflex	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0031826	HP:0031826	Abnormal reflex	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1			53
HP:0031826	HP:0031826	Abnormal reflex	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0031826	HP:0031826	Abnormal reflex	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0031826	HP:0031826	Abnormal reflex	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0031826	HP:0031826	Abnormal reflex	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0031826	HP:0031826	Abnormal reflex	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4			208
HP:0031826	HP:0031826	Abnormal reflex	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0031826	HP:0031826	Abnormal reflex	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0031826	HP:0031826	Abnormal reflex	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0031826	HP:0031826	Abnormal reflex	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0031826	HP:0031826	Abnormal reflex	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0031826	HP:0031826	Abnormal reflex	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0031826	HP:0031826	Abnormal reflex	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0031826	HP:0031826	Abnormal reflex	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0031826	HP:0031826	Abnormal reflex	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0031826	HP:0031826	Abnormal reflex	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21			28
HP:0031826	HP:0031826	Abnormal reflex	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0031826	HP:0031826	Abnormal reflex	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis			171
HP:0031826	HP:0031826	Abnormal reflex	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0031826	HP:0031826	Abnormal reflex	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0031826	HP:0031826	Abnormal reflex	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency			28
HP:0031826	HP:0031826	Abnormal reflex	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5			416
HP:0031826	HP:0031826	Abnormal reflex	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031826	HP:0031826	Abnormal reflex	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0031826	HP:0031826	Abnormal reflex	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5			126
HP:0031826	HP:0031826	Abnormal reflex	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14			126
HP:0031826	HP:0031826	Abnormal reflex	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0031826	HP:0031826	Abnormal reflex	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0031826	HP:0031826	Abnormal reflex	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0031826	HP:0031826	Abnormal reflex	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0031826	HP:0031826	Abnormal reflex	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0031826	HP:0031826	Abnormal reflex	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0031826	HP:0031826	Abnormal reflex	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0031826	HP:0031826	Abnormal reflex	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV			62
HP:0031826	HP:0031826	Abnormal reflex	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset			62
HP:0031826	HP:0031826	Abnormal reflex	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0031826	HP:0031826	Abnormal reflex	0	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15			41
HP:0031826	HP:0031826	Abnormal reflex	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0031826	HP:0031826	Abnormal reflex	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0031826	HP:0031826	Abnormal reflex	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy			14
HP:0031826	HP:0031826	Abnormal reflex	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0031826	HP:0031826	Abnormal reflex	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly			99
HP:0031826	HP:0031826	Abnormal reflex	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0031826	HP:0031826	Abnormal reflex	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0031826	HP:0031826	Abnormal reflex	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0031826	HP:0031826	Abnormal reflex	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0031826	HP:0031826	Abnormal reflex	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0031826	HP:0031826	Abnormal reflex	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0031826	HP:0031826	Abnormal reflex	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0031826	HP:0031826	Abnormal reflex	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0031826	HP:0031826	Abnormal reflex	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0031826	HP:0031826	Abnormal reflex	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0031826	HP:0031826	Abnormal reflex	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0031826	HP:0031826	Abnormal reflex	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0031826	HP:0031826	Abnormal reflex	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0031826	HP:0031826	Abnormal reflex	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0031826	HP:0031826	Abnormal reflex	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0031826	HP:0031826	Abnormal reflex	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0031826	HP:0031826	Abnormal reflex	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0031826	HP:0031826	Abnormal reflex	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0031826	HP:0031826	Abnormal reflex	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism			9
HP:0031826	HP:0031826	Abnormal reflex	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0031826	HP:0031826	Abnormal reflex	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease			9
HP:0031826	HP:0031826	Abnormal reflex	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic			4
HP:0031826	HP:0031826	Abnormal reflex	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0031826	HP:0031826	Abnormal reflex	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0031826	HP:0031826	Abnormal reflex	0	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18			123
HP:0031826	HP:0031826	Abnormal reflex	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0031826	HP:0031826	Abnormal reflex	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0031826	HP:0031826	Abnormal reflex	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0031826	HP:0031826	Abnormal reflex	0	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0031826	HP:0031826	Abnormal reflex	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly			2
HP:0031826	HP:0031826	Abnormal reflex	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0031826	HP:0031826	Abnormal reflex	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0031826	HP:0031826	Abnormal reflex	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0031826	HP:0031826	Abnormal reflex	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0031826	HP:0031826	Abnormal reflex	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0031826	HP:0031826	Abnormal reflex	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0031826	HP:0031826	Abnormal reflex	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0031826	HP:0031826	Abnormal reflex	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0031826	HP:0031826	Abnormal reflex	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0031826	HP:0031826	Abnormal reflex	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0031826	HP:0031826	Abnormal reflex	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0031826	HP:0031826	Abnormal reflex	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0031826	HP:0031826	Abnormal reflex	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0031826	HP:0031826	Abnormal reflex	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0031826	HP:0031826	Abnormal reflex	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0031826	HP:0031826	Abnormal reflex	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0031826	HP:0031826	Abnormal reflex	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0031826	HP:0031826	Abnormal reflex	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0031826	HP:0031826	Abnormal reflex	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0031826	HP:0031826	Abnormal reflex	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0031826	HP:0031826	Abnormal reflex	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G			78
HP:0031826	HP:0031826	Abnormal reflex	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24			76
HP:0031826	HP:0031826	Abnormal reflex	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0031826	HP:0031826	Abnormal reflex	0	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1			52
HP:0031826	HP:0031826	Abnormal reflex	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0031826	HP:0031826	Abnormal reflex	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0031826	HP:0031826	Abnormal reflex	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0031826	HP:0031826	Abnormal reflex	0	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57			18
HP:0031826	HP:0031826	Abnormal reflex	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0031826	HP:0031826	Abnormal reflex	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type			18
HP:0031826	HP:0031826	Abnormal reflex	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0031826	HP:0031826	Abnormal reflex	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0031826	HP:0031826	Abnormal reflex	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0031826	HP:0031826	Abnormal reflex	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0031826	HP:0031826	Abnormal reflex	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0031826	HP:0031826	Abnormal reflex	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0031826	HP:0031826	Abnormal reflex	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9			1
HP:0031826	HP:0031826	Abnormal reflex	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0031826	HP:0031826	Abnormal reflex	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0031826	HP:0031826	Abnormal reflex	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0031826	HP:0031826	Abnormal reflex	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0031826	HP:0031826	Abnormal reflex	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0031826	HP:0031826	Abnormal reflex	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0031826	HP:0031826	Abnormal reflex	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0031826	HP:0031826	Abnormal reflex	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0031826	HP:0031826	Abnormal reflex	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0031826	HP:0031826	Abnormal reflex	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0031826	HP:0031826	Abnormal reflex	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0031826	HP:0031826	Abnormal reflex	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0031826	HP:0031826	Abnormal reflex	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0031826	HP:0031826	Abnormal reflex	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0031826	HP:0031826	Abnormal reflex	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0031826	HP:0031826	Abnormal reflex	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0031826	HP:0031826	Abnormal reflex	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0031826	HP:0031826	Abnormal reflex	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS			2
HP:0031826	HP:0031826	Abnormal reflex	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0031826	HP:0031826	Abnormal reflex	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0031826	HP:0031826	Abnormal reflex	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0031826	HP:0031826	Abnormal reflex	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0031826	HP:0031826	Abnormal reflex	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0031826	HP:0031826	Abnormal reflex	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0031826	HP:0031826	Abnormal reflex	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0031826	HP:0031826	Abnormal reflex	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0031826	HP:0031826	Abnormal reflex	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0031826	HP:0031826	Abnormal reflex	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0031826	HP:0031826	Abnormal reflex	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0031826	HP:0031826	Abnormal reflex	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0031826	HP:0031826	Abnormal reflex	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0031826	HP:0031826	Abnormal reflex	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0031826	HP:0031826	Abnormal reflex	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0031826	HP:0031826	Abnormal reflex	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0031826	HP:0031826	Abnormal reflex	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0031826	HP:0031826	Abnormal reflex	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7			203
HP:0031826	HP:0031826	Abnormal reflex	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0031826	HP:0031826	Abnormal reflex	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68
HP:0031826	HP:0031826	Abnormal reflex	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0031826	HP:0031826	Abnormal reflex	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0031826	HP:0031826	Abnormal reflex	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0031826	HP:0031826	Abnormal reflex	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0031826	HP:0031826	Abnormal reflex	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0031826	HP:0031826	Abnormal reflex	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0031826	HP:0031826	Abnormal reflex	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0031826	HP:0031826	Abnormal reflex	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0031826	HP:0031826	Abnormal reflex	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0031826	HP:0031826	Abnormal reflex	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0031826	HP:0031826	Abnormal reflex	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0031826	HP:0031826	Abnormal reflex	0	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism			78
HP:0031826	HP:0031826	Abnormal reflex	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0031826	HP:0031826	Abnormal reflex	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0031826	HP:0031826	Abnormal reflex	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0031826	HP:0031826	Abnormal reflex	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0031826	HP:0031826	Abnormal reflex	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0031826	HP:0031826	Abnormal reflex	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0031826	HP:0031826	Abnormal reflex	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0031826	HP:0031826	Abnormal reflex	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0031826	HP:0031826	Abnormal reflex	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0031826	HP:0031826	Abnormal reflex	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0031826	HP:0031826	Abnormal reflex	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0031826	HP:0031826	Abnormal reflex	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0031826	HP:0031826	Abnormal reflex	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0031826	HP:0031826	Abnormal reflex	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0031826	HP:0031826	Abnormal reflex	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0031826	HP:0031826	Abnormal reflex	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0031826	HP:0031826	Abnormal reflex	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0031826	HP:0031826	Abnormal reflex	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0031826	HP:0031826	Abnormal reflex	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0031826	HP:0031826	Abnormal reflex	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0031826	HP:0031826	Abnormal reflex	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0031826	HP:0031826	Abnormal reflex	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0031826	HP:0031826	Abnormal reflex	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0031826	HP:0031826	Abnormal reflex	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B			84
HP:0031826	HP:0031826	Abnormal reflex	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0031826	HP:0031826	Abnormal reflex	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0031826	HP:0031826	Abnormal reflex	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0031826	HP:0031826	Abnormal reflex	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0031826	HP:0031826	Abnormal reflex	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0031826	HP:0031826	Abnormal reflex	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11			57
HP:0031826	HP:0031826	Abnormal reflex	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0031826	HP:0031826	Abnormal reflex	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0031826	HP:0031826	Abnormal reflex	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0031826	HP:0031826	Abnormal reflex	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0031826	HP:0031826	Abnormal reflex	0	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0031826	HP:0031826	Abnormal reflex	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0031826	HP:0031826	Abnormal reflex	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0031826	HP:0031826	Abnormal reflex	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0031826	HP:0031826	Abnormal reflex	0	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome			39
HP:0031826	HP:0031826	Abnormal reflex	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0031826	HP:0031826	Abnormal reflex	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0031826	HP:0031826	Abnormal reflex	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0031826	HP:0031826	Abnormal reflex	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0031826	HP:0031826	Abnormal reflex	0	TWNK CL E G H	56652	1160	ORPHA:1186	Infantile-onset spinocerebellar ataxia			113
HP:0031826	HP:0031826	Abnormal reflex	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)			113
HP:0031826	HP:0031826	Abnormal reflex	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5			113
HP:0031826	HP:0031826	Abnormal reflex	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0031826	HP:0031826	Abnormal reflex	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0031826	HP:0031826	Abnormal reflex	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0031826	HP:0031826	Abnormal reflex	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0031826	HP:0031826	Abnormal reflex	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0031826	HP:0031826	Abnormal reflex	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0031826	HP:0031826	Abnormal reflex	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0031826	HP:0031826	Abnormal reflex	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0031826	HP:0031826	Abnormal reflex	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0031826	HP:0031826	Abnormal reflex	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0031826	HP:0031826	Abnormal reflex	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0031826	HP:0031826	Abnormal reflex	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0031826	HP:0031826	Abnormal reflex	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0031826	HP:0031826	Abnormal reflex	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0031826	HP:0031826	Abnormal reflex	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0031826	HP:0031826	Abnormal reflex	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0031826	HP:0031826	Abnormal reflex	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0031826	HP:0031826	Abnormal reflex	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease			21
HP:0031826	HP:0031826	Abnormal reflex	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0031826	HP:0031826	Abnormal reflex	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0031826	HP:0031826	Abnormal reflex	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0031826	HP:0031826	Abnormal reflex	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0031826	HP:0031826	Abnormal reflex	0	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4			34
HP:0031826	HP:0031826	Abnormal reflex	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0031826	HP:0031826	Abnormal reflex	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0031826	HP:0031826	Abnormal reflex	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59			7
HP:0031826	HP:0031826	Abnormal reflex	0	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset			6
HP:0031826	HP:0031826	Abnormal reflex	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1			2
HP:0031826	HP:0031826	Abnormal reflex	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0031826	HP:0031826	Abnormal reflex	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0031826	HP:0031826	Abnormal reflex	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant			2
HP:0031826	HP:0031826	Abnormal reflex	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0031826	HP:0031826	Abnormal reflex	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0031826	HP:0031826	Abnormal reflex	0	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included			116
HP:0031826	HP:0031826	Abnormal reflex	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0031826	HP:0031826	Abnormal reflex	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0031826	HP:0031826	Abnormal reflex	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0031826	HP:0031826	Abnormal reflex	0	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y			63
HP:0031826	HP:0031826	Abnormal reflex	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0031826	HP:0031826	Abnormal reflex	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0031826	HP:0031826	Abnormal reflex	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1			111
HP:0031826	HP:0031826	Abnormal reflex	0	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome			111
HP:0031826	HP:0031826	Abnormal reflex	0	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0031826	HP:0031826	Abnormal reflex	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0031826	HP:0031826	Abnormal reflex	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0031826	HP:0031826	Abnormal reflex	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset			8
HP:0031826	HP:0031826	Abnormal reflex	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease			8
HP:0031826	HP:0031826	Abnormal reflex	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0031826	HP:0031826	Abnormal reflex	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0031826	HP:0031826	Abnormal reflex	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0031826	HP:0031826	Abnormal reflex	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0031826	HP:0031826	Abnormal reflex	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0031826	HP:0031826	Abnormal reflex	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0031826	HP:0031826	Abnormal reflex	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0031826	HP:0031826	Abnormal reflex	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0031826	HP:0031826	Abnormal reflex	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22			1
HP:0031826	HP:0031826	Abnormal reflex	0	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX
HP:0031826	HP:0031826	Abnormal reflex	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0031826	HP:0031826	Abnormal reflex	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0031826	HP:0031826	Abnormal reflex	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0031826	HP:0031826	Abnormal reflex	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0031826	HP:0031826	Abnormal reflex	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0031826	HP:0031826	Abnormal reflex	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly			224
HP:0031826	HP:0031826	Abnormal reflex	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0031826	HP:0031826	Abnormal reflex	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0031826	HP:0031826	Abnormal reflex	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0031826	HP:0031826	Abnormal reflex	0	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome			27
HP:0031826	HP:0031826	Abnormal reflex	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0031826	HP:0031826	Abnormal reflex	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0031826	HP:0031826	Abnormal reflex	0	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency			149
HP:0031826	HP:0031826	Abnormal reflex	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28			149
HP:0031826	HP:0031826	Abnormal reflex	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0031826	HP:0031826	Abnormal reflex	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0031826	HP:0031826	Abnormal reflex	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0031826	HP:0031826	Abnormal reflex	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0031826	HP:0031826	Abnormal reflex	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0031826	HP:0031826	Abnormal reflex	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0031826	HP:0031826	Abnormal reflex	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0031826	HP:0031826	Abnormal reflex	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0031826	HP:0031826	Abnormal reflex	0	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0031826	HP:0031826	Abnormal reflex	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0031826	HP:0031826	Abnormal reflex	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0031826	HP:0031826	Abnormal reflex	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0031826	HP:0031826	Abnormal reflex	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0031826	HP:0031826	Abnormal reflex	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71			1
HP:0031826	HP:0031826	Abnormal reflex	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0031826	HP:0031826	Abnormal reflex	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0031826	HP:0031826	Abnormal reflex	0	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant			52
HP:0031826	HP:0031826	Abnormal reflex	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0031826	HP:0031826	Abnormal reflex	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0031826	HP:0031826	Abnormal reflex	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0031826	HP:0031826	Abnormal reflex	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0031826	HP:0033329	Abnormal postural reflex	1	CL E G H
HP:0031826	HP:0001347	Hyperreflexia	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0031826	HP:0001347	Hyperreflexia	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		57
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0031826	HP:0002476	Primitive reflex	1	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0031826	HP:0001347	Hyperreflexia	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0031826	HP:0001347	Hyperreflexia	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0031826	HP:0001347	Hyperreflexia	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.		120
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0031826	HP:0001347	Hyperreflexia	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		826
HP:0031826	HP:0001347	Hyperreflexia	1	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.		35
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia			35
HP:0031826	HP:0001347	Hyperreflexia	1	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040282 - Frequent		35
HP:0031826	HP:0001347	Hyperreflexia	1	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.		245
HP:0031826	HP:0001347	Hyperreflexia	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0031826	HP:0001347	Hyperreflexia	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent		135
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0031826	HP:0001347	Hyperreflexia	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0031826	HP:0001347	Hyperreflexia	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.		50
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract			50
HP:0031826	HP:0001347	Hyperreflexia	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		197
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0031826	HP:0001347	Hyperreflexia	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent		120
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0031826	HP:0001347	Hyperreflexia	1	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63			19
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0031826	HP:0001347	Hyperreflexia	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	HP:0040283 - Occasional		96
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0031826	HP:0001347	Hyperreflexia	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0031826	HP:0001347	Hyperreflexia	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	HP:0040283 - Occasional		25
HP:0031826	HP:0001347	Hyperreflexia	1	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040283 - Occasional		25
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ADCY6 CL E G H	112	237	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent		2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8			2
HP:0031826	HP:0001347	Hyperreflexia	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		88
HP:0031826	HP:0001347	Hyperreflexia	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0031826	HP:0001347	Hyperreflexia	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency			118
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0031826	HP:0001347	Hyperreflexia	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28			86
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28			86
HP:0031826	HP:0001347	Hyperreflexia	1	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28			86
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28			86
HP:0031826	HP:0001347	Hyperreflexia	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0031826	HP:0001347	Hyperreflexia	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0031826	HP:0001347	Hyperreflexia	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		175
HP:0031826	HP:0001347	Hyperreflexia	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5			60
HP:0031826	HP:0001347	Hyperreflexia	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent		60
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4			60
HP:0031826	HP:0001347	Hyperreflexia	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		1
HP:0031826	HP:0001347	Hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0031826	HP:0001347	Hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0031826	HP:0001347	Hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0031826	HP:0001347	Hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0031826	HP:0002476	Primitive reflex	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0031826	HP:0001347	Hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0031826	HP:0001347	Hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.		89
HP:0031826	HP:0001347	Hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.		89
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0031826	HP:0001347	Hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0031826	HP:0001347	Hyperreflexia	1	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040282 - Frequent		41
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			12
HP:0031826	HP:0001347	Hyperreflexia	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.		46
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			46
HP:0031826	HP:0001347	Hyperreflexia	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic			66
HP:0031826	HP:0001347	Hyperreflexia	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0031826	HP:0001347	Hyperreflexia	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0031826	HP:0001347	Hyperreflexia	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.		114
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0031826	HP:0001347	Hyperreflexia	1	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent		114
HP:0031826	HP:0001347	Hyperreflexia	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0031826	HP:0001347	Hyperreflexia	1	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent		114
HP:0031826	HP:0001347	Hyperreflexia	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.		114
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile			114
HP:0031826	HP:0001347	Hyperreflexia	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending			114
HP:0031826	HP:0001347	Hyperreflexia	1	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency			44
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD			62
HP:0031826	HP:0001347	Hyperreflexia	1	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63	HP:0040282 - Frequent		21
HP:0031826	HP:0001347	Hyperreflexia	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.		21
HP:0031826	HP:0001347	Hyperreflexia	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	.		21
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy			56
HP:0031826	HP:0001347	Hyperreflexia	1	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0031826	HP:0001347	Hyperreflexia	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		3
HP:0031826	HP:0001347	Hyperreflexia	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		64
HP:0031826	HP:0001347	Hyperreflexia	1	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.		64
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031826	HP:0001347	Hyperreflexia	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.		13
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0031826	HP:0001347	Hyperreflexia	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		49
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0031826	HP:0001347	Hyperreflexia	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive			49
HP:0031826	HP:0001347	Hyperreflexia	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		48
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0031826	HP:0001347	Hyperreflexia	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive			48
HP:0031826	HP:0001347	Hyperreflexia	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		41
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0031826	HP:0001347	Hyperreflexia	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.		41
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive			41
HP:0031826	HP:0001347	Hyperreflexia	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		18
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0031826	HP:0001347	Hyperreflexia	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.		18
HP:0031826	HP:0031828	Abnormal superficial reflex	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive			18
HP:0031826	HP:0001347	Hyperreflexia	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent		165
HP:0031826	HP:0001315	Reduced tendon reflexes	1	APOB CL E G H	338	603	OMIM:615558	Hypobetalipoproteinemia, familial, 1	.		356
HP:0031826	HP:0001347	Hyperreflexia	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3			39
HP:0031826	HP:0031828	Abnormal superficial reflex	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3			39
HP:0031826	HP:0001315	Reduced tendon reflexes	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia			61
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AR CL E G H	367	644	ORPHA:481	Kennedy disease			125
HP:0031826	HP:0001315	Reduced tendon reflexes	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1			125
HP:0031826	HP:0001347	Hyperreflexia	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0031826	HP:0001347	Hyperreflexia	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		3
HP:0031826	HP:0001347	Hyperreflexia	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		1
HP:0031826	HP:0001347	Hyperreflexia	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		29
HP:0031826	HP:0001347	Hyperreflexia	1	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive			1
HP:0031826	HP:0001347	Hyperreflexia	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0031826	HP:0001347	Hyperreflexia	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0031826	HP:0001347	Hyperreflexia	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1	.		166
HP:0031826	HP:0001347	Hyperreflexia	1	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.		166
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0031826	HP:0001347	Hyperreflexia	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0031826	HP:0001347	Hyperreflexia	1	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040283 - Occasional		48
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease			48
HP:0031826	HP:0001347	Hyperreflexia	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent		48
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0031826	HP:0001347	Hyperreflexia	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		512
HP:0031826	HP:0001347	Hyperreflexia	1	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent
HP:0031826	HP:0001347	Hyperreflexia	1	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0031826	HP:0001347	Hyperreflexia	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0031826	HP:0001347	Hyperreflexia	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0031826	HP:0001347	Hyperreflexia	1	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID	HP:0040283 - Occasional		71
HP:0031826	HP:0001347	Hyperreflexia	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.		71
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF			5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy			16
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis			100
HP:0031826	HP:0001347	Hyperreflexia	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent		100
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78			100
HP:0031826	HP:0001347	Hyperreflexia	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.		100
HP:0031826	HP:0001347	Hyperreflexia	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0031826	HP:0002476	Primitive reflex	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0031826	HP:0001347	Hyperreflexia	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0031826	HP:0001347	Hyperreflexia	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0031826	HP:0001347	Hyperreflexia	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome			150
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0031826	HP:0001347	Hyperreflexia	1	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0031826	HP:0001347	Hyperreflexia	1	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0031826	HP:0001347	Hyperreflexia	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040282 - Frequent
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0031826	HP:0001347	Hyperreflexia	1	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	HP:0040283 - Occasional		36
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked			36
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0031826	HP:0001347	Hyperreflexia	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome			36
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome			36
HP:0031826	HP:0001347	Hyperreflexia	1	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.		3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3			192
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0031826	HP:0001347	Hyperreflexia	1	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		24
HP:0031826	HP:0001347	Hyperreflexia	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.		169
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.		9
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional		9
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2			11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent		14
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent		14
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040280 - Obligate		8
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent		1
HP:0031826	HP:0001347	Hyperreflexia	1	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent		1
HP:0031826	HP:0001347	Hyperreflexia	1	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.		49
HP:0031826	HP:0001347	Hyperreflexia	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0031826	HP:0001315	Reduced tendon reflexes	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0031826	HP:0001315	Reduced tendon reflexes	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26			25
HP:0031826	HP:0001347	Hyperreflexia	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040282 - Frequent		25
HP:0031826	HP:0031828	Abnormal superficial reflex	1	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26			25
HP:0031826	HP:0001315	Reduced tendon reflexes	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0031826	HP:0001347	Hyperreflexia	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.		25
HP:0031826	HP:0031828	Abnormal superficial reflex	1	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive			25
HP:0031826	HP:0001315	Reduced tendon reflexes	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0031826	HP:0001315	Reduced tendon reflexes	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0031826	HP:0001347	Hyperreflexia	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001347	Hyperreflexia	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		114
HP:0031826	HP:0001347	Hyperreflexia	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		97
HP:0031826	HP:0001347	Hyperreflexia	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0031826	HP:0001347	Hyperreflexia	1	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0031826	HP:0001347	Hyperreflexia	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001347	Hyperreflexia	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0031826	HP:0001315	Reduced tendon reflexes	1	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31			1
HP:0031826	HP:0001347	Hyperreflexia	1	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040283 - Occasional		1
HP:0031826	HP:0001347	Hyperreflexia	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		182
HP:0031826	HP:0001315	Reduced tendon reflexes	1	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0031826	HP:0001347	Hyperreflexia	1	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040283 - Occasional		46
HP:0031826	HP:0001315	Reduced tendon reflexes	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0031826	HP:0001347	Hyperreflexia	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional		46
HP:0031826	HP:0031828	Abnormal superficial reflex	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0031826	HP:0001315	Reduced tendon reflexes	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0031826	HP:0001315	Reduced tendon reflexes	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0031826	HP:0001315	Reduced tendon reflexes	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0031826	HP:0001347	Hyperreflexia	1	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.		20
HP:0031826	HP:0001347	Hyperreflexia	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.		20
HP:0031826	HP:0031828	Abnormal superficial reflex	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0031826	HP:0001347	Hyperreflexia	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0031826	HP:0001347	Hyperreflexia	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0031826	HP:0001347	Hyperreflexia	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0031826	HP:0001347	Hyperreflexia	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040282 - Frequent		105
HP:0031826	HP:0031828	Abnormal superficial reflex	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0031826	HP:0001347	Hyperreflexia	1	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional		105
HP:0031826	HP:0001347	Hyperreflexia	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.		105
HP:0031826	HP:0031828	Abnormal superficial reflex	1	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C			105
HP:0031826	HP:0001347	Hyperreflexia	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent		105
HP:0031826	HP:0001347	Hyperreflexia	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.		105
HP:0031826	HP:0031828	Abnormal superficial reflex	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17			105
HP:0031826	HP:0001315	Reduced tendon reflexes	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0031826	HP:0001347	Hyperreflexia	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001315	Reduced tendon reflexes	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0031826	HP:0001347	Hyperreflexia	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0031826	HP:0031828	Abnormal superficial reflex	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0031826	HP:0001347	Hyperreflexia	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0031826	HP:0031828	Abnormal superficial reflex	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration			114
HP:0031826	HP:0001315	Reduced tendon reflexes	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0031826	HP:0001347	Hyperreflexia	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0031826	HP:0031828	Abnormal superficial reflex	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0031826	HP:0001315	Reduced tendon reflexes	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0031826	HP:0001347	Hyperreflexia	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.		114
HP:0031826	HP:0031828	Abnormal superficial reflex	1	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive			114
HP:0031826	HP:0001347	Hyperreflexia	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0031826	HP:0001347	Hyperreflexia	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		56
HP:0031826	HP:0001315	Reduced tendon reflexes	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0031826	HP:0031828	Abnormal superficial reflex	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0031826	HP:0001347	Hyperreflexia	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		23
HP:0031826	HP:0001347	Hyperreflexia	1	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0031826	HP:0001347	Hyperreflexia	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0031826	HP:0001347	Hyperreflexia	1	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.		449
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0031826	HP:0001347	Hyperreflexia	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent		449
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0031826	HP:0001347	Hyperreflexia	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.		11
HP:0031826	HP:0001347	Hyperreflexia	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42	HP:0040283 - Occasional		32
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0031826	HP:0001347	Hyperreflexia	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.		32
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0031826	HP:0001347	Hyperreflexia	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0031826	HP:0001347	Hyperreflexia	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability			34
HP:0031826	HP:0001347	Hyperreflexia	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76			4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76			4
HP:0031826	HP:0001347	Hyperreflexia	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0031826	HP:0001347	Hyperreflexia	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0031826	HP:0001347	Hyperreflexia	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0031826	HP:0001347	Hyperreflexia	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.		118
HP:0031826	HP:0001347	Hyperreflexia	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0031826	HP:0001347	Hyperreflexia	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		247
HP:0031826	HP:0001347	Hyperreflexia	1	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0031826	HP:0001347	Hyperreflexia	1	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.		54
HP:0031826	HP:0001347	Hyperreflexia	1	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent		54
HP:0031826	HP:0001347	Hyperreflexia	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040281 - Very frequent		56
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia			56
HP:0031826	HP:0001347	Hyperreflexia	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.		56
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive			56
HP:0031826	HP:0001347	Hyperreflexia	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy			3
HP:0031826	HP:0001347	Hyperreflexia	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0031826	HP:0001347	Hyperreflexia	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		147
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia			3
HP:0031826	HP:0001347	Hyperreflexia	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		181
HP:0031826	HP:0001347	Hyperreflexia	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		161
HP:0031826	HP:0001347	Hyperreflexia	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		38
HP:0031826	HP:0001347	Hyperreflexia	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		146
HP:0031826	HP:0001347	Hyperreflexia	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		31
HP:0031826	HP:0001347	Hyperreflexia	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		71
HP:0031826	HP:0001347	Hyperreflexia	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type			11
HP:0031826	HP:0001347	Hyperreflexia	1	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant	.		3
HP:0031826	HP:0001347	Hyperreflexia	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0031826	HP:0001347	Hyperreflexia	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.		19
HP:0031826	HP:0001347	Hyperreflexia	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		42
HP:0031826	HP:0001347	Hyperreflexia	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7			42
HP:0031826	HP:0001347	Hyperreflexia	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		74
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		53
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		88
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		139
HP:0031826	HP:0001347	Hyperreflexia	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		15
HP:0031826	HP:0001347	Hyperreflexia	1	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.		15
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0031826	HP:0001347	Hyperreflexia	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0031826	HP:0001347	Hyperreflexia	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001347	Hyperreflexia	1	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent		141
HP:0031826	HP:0001347	Hyperreflexia	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040281 - Very frequent		7
HP:0031826	HP:0001347	Hyperreflexia	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.		7
HP:0031826	HP:0001347	Hyperreflexia	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent		38
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0031826	HP:0001347	Hyperreflexia	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0031826	HP:0001347	Hyperreflexia	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0031826	HP:0001347	Hyperreflexia	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0031826	HP:0001347	Hyperreflexia	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		44
HP:0031826	HP:0001347	Hyperreflexia	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		164
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0031826	HP:0001347	Hyperreflexia	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CNTNAP1 CL E G H	8506	8011	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent		9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0031826	HP:0001347	Hyperreflexia	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6			16
HP:0031826	HP:0001347	Hyperreflexia	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0031826	HP:0001347	Hyperreflexia	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0031826	HP:0031828	Abnormal superficial reflex	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0031826	HP:0001347	Hyperreflexia	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0031826	HP:0001347	Hyperreflexia	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.		54
HP:0031826	HP:0031828	Abnormal superficial reflex	1	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to			54
HP:0031826	HP:0001347	Hyperreflexia	1	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0031826	HP:0001347	Hyperreflexia	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040283 - Occasional		136
HP:0031826	HP:0001347	Hyperreflexia	1	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	.		136
HP:0031826	HP:0001347	Hyperreflexia	1	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0031826	HP:0001347	Hyperreflexia	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0031826	HP:0001347	Hyperreflexia	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0031826	HP:0031828	Abnormal superficial reflex	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0031826	HP:0001347	Hyperreflexia	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0031826	HP:0001347	Hyperreflexia	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040281 - Very frequent		99
HP:0031826	HP:0001347	Hyperreflexia	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent		1
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0031826	HP:0001347	Hyperreflexia	1	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.		1
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant			1
HP:0031826	HP:0001347	Hyperreflexia	1	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0031826	HP:0001347	Hyperreflexia	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		156
HP:0031826	HP:0001347	Hyperreflexia	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		158
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0031826	HP:0001347	Hyperreflexia	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.		149
HP:0031826	HP:0001347	Hyperreflexia	1	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.		149
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy			17
HP:0031826	HP:0001347	Hyperreflexia	1	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.		2
HP:0031826	HP:0001347	Hyperreflexia	1	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.		20
HP:0031826	HP:0002476	Primitive reflex	1	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.		20
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13			20
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency			9
HP:0031826	HP:0001347	Hyperreflexia	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.		9
HP:0031826	HP:0001347	Hyperreflexia	1	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0031826	HP:0001347	Hyperreflexia	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0031826	HP:0001347	Hyperreflexia	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0031826	HP:0001347	Hyperreflexia	1	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56			18
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56			18
HP:0031826	HP:0001347	Hyperreflexia	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0031826	HP:0001347	Hyperreflexia	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0031826	HP:0001347	Hyperreflexia	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.		57
HP:0031826	HP:0031828	Abnormal superficial reflex	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0031826	HP:0001315	Reduced tendon reflexes	1	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:0031826	HP:0031828	Abnormal superficial reflex	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0031826	HP:0001347	Hyperreflexia	1	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.		60
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040282 - Frequent		80
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital			80
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant			2
HP:0031826	HP:0001347	Hyperreflexia	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0031826	HP:0001347	Hyperreflexia	1	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.		86
HP:0031826	HP:0002476	Primitive reflex	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome			86
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		30
HP:0031826	HP:0001347	Hyperreflexia	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0031826	HP:0001347	Hyperreflexia	1	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040281 - Very frequent		35
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28			35
HP:0031826	HP:0001347	Hyperreflexia	1	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.		35
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive			35
HP:0031826	HP:0001347	Hyperreflexia	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.		29
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0031826	HP:0001347	Hyperreflexia	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.		6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0031826	HP:0001347	Hyperreflexia	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0031826	HP:0001347	Hyperreflexia	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		47
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY			21
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent		21
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q			12
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0031826	HP:0001347	Hyperreflexia	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0031826	HP:0001347	Hyperreflexia	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0031826	HP:0001347	Hyperreflexia	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0031826	HP:0001347	Hyperreflexia	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.		82
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type			1496
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5			30
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0031826	HP:0001347	Hyperreflexia	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0031826	HP:0002476	Primitive reflex	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset			6
HP:0031826	HP:0001347	Hyperreflexia	1	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0031826	HP:0001347	Hyperreflexia	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect			94
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B			167
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0031826	HP:0001347	Hyperreflexia	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional		145
HP:0031826	HP:0002476	Primitive reflex	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional		145
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome			145
HP:0031826	HP:0001347	Hyperreflexia	1	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.		145
HP:0031826	HP:0002476	Primitive reflex	1	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.		145
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE			145
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia			3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		91
HP:0031826	HP:0001347	Hyperreflexia	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.		38
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			38
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0031826	HP:0001347	Hyperreflexia	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0031826	HP:0002476	Primitive reflex	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.		26
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent		9
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency			144
HP:0031826	HP:0001347	Hyperreflexia	1	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0031826	HP:0001347	Hyperreflexia	1	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent		13
HP:0031826	HP:0001347	Hyperreflexia	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.		13
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0031826	HP:0001347	Hyperreflexia	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0031826	HP:0031828	Abnormal superficial reflex	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0031826	HP:0001347	Hyperreflexia	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13			427
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0031826	HP:0001347	Hyperreflexia	1	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.		1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional		600
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1			600
HP:0031826	HP:0001315	Reduced tendon reflexes	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0031826	HP:0001347	Hyperreflexia	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0031826	HP:0001347	Hyperreflexia	1	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26			4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive			58
HP:0031826	HP:0031828	Abnormal superficial reflex	1	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0031826	HP:0001347	Hyperreflexia	1	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040282 - Frequent		8
HP:0031826	HP:0001347	Hyperreflexia	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0031826	HP:0031828	Abnormal superficial reflex	1	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome			8
HP:0031826	HP:0001347	Hyperreflexia	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001347	Hyperreflexia	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0031826	HP:0001347	Hyperreflexia	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		172
HP:0031826	HP:0001347	Hyperreflexia	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0031826	HP:0001347	Hyperreflexia	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34			62
HP:0031826	HP:0001347	Hyperreflexia	1	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.		62
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34			62
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III			133
HP:0031826	HP:0001347	Hyperreflexia	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent		107
HP:0031826	HP:0001347	Hyperreflexia	1	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64			3
HP:0031826	HP:0001347	Hyperreflexia	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0031826	HP:0001347	Hyperreflexia	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive			12
HP:0031826	HP:0001347	Hyperreflexia	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.		20
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		20
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		106
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0031826	HP:0001347	Hyperreflexia	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		106
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0031826	HP:0001347	Hyperreflexia	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		54
HP:0031826	HP:0001347	Hyperreflexia	1	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.		54
HP:0031826	HP:0001347	Hyperreflexia	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		158
HP:0031826	HP:0001347	Hyperreflexia	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		158
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		83
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		83
HP:0031826	HP:0001347	Hyperreflexia	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0031826	HP:0001347	Hyperreflexia	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		199
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0031826	HP:0001347	Hyperreflexia	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		199
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		199
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0031826	HP:0001347	Hyperreflexia	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		55
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0031826	HP:0001347	Hyperreflexia	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		55
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62			2
HP:0031826	HP:0001347	Hyperreflexia	1	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040282 - Frequent		2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0031826	HP:0001347	Hyperreflexia	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0031826	HP:0001347	Hyperreflexia	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0031826	HP:0001347	Hyperreflexia	1	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent		18
HP:0031826	HP:0001347	Hyperreflexia	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0031826	HP:0001347	Hyperreflexia	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.		18
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0031826	HP:0001347	Hyperreflexia	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0031826	HP:0001347	Hyperreflexia	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0031826	HP:0001347	Hyperreflexia	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0031826	HP:0001347	Hyperreflexia	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0031826	HP:0001347	Hyperreflexia	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0031826	HP:0001347	Hyperreflexia	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0031826	HP:0001347	Hyperreflexia	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0031826	HP:0001347	Hyperreflexia	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0031826	HP:0001315	Reduced tendon reflexes	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0031826	HP:0001347	Hyperreflexia	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0031826	HP:0001347	Hyperreflexia	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		135
HP:0031826	HP:0001347	Hyperreflexia	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		209
HP:0031826	HP:0001347	Hyperreflexia	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040281 - Very frequent		76
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0031826	HP:0001347	Hyperreflexia	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.		76
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0031826	HP:0001347	Hyperreflexia	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		56
HP:0031826	HP:0001347	Hyperreflexia	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0031826	HP:0001347	Hyperreflexia	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0031826	HP:0001347	Hyperreflexia	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0031826	HP:0001347	Hyperreflexia	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0031826	HP:0001347	Hyperreflexia	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0031826	HP:0001347	Hyperreflexia	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0031826	HP:0001347	Hyperreflexia	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0031826	HP:0001347	Hyperreflexia	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0031826	HP:0001347	Hyperreflexia	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0031826	HP:0001347	Hyperreflexia	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0031826	HP:0001347	Hyperreflexia	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0031826	HP:0001347	Hyperreflexia	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0031826	HP:0001347	Hyperreflexia	1	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive	.		36
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive			36
HP:0031826	HP:0001347	Hyperreflexia	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0031826	HP:0001347	Hyperreflexia	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0031826	HP:0001347	Hyperreflexia	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.		36
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset			36
HP:0031826	HP:0001347	Hyperreflexia	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		36
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome			36
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0031826	HP:0001347	Hyperreflexia	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0031826	HP:0001347	Hyperreflexia	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe			68
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant			68
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent		68
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FKBP10 CL E G H	60681	18169	ORPHA:1149	Kuskokwim syndrome	HP:0040283 - Occasional		61
HP:0031826	HP:0001347	Hyperreflexia	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001347	Hyperreflexia	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		157
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4			184
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4			197
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome			30
HP:0031826	HP:0001347	Hyperreflexia	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0031826	HP:0001347	Hyperreflexia	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104			32
HP:0031826	HP:0001347	Hyperreflexia	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		26
HP:0031826	HP:0001347	Hyperreflexia	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3			33
HP:0031826	HP:0001347	Hyperreflexia	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0031826	HP:0001347	Hyperreflexia	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia			105
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0031826	HP:0001347	Hyperreflexia	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent		3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0031826	HP:0031828	Abnormal superficial reflex	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0031826	HP:0001315	Reduced tendon reflexes	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0031826	HP:0001347	Hyperreflexia	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0031826	HP:0001347	Hyperreflexia	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0031826	HP:0001347	Hyperreflexia	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0031826	HP:0001347	Hyperreflexia	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0031826	HP:0001347	Hyperreflexia	1	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.		91
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0031826	HP:0001347	Hyperreflexia	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0031826	HP:0001347	Hyperreflexia	1	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0031826	HP:0001347	Hyperreflexia	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity			30
HP:0031826	HP:0001347	Hyperreflexia	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional		30
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46			30
HP:0031826	HP:0001347	Hyperreflexia	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0031826	HP:0001347	Hyperreflexia	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0031826	HP:0001347	Hyperreflexia	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0031826	HP:0001347	Hyperreflexia	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional		2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy			5
HP:0031826	HP:0001347	Hyperreflexia	1	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A			108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0031826	HP:0001347	Hyperreflexia	1	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0031826	HP:0001347	Hyperreflexia	1	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0031826	HP:0001347	Hyperreflexia	1	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0031826	HP:0001347	Hyperreflexia	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GFER CL E G H	2671	4236	ORPHA:330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	HP:0040282 - Frequent		14
HP:0031826	HP:0001347	Hyperreflexia	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.		85
HP:0031826	HP:0001347	Hyperreflexia	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			128
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0031826	HP:0001347	Hyperreflexia	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0031826	HP:0001347	Hyperreflexia	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0031826	HP:0001347	Hyperreflexia	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1			107
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0031826	HP:0001347	Hyperreflexia	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent		107
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0031826	HP:0001347	Hyperreflexia	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.		37
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive			37
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy			166
HP:0031826	HP:0001347	Hyperreflexia	1	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0031826	HP:0001347	Hyperreflexia	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0031826	HP:0001347	Hyperreflexia	1	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		63
HP:0031826	HP:0001347	Hyperreflexia	1	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		46
HP:0031826	HP:0001347	Hyperreflexia	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2	.		46
HP:0031826	HP:0002476	Primitive reflex	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0031826	HP:0001347	Hyperreflexia	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent		17
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0031826	HP:0001347	Hyperreflexia	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0031826	HP:0001347	Hyperreflexia	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0031826	HP:0001347	Hyperreflexia	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.		6
HP:0031826	HP:0001347	Hyperreflexia	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040281 - Very frequent		69
HP:0031826	HP:0002476	Primitive reflex	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040282 - Frequent		69
HP:0031826	HP:0001347	Hyperreflexia	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0031826	HP:0002476	Primitive reflex	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0031826	HP:0001347	Hyperreflexia	1	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome			24
HP:0031826	HP:0001347	Hyperreflexia	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		24
HP:0031826	HP:0001347	Hyperreflexia	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		34
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			34
HP:0031826	HP:0001347	Hyperreflexia	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040282 - Frequent		7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0031826	HP:0001347	Hyperreflexia	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0031826	HP:0001347	Hyperreflexia	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F			12
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0031826	HP:0001347	Hyperreflexia	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6			88
HP:0031826	HP:0001347	Hyperreflexia	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0031826	HP:0001347	Hyperreflexia	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0031826	HP:0001347	Hyperreflexia	1	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		18
HP:0031826	HP:0001347	Hyperreflexia	1	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.		18
HP:0031826	HP:0001347	Hyperreflexia	1	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0031826	HP:0001347	Hyperreflexia	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent		4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0031826	HP:0001347	Hyperreflexia	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0031826	HP:0001347	Hyperreflexia	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0031826	HP:0031828	Abnormal superficial reflex	1	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0031826	HP:0001347	Hyperreflexia	1	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.		108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0031826	HP:0001347	Hyperreflexia	1	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040281 - Very frequent		8
HP:0031826	HP:0001347	Hyperreflexia	1	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0031826	HP:0001347	Hyperreflexia	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13			8
HP:0031826	HP:0001347	Hyperreflexia	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0031826	HP:0001347	Hyperreflexia	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		126
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0031826	HP:0001347	Hyperreflexia	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0031826	HP:0001347	Hyperreflexia	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0031826	HP:0001347	Hyperreflexia	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0031826	HP:0001347	Hyperreflexia	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0031826	HP:0001347	Hyperreflexia	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0031826	HP:0001347	Hyperreflexia	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0031826	HP:0001347	Hyperreflexia	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		36
HP:0031826	HP:0001347	Hyperreflexia	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0031826	HP:0002476	Primitive reflex	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040284 - Very rare		99
HP:0031826	HP:0031828	Abnormal superficial reflex	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0031826	HP:0002476	Primitive reflex	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040284 - Very rare		60
HP:0031826	HP:0031828	Abnormal superficial reflex	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0031826	HP:0001347	Hyperreflexia	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0031826	HP:0001347	Hyperreflexia	1	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0031826	HP:0001347	Hyperreflexia	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0031826	HP:0001347	Hyperreflexia	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0031826	HP:0001347	Hyperreflexia	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		86
HP:0031826	HP:0001347	Hyperreflexia	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent		32
HP:0031826	HP:0001347	Hyperreflexia	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent		12
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G			11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type			11
HP:0031826	HP:0001347	Hyperreflexia	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G			5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	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:0031826	HP:0001315	Reduced tendon reflexes	1	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:0031826	HP:0001347	Hyperreflexia	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0031826	HP:0031828	Abnormal superficial reflex	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0031826	HP:0001347	Hyperreflexia	1	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional		76
HP:0031826	HP:0001347	Hyperreflexia	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.		76
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		113
HP:0031826	HP:0001347	Hyperreflexia	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		113
HP:0031826	HP:0001347	Hyperreflexia	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	HP:0040281 - Very frequent		47
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F			47
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB			47
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC			13
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L			38
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA			38
HP:0031826	HP:0001347	Hyperreflexia	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent		46
HP:0031826	HP:0031828	Abnormal superficial reflex	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0031826	HP:0001347	Hyperreflexia	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0031826	HP:0031828	Abnormal superficial reflex	1	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4			46
HP:0031826	HP:0001347	Hyperreflexia	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.		46
HP:0031826	HP:0031828	Abnormal superficial reflex	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant			46
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0031826	HP:0001315	Reduced tendon reflexes	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0031826	HP:0001347	Hyperreflexia	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.		34
HP:0031826	HP:0031828	Abnormal superficial reflex	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)			34
HP:0031826	HP:0001347	Hyperreflexia	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0031826	HP:0001347	Hyperreflexia	1	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		39
HP:0031826	HP:0001347	Hyperreflexia	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040281 - Very frequent		12
HP:0031826	HP:0001347	Hyperreflexia	1	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.		12
HP:0031826	HP:0031828	Abnormal superficial reflex	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0031826	HP:0001347	Hyperreflexia	1	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent		12
HP:0031826	HP:0001347	Hyperreflexia	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0031826	HP:0001347	Hyperreflexia	1	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.		98
HP:0031826	HP:0001347	Hyperreflexia	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0031826	HP:0031828	Abnormal superficial reflex	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0031826	HP:0001315	Reduced tendon reflexes	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0031826	HP:0001347	Hyperreflexia	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0031826	HP:0031828	Abnormal superficial reflex	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0031826	HP:0001315	Reduced tendon reflexes	1	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive			16
HP:0031826	HP:0001347	Hyperreflexia	1	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.		16
HP:0031826	HP:0031828	Abnormal superficial reflex	1	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive			16
HP:0031826	HP:0001347	Hyperreflexia	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		30
HP:0031826	HP:0001347	Hyperreflexia	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0031826	HP:0001347	Hyperreflexia	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0031826	HP:0001347	Hyperreflexia	1	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0031826	HP:0001347	Hyperreflexia	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		148
HP:0031826	HP:0001347	Hyperreflexia	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		48
HP:0031826	HP:0001347	Hyperreflexia	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S			209
HP:0031826	HP:0001315	Reduced tendon reflexes	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0031826	HP:0001347	Hyperreflexia	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0031826	HP:0001347	Hyperreflexia	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0031826	HP:0001347	Hyperreflexia	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		52
HP:0031826	HP:0001347	Hyperreflexia	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0031826	HP:0031828	Abnormal superficial reflex	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0031826	HP:0001347	Hyperreflexia	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		4
HP:0031826	HP:0001347	Hyperreflexia	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		120
HP:0031826	HP:0001315	Reduced tendon reflexes	1	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E			135
HP:0031826	HP:0001347	Hyperreflexia	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		111
HP:0031826	HP:0001315	Reduced tendon reflexes	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0031826	HP:0001347	Hyperreflexia	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0031826	HP:0031828	Abnormal superficial reflex	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0031826	HP:0001347	Hyperreflexia	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0031826	HP:0031828	Abnormal superficial reflex	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0031826	HP:0001347	Hyperreflexia	1	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.		1
HP:0031826	HP:0001347	Hyperreflexia	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.		7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0031826	HP:0001347	Hyperreflexia	1	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.		177
HP:0031826	HP:0001347	Hyperreflexia	1	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16	HP:0040282 - Frequent		177
HP:0031826	HP:0001315	Reduced tendon reflexes	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0031826	HP:0001315	Reduced tendon reflexes	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0031826	HP:0001315	Reduced tendon reflexes	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0031826	HP:0001347	Hyperreflexia	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0031826	HP:0031828	Abnormal superficial reflex	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0031826	HP:0001347	Hyperreflexia	1	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	.		4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			1
HP:0031826	HP:0001347	Hyperreflexia	1	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional		2
HP:0031826	HP:0001347	Hyperreflexia	1	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.		2
HP:0031826	HP:0002476	Primitive reflex	1	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional		2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0031826	HP:0001347	Hyperreflexia	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly			10
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0031826	HP:0001347	Hyperreflexia	1	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.		145
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1			145
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0031826	HP:0001347	Hyperreflexia	1	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.		17
HP:0031826	HP:0001347	Hyperreflexia	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent		17
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19			35
HP:0031826	HP:0001347	Hyperreflexia	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	HP:0040283 - Occasional		35
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0031826	HP:0001347	Hyperreflexia	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040282 - Frequent		35
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2			10
HP:0031826	HP:0001347	Hyperreflexia	1	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2			10
HP:0031826	HP:0001347	Hyperreflexia	1	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.		3
HP:0031826	HP:0001347	Hyperreflexia	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040281 - Very frequent		3
HP:0031826	HP:0001347	Hyperreflexia	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0031826	HP:0001347	Hyperreflexia	1	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy			528
HP:0031826	HP:0001347	Hyperreflexia	1	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy			302
HP:0031826	HP:0001347	Hyperreflexia	1	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.		321
HP:0031826	HP:0001347	Hyperreflexia	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0031826	HP:0001347	Hyperreflexia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0031826	HP:0001347	Hyperreflexia	1	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040282 - Frequent		81
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0031826	HP:0001347	Hyperreflexia	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0031826	HP:0001347	Hyperreflexia	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		9
HP:0031826	HP:0001347	Hyperreflexia	1	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30			276
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30			276
HP:0031826	HP:0001347	Hyperreflexia	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.		276
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0031826	HP:0001347	Hyperreflexia	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0031826	HP:0001347	Hyperreflexia	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.		276
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive			276
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1			202
HP:0031826	HP:0001347	Hyperreflexia	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040283 - Occasional		38
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0031826	HP:0001347	Hyperreflexia	1	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.		38
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive			38
HP:0031826	HP:0001347	Hyperreflexia	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0031826	HP:0001347	Hyperreflexia	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.		93
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant			93
HP:0031826	HP:0001347	Hyperreflexia	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0031826	HP:0001347	Hyperreflexia	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0031826	HP:0001347	Hyperreflexia	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0031826	HP:0001347	Hyperreflexia	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		42
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0031826	HP:0001347	Hyperreflexia	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		112
HP:0031826	HP:0001347	Hyperreflexia	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040282 - Frequent
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		196
HP:0031826	HP:0001347	Hyperreflexia	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		196
HP:0031826	HP:0001347	Hyperreflexia	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0031826	HP:0031828	Abnormal superficial reflex	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0031826	HP:0001347	Hyperreflexia	1	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent		134
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional		411
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6			136
HP:0031826	HP:0001347	Hyperreflexia	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0031826	HP:0031828	Abnormal superficial reflex	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0031826	HP:0001347	Hyperreflexia	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4			286
HP:0031826	HP:0001347	Hyperreflexia	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0031826	HP:0031828	Abnormal superficial reflex	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LGI4 CL E G H	163175	18712	ORPHA:2680	Hypomyelination neuropathy-arthrogryposis syndrome	HP:0040281 - Very frequent		6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0031826	HP:0001347	Hyperreflexia	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001347	Hyperreflexia	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C			74
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent		645
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1			645
HP:0031826	HP:0001347	Hyperreflexia	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent		44
HP:0031826	HP:0031828	Abnormal superficial reflex	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0031826	HP:0001347	Hyperreflexia	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.		44
HP:0031826	HP:0031828	Abnormal superficial reflex	1	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant			44
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent			95
HP:0031826	HP:0001347	Hyperreflexia	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		62
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LRP4 CL E G H	4038	6696	OMIM:616304	Myasthenic syndrome, congenital, 17			124
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		124
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0031826	HP:0001347	Hyperreflexia	1	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P			102
HP:0031826	HP:0001347	Hyperreflexia	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0031826	HP:0001347	Hyperreflexia	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0031826	HP:0031828	Abnormal superficial reflex	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0031826	HP:0001315	Reduced tendon reflexes	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0031826	HP:0001347	Hyperreflexia	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75			4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0031826	HP:0001347	Hyperreflexia	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0031826	HP:0001347	Hyperreflexia	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		53
HP:0031826	HP:0001347	Hyperreflexia	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0031826	HP:0001347	Hyperreflexia	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		140
HP:0031826	HP:0002476	Primitive reflex	1	MAPT CL E G H	4137	6893	OMIM:600274	Frontotemporal dementia	.		140
HP:0031826	HP:0002476	Primitive reflex	1	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.		140
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0031826	HP:0001347	Hyperreflexia	1	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040281 - Very frequent		25
HP:0031826	HP:0001347	Hyperreflexia	1	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive	.		25
HP:0031826	HP:0001347	Hyperreflexia	1	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.		82
HP:0031826	HP:0001347	Hyperreflexia	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0031826	HP:0001347	Hyperreflexia	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0031826	HP:0001347	Hyperreflexia	1	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	HP:0040283 - Occasional		5
HP:0031826	HP:0001347	Hyperreflexia	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0031826	HP:0001347	Hyperreflexia	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.		77
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0031826	HP:0001347	Hyperreflexia	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0031826	HP:0001347	Hyperreflexia	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0031826	HP:0001347	Hyperreflexia	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent		78
HP:0031826	HP:0001347	Hyperreflexia	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		155
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0031826	HP:0001347	Hyperreflexia	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0031826	HP:0001347	Hyperreflexia	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.		950
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13			950
HP:0031826	HP:0001347	Hyperreflexia	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome			950
HP:0031826	HP:0001347	Hyperreflexia	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.		6
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0031826	HP:0001347	Hyperreflexia	1	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.		23
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2			43
HP:0031826	HP:0001347	Hyperreflexia	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0031826	HP:0001347	Hyperreflexia	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		75
HP:0031826	HP:0001347	Hyperreflexia	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0031826	HP:0001347	Hyperreflexia	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0031826	HP:0001347	Hyperreflexia	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.		17
HP:0031826	HP:0001347	Hyperreflexia	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0031826	HP:0001347	Hyperreflexia	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	HP:0040283 - Occasional		203
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040282 - Frequent		203
HP:0031826	HP:0001347	Hyperreflexia	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		5
HP:0031826	HP:0001347	Hyperreflexia	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.		5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0031826	HP:0001347	Hyperreflexia	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0031826	HP:0001347	Hyperreflexia	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0031826	HP:0001347	Hyperreflexia	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional		3
HP:0031826	HP:0001347	Hyperreflexia	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0031826	HP:0001347	Hyperreflexia	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		1
HP:0031826	HP:0001347	Hyperreflexia	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T			18
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0031826	HP:0002476	Primitive reflex	1	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent		8
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0031826	HP:0001347	Hyperreflexia	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0031826	HP:0001347	Hyperreflexia	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I			134
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B			134
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D			134
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			134
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent		532
HP:0031826	HP:0001347	Hyperreflexia	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1			532
HP:0031826	HP:0001347	Hyperreflexia	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0031826	HP:0001347	Hyperreflexia	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0031826	HP:0001347	Hyperreflexia	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0031826	HP:0001347	Hyperreflexia	1	MSTN CL E G H	2660	4223	OMIM:614160	MUSCLE HYPERTROPHY; MSLHP			34
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0031826	HP:0001347	Hyperreflexia	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome			19
HP:0031826	HP:0001347	Hyperreflexia	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040281 - Very frequent		19
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome			19
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0031826	HP:0001347	Hyperreflexia	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.		19
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive			19
HP:0031826	HP:0001347	Hyperreflexia	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0031826	HP:0001347	Hyperreflexia	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0031826	HP:0001347	Hyperreflexia	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0031826	HP:0031828	Abnormal superficial reflex	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		72
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent		1269
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0031826	HP:0001347	Hyperreflexia	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0031826	HP:0001347	Hyperreflexia	1	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body			75
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent		217
HP:0031826	HP:0001315	Reduced tendon reflexes	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0031826	HP:0001347	Hyperreflexia	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0031826	HP:0001347	Hyperreflexia	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0031826	HP:0001347	Hyperreflexia	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NAGLU CL E G H	4669	7632	OMIM:616491	Charcot-Marie-Tooth disease, axonal, type 2V			72
HP:0031826	HP:0001347	Hyperreflexia	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.		48
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0031826	HP:0001347	Hyperreflexia	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0031826	HP:0001347	Hyperreflexia	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0031826	HP:0001347	Hyperreflexia	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0031826	HP:0001347	Hyperreflexia	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		1
HP:0031826	HP:0001347	Hyperreflexia	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent		13
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0031826	HP:0001347	Hyperreflexia	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0031826	HP:0001347	Hyperreflexia	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D			82
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12			7
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26			27
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	.		31
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.		50
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5			81
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.		65
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.		38
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.		42
HP:0031826	HP:0002476	Primitive reflex	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0031826	HP:0001347	Hyperreflexia	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0031826	HP:0001347	Hyperreflexia	1	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.		24
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC			24
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC			24
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E			118
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0031826	HP:0001347	Hyperreflexia	1	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24	.		101
HP:0031826	HP:0001347	Hyperreflexia	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		5
HP:0031826	HP:0001347	Hyperreflexia	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0031826	HP:0001347	Hyperreflexia	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0031826	HP:0001347	Hyperreflexia	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0031826	HP:0002476	Primitive reflex	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0031826	HP:0002476	Primitive reflex	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0031826	HP:0001347	Hyperreflexia	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6			117
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6			117
HP:0031826	HP:0001347	Hyperreflexia	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.		117
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0031826	HP:0001347	Hyperreflexia	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent		2
HP:0031826	HP:0001347	Hyperreflexia	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.		2
HP:0031826	HP:0001347	Hyperreflexia	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0031826	HP:0001347	Hyperreflexia	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0031826	HP:0001347	Hyperreflexia	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040283 - Occasional		9
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0031826	HP:0001347	Hyperreflexia	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040282 - Frequent
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0031826	HP:0001347	Hyperreflexia	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		58
HP:0031826	HP:0001347	Hyperreflexia	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		102
HP:0031826	HP:0001347	Hyperreflexia	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent		102
HP:0031826	HP:0001347	Hyperreflexia	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0031826	HP:0001347	Hyperreflexia	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		30
HP:0031826	HP:0001347	Hyperreflexia	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1	.		544
HP:0031826	HP:0001347	Hyperreflexia	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0031826	HP:0001347	Hyperreflexia	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.		84
HP:0031826	HP:0001347	Hyperreflexia	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040282 - Frequent		15
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45			15
HP:0031826	HP:0001347	Hyperreflexia	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.		15
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive			15
HP:0031826	HP:0001347	Hyperreflexia	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0031826	HP:0001347	Hyperreflexia	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.		89
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0031826	HP:0001347	Hyperreflexia	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0031826	HP:0031828	Abnormal superficial reflex	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0031826	HP:0001347	Hyperreflexia	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			121
HP:0031826	HP:0001347	Hyperreflexia	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0031826	HP:0001347	Hyperreflexia	1	OCLN CL E G H	100506658	8104	ORPHA:1229	Congenital intrauterine infection-like syndrome	HP:0040281 - Very frequent		23
HP:0031826	HP:0001315	Reduced tendon reflexes	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0031826	HP:0001315	Reduced tendon reflexes	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0031826	HP:0001347	Hyperreflexia	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0031826	HP:0001347	Hyperreflexia	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		201
HP:0031826	HP:0001347	Hyperreflexia	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0031826	HP:0001315	Reduced tendon reflexes	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0031826	HP:0001315	Reduced tendon reflexes	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0031826	HP:0001347	Hyperreflexia	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0031826	HP:0031828	Abnormal superficial reflex	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0031826	HP:0001347	Hyperreflexia	1	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.		163
HP:0031826	HP:0031828	Abnormal superficial reflex	1	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III			163
HP:0031826	HP:0001315	Reduced tendon reflexes	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional		163
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2			19
HP:0031826	HP:0001347	Hyperreflexia	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0031826	HP:0001315	Reduced tendon reflexes	1	OTOG CL E G H	340990	8516	OMIM:614945	Deafness, autosomal recessive 18B			165
HP:0031826	HP:0001347	Hyperreflexia	1	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040283 - Occasional		641
HP:0031826	HP:0001347	Hyperreflexia	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0031826	HP:0001347	Hyperreflexia	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0031826	HP:0001347	Hyperreflexia	1	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent		55
HP:0031826	HP:0001347	Hyperreflexia	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent		55
HP:0031826	HP:0001347	Hyperreflexia	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0031826	HP:0001347	Hyperreflexia	1	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7			23
HP:0031826	HP:0001347	Hyperreflexia	1	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		23
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			26
HP:0031826	HP:0001347	Hyperreflexia	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	.		14
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0031826	HP:0001347	Hyperreflexia	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent		3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0031826	HP:0001347	Hyperreflexia	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0031826	HP:0001347	Hyperreflexia	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0031826	HP:0001347	Hyperreflexia	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.		6
HP:0031826	HP:0001347	Hyperreflexia	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0031826	HP:0001347	Hyperreflexia	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		116
HP:0031826	HP:0001347	Hyperreflexia	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		126
HP:0031826	HP:0001347	Hyperreflexia	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		18
HP:0031826	HP:0001347	Hyperreflexia	1	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant			75
HP:0031826	HP:0001347	Hyperreflexia	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		9
HP:0031826	HP:0001347	Hyperreflexia	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		28
HP:0031826	HP:0001347	Hyperreflexia	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional		37
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD			37
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2			40
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy
HP:0031826	HP:0001347	Hyperreflexia	1	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.		52
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23			52
HP:0031826	HP:0001347	Hyperreflexia	1	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040281 - Very frequent		52
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23			52
HP:0031826	HP:0001347	Hyperreflexia	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0031826	HP:0001347	Hyperreflexia	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0031826	HP:0001347	Hyperreflexia	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		169
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0031826	HP:0001347	Hyperreflexia	1	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040283 - Occasional		75
HP:0031826	HP:0001347	Hyperreflexia	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		75
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0031826	HP:0001347	Hyperreflexia	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0031826	HP:0001347	Hyperreflexia	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0031826	HP:0001347	Hyperreflexia	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		66
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0031826	HP:0001347	Hyperreflexia	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		46
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0031826	HP:0001347	Hyperreflexia	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		59
HP:0031826	HP:0001347	Hyperreflexia	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0031826	HP:0001347	Hyperreflexia	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		62
HP:0031826	HP:0001347	Hyperreflexia	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0031826	HP:0001347	Hyperreflexia	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		82
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0031826	HP:0001347	Hyperreflexia	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		106
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0031826	HP:0001347	Hyperreflexia	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		47
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0031826	HP:0001347	Hyperreflexia	1	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.		47
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0031826	HP:0001347	Hyperreflexia	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		99
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0031826	HP:0001347	Hyperreflexia	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		98
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0031826	HP:0001347	Hyperreflexia	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent		20
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67			20
HP:0031826	HP:0001347	Hyperreflexia	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0031826	HP:0001347	Hyperreflexia	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0031826	HP:0001347	Hyperreflexia	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		16
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0031826	HP:0001347	Hyperreflexia	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		11
HP:0031826	HP:0001347	Hyperreflexia	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0031826	HP:0002476	Primitive reflex	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0031826	HP:0001347	Hyperreflexia	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0031826	HP:0001347	Hyperreflexia	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0031826	HP:0002476	Primitive reflex	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome			7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0031826	HP:0001347	Hyperreflexia	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0031826	HP:0001347	Hyperreflexia	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	HP:0040282 - Frequent		37
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0031826	HP:0001347	Hyperreflexia	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0031826	HP:0001347	Hyperreflexia	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3			11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			11
HP:0031826	HP:0001347	Hyperreflexia	1	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.		55
HP:0031826	HP:0001347	Hyperreflexia	1	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		55
HP:0031826	HP:0001347	Hyperreflexia	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types	.		6
HP:0031826	HP:0001347	Hyperreflexia	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0031826	HP:0001347	Hyperreflexia	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent		133
HP:0031826	HP:0001347	Hyperreflexia	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent		133
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0031826	HP:0001347	Hyperreflexia	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B			133
HP:0031826	HP:0001347	Hyperreflexia	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.		133
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0031826	HP:0001347	Hyperreflexia	1	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12	.		119
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C			186
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0031826	HP:0001347	Hyperreflexia	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers			60
HP:0031826	HP:0001347	Hyperreflexia	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.		60
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0031826	HP:0001347	Hyperreflexia	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040281 - Very frequent		60
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2			60
HP:0031826	HP:0001347	Hyperreflexia	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0031826	HP:0001347	Hyperreflexia	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness			79
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A			79
HP:0031826	HP:0001347	Hyperreflexia	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A			79
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies			79
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies			79
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			79
HP:0031826	HP:0001347	Hyperreflexia	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3			7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2			7
HP:0031826	HP:0001347	Hyperreflexia	1	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.		7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4			244
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2			244
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay			244
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0031826	HP:0001347	Hyperreflexia	1	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent		103
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39			103
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0031826	HP:0001347	Hyperreflexia	1	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive	.		103
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive			103
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism			6
HP:0031826	HP:0001347	Hyperreflexia	1	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome			464
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0031826	HP:0031828	Abnormal superficial reflex	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome			464
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0031826	HP:0031828	Abnormal superficial reflex	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0031826	HP:0001347	Hyperreflexia	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		138
HP:0031826	HP:0031828	Abnormal superficial reflex	1	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			138
HP:0031826	HP:0001347	Hyperreflexia	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0031826	HP:0031828	Abnormal superficial reflex	1	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome			138
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0031826	HP:0001347	Hyperreflexia	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0031826	HP:0031828	Abnormal superficial reflex	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0031826	HP:0001347	Hyperreflexia	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		67
HP:0031826	HP:0031828	Abnormal superficial reflex	1	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism			67
HP:0031826	HP:0001347	Hyperreflexia	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.		67
HP:0031826	HP:0001347	Hyperreflexia	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		180
HP:0031826	HP:0001347	Hyperreflexia	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		180
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0031826	HP:0001347	Hyperreflexia	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		18
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0031826	HP:0001347	Hyperreflexia	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		213
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0031826	HP:0001347	Hyperreflexia	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		221
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0031826	HP:0001315	Reduced tendon reflexes	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0031826	HP:0001347	Hyperreflexia	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0031826	HP:0001347	Hyperreflexia	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0031826	HP:0001347	Hyperreflexia	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0031826	HP:0001347	Hyperreflexia	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional		41
HP:0031826	HP:0001347	Hyperreflexia	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0031826	HP:0001347	Hyperreflexia	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0031826	HP:0001347	Hyperreflexia	1	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.		5
HP:0031826	HP:0001347	Hyperreflexia	1	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040282 - Frequent		5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0031826	HP:0001347	Hyperreflexia	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0031826	HP:0001347	Hyperreflexia	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		39
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII			6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0031826	HP:0001347	Hyperreflexia	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0031826	HP:0001347	Hyperreflexia	1	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040282 - Frequent		1
HP:0031826	HP:0001347	Hyperreflexia	1	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10	.		1
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B			133
HP:0031826	HP:0001347	Hyperreflexia	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.		83
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14			83
HP:0031826	HP:0001347	Hyperreflexia	1	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2	.		138
HP:0031826	HP:0001347	Hyperreflexia	1	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		138
HP:0031826	HP:0001347	Hyperreflexia	1	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.		37
HP:0031826	HP:0001347	Hyperreflexia	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent		37
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0031826	HP:0001347	Hyperreflexia	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent		69
HP:0031826	HP:0001347	Hyperreflexia	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1			69
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0031826	HP:0001347	Hyperreflexia	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		110
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0031826	HP:0001347	Hyperreflexia	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		28
HP:0031826	HP:0001347	Hyperreflexia	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		70
HP:0031826	HP:0001347	Hyperreflexia	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		2
HP:0031826	HP:0001347	Hyperreflexia	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		51
HP:0031826	HP:0001347	Hyperreflexia	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		94
HP:0031826	HP:0001347	Hyperreflexia	1	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.		25
HP:0031826	HP:0001347	Hyperreflexia	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		159
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0031826	HP:0001347	Hyperreflexia	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	HP:0040283 - Occasional		49
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5			49
HP:0031826	HP:0001347	Hyperreflexia	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0031826	HP:0001347	Hyperreflexia	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0031826	HP:0001347	Hyperreflexia	1	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			94
HP:0031826	HP:0001347	Hyperreflexia	1	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1			73
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1			73
HP:0031826	HP:0001347	Hyperreflexia	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.		8
HP:0031826	HP:0001347	Hyperreflexia	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency			81
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0031826	HP:0001347	Hyperreflexia	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0031826	HP:0001347	Hyperreflexia	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0031826	HP:0001347	Hyperreflexia	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0031826	HP:0001347	Hyperreflexia	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040282 - Frequent		27
HP:0031826	HP:0001347	Hyperreflexia	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3			241
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3			241
HP:0031826	HP:0001347	Hyperreflexia	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		241
HP:0031826	HP:0002476	Primitive reflex	1	PSEN1 CL E G H	5663	9508	OMIM:600274	Frontotemporal dementia	.		241
HP:0031826	HP:0002476	Primitive reflex	1	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.		241
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0031826	HP:0001347	Hyperreflexia	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0031826	HP:0001347	Hyperreflexia	1	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.		19
HP:0031826	HP:0001347	Hyperreflexia	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0031826	HP:0001347	Hyperreflexia	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		11
HP:0031826	HP:0001347	Hyperreflexia	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0031826	HP:0031828	Abnormal superficial reflex	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10			11
HP:0031826	HP:0001347	Hyperreflexia	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0031826	HP:0001347	Hyperreflexia	1	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0031826	HP:0001347	Hyperreflexia	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0031826	HP:0002476	Primitive reflex	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0031826	HP:0001347	Hyperreflexia	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2			90
HP:0031826	HP:0001347	Hyperreflexia	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0031826	HP:0001347	Hyperreflexia	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0031826	HP:0001347	Hyperreflexia	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0031826	HP:0001347	Hyperreflexia	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		73
HP:0031826	HP:0001347	Hyperreflexia	1	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0031826	HP:0001347	Hyperreflexia	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0031826	HP:0001347	Hyperreflexia	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0031826	HP:0001347	Hyperreflexia	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		108
HP:0031826	HP:0001347	Hyperreflexia	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		45
HP:0031826	HP:0001315	Reduced tendon reflexes	1	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0031826	HP:0001347	Hyperreflexia	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31			87
HP:0031826	HP:0001347	Hyperreflexia	1	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional		87
HP:0031826	HP:0001315	Reduced tendon reflexes	1	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB			87
HP:0031826	HP:0001347	Hyperreflexia	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.		87
HP:0031826	HP:0031828	Abnormal superficial reflex	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant			87
HP:0031826	HP:0001347	Hyperreflexia	1	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.		3
HP:0031826	HP:0031828	Abnormal superficial reflex	1	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive			3
HP:0031826	HP:0001347	Hyperreflexia	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0031826	HP:0031828	Abnormal superficial reflex	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001347	Hyperreflexia	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0031826	HP:0001347	Hyperreflexia	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		28
HP:0031826	HP:0001347	Hyperreflexia	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		107
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0031826	HP:0001347	Hyperreflexia	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		47
HP:0031826	HP:0001347	Hyperreflexia	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.		7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040282 - Frequent		37
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0031826	HP:0001347	Hyperreflexia	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	HP:0040283 - Occasional		3
HP:0031826	HP:0031828	Abnormal superficial reflex	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2			3
HP:0031826	HP:0001347	Hyperreflexia	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.		60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0031826	HP:0001347	Hyperreflexia	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant			3
HP:0031826	HP:0031828	Abnormal superficial reflex	1	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant			3
HP:0031826	HP:0001347	Hyperreflexia	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0031826	HP:0031828	Abnormal superficial reflex	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0031826	HP:0001347	Hyperreflexia	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0031826	HP:0001347	Hyperreflexia	1	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0031826	HP:0001347	Hyperreflexia	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		38
HP:0031826	HP:0001347	Hyperreflexia	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		111
HP:0031826	HP:0001347	Hyperreflexia	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		284
HP:0031826	HP:0001347	Hyperreflexia	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		45
HP:0031826	HP:0001347	Hyperreflexia	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		14
HP:0031826	HP:0001347	Hyperreflexia	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		129
HP:0031826	HP:0001347	Hyperreflexia	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		200
HP:0031826	HP:0001347	Hyperreflexia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		167
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent		125
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5			125
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			77
HP:0031826	HP:0001347	Hyperreflexia	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent		25
HP:0031826	HP:0031828	Abnormal superficial reflex	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0031826	HP:0001347	Hyperreflexia	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.		25
HP:0031826	HP:0031828	Abnormal superficial reflex	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant			25
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0031826	HP:0001347	Hyperreflexia	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0031826	HP:0001347	Hyperreflexia	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0031826	HP:0031828	Abnormal superficial reflex	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy			1200
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0031826	HP:0001315	Reduced tendon reflexes	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement			1200
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0031826	HP:0001347	Hyperreflexia	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.		309
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0031826	HP:0001347	Hyperreflexia	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		32
HP:0031826	HP:0001347	Hyperreflexia	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent		4
HP:0031826	HP:0001347	Hyperreflexia	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0031826	HP:0001347	Hyperreflexia	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease	.		8
HP:0031826	HP:0001347	Hyperreflexia	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0031826	HP:0001347	Hyperreflexia	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040281 - Very frequent		263
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		263
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0031826	HP:0001347	Hyperreflexia	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040284 - Very rare		5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0031826	HP:0001347	Hyperreflexia	1	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	HP:0040283 - Occasional		5
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0031826	HP:0001347	Hyperreflexia	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0031826	HP:0001347	Hyperreflexia	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0031826	HP:0001347	Hyperreflexia	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0031826	HP:0001347	Hyperreflexia	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0031826	HP:0001347	Hyperreflexia	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0031826	HP:0001347	Hyperreflexia	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0031826	HP:0001347	Hyperreflexia	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0031826	HP:0001347	Hyperreflexia	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0031826	HP:0001347	Hyperreflexia	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0031826	HP:0001347	Hyperreflexia	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0031826	HP:0001347	Hyperreflexia	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		48
HP:0031826	HP:0001347	Hyperreflexia	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0031826	HP:0001347	Hyperreflexia	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D			66
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic
HP:0031826	HP:0001347	Hyperreflexia	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0031826	HP:0001347	Hyperreflexia	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.		162
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile			162
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4			162
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2			162
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0031826	HP:0001347	Hyperreflexia	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0031826	HP:0001347	Hyperreflexia	1	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.		6
HP:0031826	HP:0001347	Hyperreflexia	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2			6
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2			6
HP:0031826	HP:0001347	Hyperreflexia	1	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent		40
HP:0031826	HP:0001347	Hyperreflexia	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0031826	HP:0001347	Hyperreflexia	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent		57
HP:0031826	HP:0001347	Hyperreflexia	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome			57
HP:0031826	HP:0001347	Hyperreflexia	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.		2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0031826	HP:0001347	Hyperreflexia	1	SLC19A3 CL E G H	80704	16266	ORPHA:263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	HP:0040282 - Frequent		110
HP:0031826	HP:0001347	Hyperreflexia	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0031826	HP:0001347	Hyperreflexia	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0031826	HP:0001347	Hyperreflexia	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.		4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0031826	HP:0001347	Hyperreflexia	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040281 - Very frequent		4
HP:0031826	HP:0001347	Hyperreflexia	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.		70
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic			28
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0031826	HP:0001347	Hyperreflexia	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.		44
HP:0031826	HP:0001347	Hyperreflexia	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040281 - Very frequent		88
HP:0031826	HP:0001347	Hyperreflexia	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0031826	HP:0001347	Hyperreflexia	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0031826	HP:0001347	Hyperreflexia	1	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent		166
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0031826	HP:0001347	Hyperreflexia	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0031826	HP:0001347	Hyperreflexia	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0031826	HP:0001347	Hyperreflexia	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0031826	HP:0001347	Hyperreflexia	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0031826	HP:0001347	Hyperreflexia	1	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.		255
HP:0031826	HP:0001347	Hyperreflexia	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0031826	HP:0001347	Hyperreflexia	1	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040282 - Frequent		255
HP:0031826	HP:0001347	Hyperreflexia	1	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia			255
HP:0031826	HP:0001347	Hyperreflexia	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0031826	HP:0001347	Hyperreflexia	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040281 - Very frequent		1
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0031826	HP:0001347	Hyperreflexia	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent		48
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42			48
HP:0031826	HP:0001347	Hyperreflexia	1	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant			48
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant			48
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf			24
HP:0031826	HP:0001347	Hyperreflexia	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0031826	HP:0001347	Hyperreflexia	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0031826	HP:0001347	Hyperreflexia	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.		5
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0031826	HP:0001347	Hyperreflexia	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0031826	HP:0001347	Hyperreflexia	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0031826	HP:0001347	Hyperreflexia	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0031826	HP:0001347	Hyperreflexia	1	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional		101
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0031826	HP:0001347	Hyperreflexia	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0031826	HP:0001347	Hyperreflexia	1	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0031826	HP:0001347	Hyperreflexia	1	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent		12
HP:0031826	HP:0001347	Hyperreflexia	1	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder	.		12
HP:0031826	HP:0001347	Hyperreflexia	1	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		81
HP:0031826	HP:0001347	Hyperreflexia	1	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0031826	HP:0001347	Hyperreflexia	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0031826	HP:0001347	Hyperreflexia	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		4
HP:0031826	HP:0001347	Hyperreflexia	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0031826	HP:0001347	Hyperreflexia	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0031826	HP:0001347	Hyperreflexia	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV			22
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0031826	HP:0001347	Hyperreflexia	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		65
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome			65
HP:0031826	HP:0001347	Hyperreflexia	1	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0031826	HP:0001347	Hyperreflexia	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		83
HP:0031826	HP:0001347	Hyperreflexia	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome			37
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0031826	HP:0001347	Hyperreflexia	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0031826	HP:0001347	Hyperreflexia	1	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.		53
HP:0031826	HP:0001347	Hyperreflexia	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0031826	HP:0001347	Hyperreflexia	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0031826	HP:0001347	Hyperreflexia	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0031826	HP:0001347	Hyperreflexia	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4			208
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4			208
HP:0031826	HP:0001347	Hyperreflexia	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0031826	HP:0001347	Hyperreflexia	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		48
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0031826	HP:0001347	Hyperreflexia	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.		287
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0031826	HP:0001347	Hyperreflexia	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0031826	HP:0001347	Hyperreflexia	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0031826	HP:0001347	Hyperreflexia	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0031826	HP:0001347	Hyperreflexia	1	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent		28
HP:0031826	HP:0002476	Primitive reflex	1	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent		28
HP:0031826	HP:0001347	Hyperreflexia	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.		28
HP:0031826	HP:0002476	Primitive reflex	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	HP:0040283 - Occasional		28
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0031826	HP:0001347	Hyperreflexia	1	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis			171
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis			171
HP:0031826	HP:0001347	Hyperreflexia	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0031826	HP:0001347	Hyperreflexia	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0031826	HP:0001347	Hyperreflexia	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent		28
HP:0031826	HP:0001347	Hyperreflexia	1	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.		416
HP:0031826	HP:0001347	Hyperreflexia	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031826	HP:0001347	Hyperreflexia	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		126
HP:0031826	HP:0001347	Hyperreflexia	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.		126
HP:0031826	HP:0001347	Hyperreflexia	1	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	HP:0040283 - Occasional		126
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0031826	HP:0001347	Hyperreflexia	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0031826	HP:0001347	Hyperreflexia	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0031826	HP:0001347	Hyperreflexia	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		62
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3			62
HP:0031826	HP:0001347	Hyperreflexia	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV			62
HP:0031826	HP:0001347	Hyperreflexia	1	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.		62
HP:0031826	HP:0001347	Hyperreflexia	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent		50
HP:0031826	HP:0002476	Primitive reflex	1	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15	.		41
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0031826	HP:0001347	Hyperreflexia	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0031826	HP:0001315	Reduced tendon reflexes	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch			14
HP:0031826	HP:0001315	Reduced tendon reflexes	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040283 - Occasional		14
HP:0031826	HP:0001347	Hyperreflexia	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0031826	HP:0001347	Hyperreflexia	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		99
HP:0031826	HP:0001315	Reduced tendon reflexes	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0031826	HP:0001347	Hyperreflexia	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040282 - Frequent		14
HP:0031826	HP:0001347	Hyperreflexia	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0031826	HP:0031828	Abnormal superficial reflex	1	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0031826	HP:0001347	Hyperreflexia	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0031826	HP:0031828	Abnormal superficial reflex	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0031826	HP:0001315	Reduced tendon reflexes	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0031826	HP:0001347	Hyperreflexia	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0031826	HP:0001347	Hyperreflexia	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K			73
HP:0031826	HP:0001347	Hyperreflexia	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0031826	HP:0001347	Hyperreflexia	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent		1129
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040282 - Frequent		1129
HP:0031826	HP:0001347	Hyperreflexia	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040282 - Frequent		1129
HP:0031826	HP:0031828	Abnormal superficial reflex	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent		508
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0031826	HP:0001347	Hyperreflexia	1	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18			123
HP:0031826	HP:0001315	Reduced tendon reflexes	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0031826	HP:0001347	Hyperreflexia	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0031826	HP:0001347	Hyperreflexia	1	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome			21
HP:0031826	HP:0001347	Hyperreflexia	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		2
HP:0031826	HP:0001347	Hyperreflexia	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.		7
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0031826	HP:0001347	Hyperreflexia	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent		7
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0031826	HP:0001347	Hyperreflexia	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0031826	HP:0001347	Hyperreflexia	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0031826	HP:0001347	Hyperreflexia	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0031826	HP:0001347	Hyperreflexia	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040282 - Frequent		13
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4			20
HP:0031826	HP:0001347	Hyperreflexia	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0031826	HP:0001347	Hyperreflexia	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		20
HP:0031826	HP:0001347	Hyperreflexia	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001347	Hyperreflexia	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G			78
HP:0031826	HP:0001347	Hyperreflexia	1	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.		76
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1			52
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation			39
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive			39
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			238
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57			18
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type			18
HP:0031826	HP:0001347	Hyperreflexia	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.		18
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0031826	HP:0001347	Hyperreflexia	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.		58
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0031826	HP:0001347	Hyperreflexia	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040282 - Frequent		58
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0031826	HP:0001347	Hyperreflexia	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0031826	HP:0001347	Hyperreflexia	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		6
HP:0031826	HP:0001347	Hyperreflexia	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040283 - Occasional		1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0031826	HP:0001347	Hyperreflexia	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	HP:0040284 - Very rare		1
HP:0031826	HP:0001347	Hyperreflexia	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0031826	HP:0001347	Hyperreflexia	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome			60
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0031826	HP:0001347	Hyperreflexia	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		3
HP:0031826	HP:0001347	Hyperreflexia	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0031826	HP:0001347	Hyperreflexia	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21			9
HP:0031826	HP:0001347	Hyperreflexia	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent		171
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0031826	HP:0001347	Hyperreflexia	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0031826	HP:0001347	Hyperreflexia	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0031826	HP:0001347	Hyperreflexia	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		166
HP:0031826	HP:0001347	Hyperreflexia	1	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS			2
HP:0031826	HP:0001347	Hyperreflexia	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0031826	HP:0001347	Hyperreflexia	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional		6
HP:0031826	HP:0001347	Hyperreflexia	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0031826	HP:0001347	Hyperreflexia	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		61
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0031826	HP:0001347	Hyperreflexia	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent		54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040282 - Frequent		108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0031826	HP:0001347	Hyperreflexia	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent		203
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0031826	HP:0001347	Hyperreflexia	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.		203
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7			203
HP:0031826	HP:0001347	Hyperreflexia	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		2
HP:0031826	HP:0001347	Hyperreflexia	1	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0031826	HP:0001347	Hyperreflexia	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional		27
HP:0031826	HP:0001347	Hyperreflexia	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0031826	HP:0001347	Hyperreflexia	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0031826	HP:0001347	Hyperreflexia	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		31
HP:0031826	HP:0002476	Primitive reflex	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0031826	HP:0001347	Hyperreflexia	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R			3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040281 - Very frequent		78
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0031826	HP:0001347	Hyperreflexia	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0031826	HP:0001347	Hyperreflexia	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0031826	HP:0001347	Hyperreflexia	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0031826	HP:0001347	Hyperreflexia	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0031826	HP:0001347	Hyperreflexia	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0031826	HP:0001347	Hyperreflexia	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0031826	HP:0001347	Hyperreflexia	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0031826	HP:0001347	Hyperreflexia	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0031826	HP:0001347	Hyperreflexia	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0031826	HP:0001347	Hyperreflexia	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0031826	HP:0001347	Hyperreflexia	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0031826	HP:0001347	Hyperreflexia	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	HP:0040283 - Occasional		3
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0031826	HP:0001347	Hyperreflexia	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B			84
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B			84
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0031826	HP:0001347	Hyperreflexia	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome			1
HP:0031826	HP:0001347	Hyperreflexia	1	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11	.		57
HP:0031826	HP:0001347	Hyperreflexia	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	HP:0040283 - Occasional		88
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2			88
HP:0031826	HP:0001347	Hyperreflexia	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		41
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF			62
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0031826	HP:0001347	Hyperreflexia	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia			21
HP:0031826	HP:0001347	Hyperreflexia	1	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		39
HP:0031826	HP:0002476	Primitive reflex	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0031826	HP:0001347	Hyperreflexia	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0031826	HP:0001347	Hyperreflexia	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		66
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TWNK CL E G H	56652	1160	ORPHA:1186	Infantile-onset spinocerebellar ataxia	HP:0040281 - Very frequent		113
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)			113
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5			113
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0031826	HP:0001315	Reduced tendon reflexes	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0031826	HP:0002476	Primitive reflex	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0031826	HP:0031828	Abnormal superficial reflex	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0031826	HP:0001315	Reduced tendon reflexes	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0031826	HP:0001315	Reduced tendon reflexes	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0031826	HP:0001315	Reduced tendon reflexes	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0031826	HP:0001347	Hyperreflexia	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0031826	HP:0001347	Hyperreflexia	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0031826	HP:0031828	Abnormal superficial reflex	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0031826	HP:0001347	Hyperreflexia	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	.
HP:0031826	HP:0031828	Abnormal superficial reflex	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0031826	HP:0001347	Hyperreflexia	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0031826	HP:0001347	Hyperreflexia	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome			278
HP:0031826	HP:0001347	Hyperreflexia	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation			278
HP:0031826	HP:0001347	Hyperreflexia	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion			278
HP:0031826	HP:0001347	Hyperreflexia	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15			278
HP:0031826	HP:0001347	Hyperreflexia	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0031826	HP:0031828	Abnormal superficial reflex	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0031826	HP:0001347	Hyperreflexia	1	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		21
HP:0031826	HP:0001347	Hyperreflexia	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0031826	HP:0001315	Reduced tendon reflexes	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0031826	HP:0001347	Hyperreflexia	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0031826	HP:0031828	Abnormal superficial reflex	1	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0031826	HP:0001347	Hyperreflexia	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0031826	HP:0001347	Hyperreflexia	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		5
HP:0031826	HP:0001347	Hyperreflexia	1	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.		34
HP:0031826	HP:0001347	Hyperreflexia	1	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria			8
HP:0031826	HP:0001347	Hyperreflexia	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		777
HP:0031826	HP:0001347	Hyperreflexia	1	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59			7
HP:0031826	HP:0001347	Hyperreflexia	1	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.		6
HP:0031826	HP:0001347	Hyperreflexia	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040281 - Very frequent		2
HP:0031826	HP:0031828	Abnormal superficial reflex	1	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1			2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0031826	HP:0001347	Hyperreflexia	1	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.		2
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040282 - Frequent		111
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included			116
HP:0031826	HP:0001347	Hyperreflexia	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0031826	HP:0031828	Abnormal superficial reflex	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0031826	HP:0001347	Hyperreflexia	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		63
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y			63
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0031826	HP:0031828	Abnormal superficial reflex	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0031826	HP:0001347	Hyperreflexia	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0031826	HP:0031828	Abnormal superficial reflex	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0031826	HP:0001347	Hyperreflexia	1	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.		111
HP:0031826	HP:0001347	Hyperreflexia	1	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		111
HP:0031826	HP:0001347	Hyperreflexia	1	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent		130
HP:0031826	HP:0001347	Hyperreflexia	1	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset	HP:0040283 - Occasional		8
HP:0031826	HP:0001347	Hyperreflexia	1	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0031826	HP:0001347	Hyperreflexia	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0031826	HP:0031828	Abnormal superficial reflex	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0031826	HP:0001347	Hyperreflexia	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0031826	HP:0001347	Hyperreflexia	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0031826	HP:0001347	Hyperreflexia	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0031826	HP:0001347	Hyperreflexia	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0031826	HP:0001347	Hyperreflexia	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.		32
HP:0031826	HP:0001315	Reduced tendon reflexes	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0031826	HP:0001347	Hyperreflexia	1	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22			1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX
HP:0031826	HP:0001347	Hyperreflexia	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0031826	HP:0001347	Hyperreflexia	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent		2
HP:0031826	HP:0001347	Hyperreflexia	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent		83
HP:0031826	HP:0031828	Abnormal superficial reflex	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0031826	HP:0001347	Hyperreflexia	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.		83
HP:0031826	HP:0031828	Abnormal superficial reflex	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0031826	HP:0001347	Hyperreflexia	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0031826	HP:0001347	Hyperreflexia	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		224
HP:0031826	HP:0001347	Hyperreflexia	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.		224
HP:0031826	HP:0001347	Hyperreflexia	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0031826	HP:0001315	Reduced tendon reflexes	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2			27
HP:0031826	HP:0001347	Hyperreflexia	1	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent		27
HP:0031826	HP:0001347	Hyperreflexia	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0031826	HP:0001315	Reduced tendon reflexes	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0031826	HP:0001315	Reduced tendon reflexes	1	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency			149
HP:0031826	HP:0001347	Hyperreflexia	1	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	.		149
HP:0031826	HP:0001315	Reduced tendon reflexes	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0031826	HP:0001315	Reduced tendon reflexes	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0031826	HP:0031828	Abnormal superficial reflex	1	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0031826	HP:0001315	Reduced tendon reflexes	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0031826	HP:0001315	Reduced tendon reflexes	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		34
HP:0031826	HP:0001315	Reduced tendon reflexes	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0031826	HP:0001315	Reduced tendon reflexes	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		86
HP:0031826	HP:0001315	Reduced tendon reflexes	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0031826	HP:0001347	Hyperreflexia	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0031826	HP:0001315	Reduced tendon reflexes	1	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0031826	HP:0001315	Reduced tendon reflexes	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0031826	HP:0001347	Hyperreflexia	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0031826	HP:0001347	Hyperreflexia	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0031826	HP:0001347	Hyperreflexia	1	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent		1
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71			1
HP:0031826	HP:0001347	Hyperreflexia	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0031826	HP:0001347	Hyperreflexia	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0031826	HP:0001347	Hyperreflexia	1	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.		52
HP:0031826	HP:0031828	Abnormal superficial reflex	1	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant			52
HP:0031826	HP:0001347	Hyperreflexia	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		14
HP:0031826	HP:0001347	Hyperreflexia	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional		27
HP:0031826	HP:0001347	Hyperreflexia	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0031826	HP:0001347	Hyperreflexia	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0031826	HP:0001315	Reduced tendon reflexes	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features			5
HP:0031826	HP:0030905	Snout reflex	2	CL E G H
HP:0031826	HP:0031827	Absent abdominal reflex	2	CL E G H
HP:0031826	HP:0031829	Absent cremaster reflex	2	CL E G H
HP:0031826	HP:0032549	Persistent asymmetrical tonic neck reflex	2	CL E G H
HP:0031826	HP:0033330	Impaired neck-righting reflex	2	CL E G H
HP:0031826	HP:0003487	Babinski sign	2	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0031826	HP:0001265	Hyporeflexia	2	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0031826	HP:0001284	Areflexia	2	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0031826	HP:0001284	Areflexia	2	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0031826	HP:0030903	Grasp reflex	2	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0031826	HP:0001265	Hyporeflexia	2	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0031826	HP:0001284	Areflexia	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0031826	HP:0002169	Clonus	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0031826	HP:0003487	Babinski sign	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0031826	HP:0001265	Hyporeflexia	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0031826	HP:0001348	Brisk reflexes	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional		15
HP:0031826	HP:0001265	Hyporeflexia	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0031826	HP:0002169	Clonus	2	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.		35
HP:0031826	HP:0003487	Babinski sign	2	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.		35
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0031826	HP:0007054	Proximal hyperreflexia	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0031826	HP:0003487	Babinski sign	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent		135
HP:0031826	HP:0002169	Clonus	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0031826	HP:0007034	Generalized hyperreflexia	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0031826	HP:0001265	Hyporeflexia	2	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.		50
HP:0031826	HP:0003487	Babinski sign	2	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.		50
HP:0031826	HP:0003487	Babinski sign	2	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0031826	HP:0001284	Areflexia	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0031826	HP:0001265	Hyporeflexia	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0031826	HP:0001265	Hyporeflexia	2	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		11
HP:0031826	HP:0001284	Areflexia	2	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0031826	HP:0001265	Hyporeflexia	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0031826	HP:0001284	Areflexia	2	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0031826	HP:0001265	Hyporeflexia	2	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0031826	HP:0001284	Areflexia	2	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0031826	HP:0003487	Babinski sign	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0031826	HP:0001265	Hyporeflexia	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		96
HP:0031826	HP:0001284	Areflexia	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0031826	HP:0001284	Areflexia	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0031826	HP:0001265	Hyporeflexia	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0031826	HP:0001284	Areflexia	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		96
HP:0031826	HP:0001265	Hyporeflexia	2	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.		96
HP:0031826	HP:0001284	Areflexia	2	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.		96
HP:0031826	HP:0001265	Hyporeflexia	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0031826	HP:0001284	Areflexia	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0031826	HP:0001265	Hyporeflexia	2	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		96
HP:0031826	HP:0001265	Hyporeflexia	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		96
HP:0031826	HP:0001265	Hyporeflexia	2	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0031826	HP:0003487	Babinski sign	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		116
HP:0031826	HP:0001284	Areflexia	2	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8	.		2
HP:0031826	HP:0002169	Clonus	2	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0031826	HP:0003487	Babinski sign	2	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal	.		88
HP:0031826	HP:0003487	Babinski sign	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0031826	HP:0001348	Brisk reflexes	2	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0031826	HP:0001265	Hyporeflexia	2	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0031826	HP:0001265	Hyporeflexia	2	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.		86
HP:0031826	HP:0003487	Babinski sign	2	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.		86
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040281 - Very frequent		86
HP:0031826	HP:0003487	Babinski sign	2	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040282 - Frequent		86
HP:0031826	HP:0001265	Hyporeflexia	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0031826	HP:0001284	Areflexia	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0031826	HP:0001265	Hyporeflexia	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0031826	HP:0001265	Hyporeflexia	2	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.		60
HP:0031826	HP:0001284	Areflexia	2	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0031826	HP:0001284	Areflexia	2	AIFM1 CL E G H	9131	8768	OMIM:300614	Deafness, X-linked 5	.		60
HP:0031826	HP:0003487	Babinski sign	2	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent		60
HP:0031826	HP:0001284	Areflexia	2	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent		60
HP:0031826	HP:0003487	Babinski sign	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration			60
HP:0031826	HP:0001284	Areflexia	2	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040281 - Very frequent		60
HP:0031826	HP:0001348	Brisk reflexes	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040281 - Very frequent		89
HP:0031826	HP:0003487	Babinski sign	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040282 - Frequent		89
HP:0031826	HP:0007054	Proximal hyperreflexia	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			89
HP:0031826	HP:0001284	Areflexia	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0031826	HP:0003487	Babinski sign	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent		89
HP:0031826	HP:0007054	Proximal hyperreflexia	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0031826	HP:0001284	Areflexia	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040281 - Very frequent		89
HP:0031826	HP:0003487	Babinski sign	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040281 - Very frequent		89
HP:0031826	HP:0007054	Proximal hyperreflexia	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0031826	HP:0001348	Brisk reflexes	2	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.		89
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0031826	HP:0003487	Babinski sign	2	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.		89
HP:0031826	HP:0003487	Babinski sign	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.		89
HP:0031826	HP:0001284	Areflexia	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0031826	HP:0001265	Hyporeflexia	2	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0031826	HP:0001284	Areflexia	2	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0031826	HP:0001284	Areflexia	2	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		12
HP:0031826	HP:0001284	Areflexia	2	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		46
HP:0031826	HP:0001284	Areflexia	2	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.		66
HP:0031826	HP:0002169	Clonus	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0031826	HP:0003487	Babinski sign	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.		114
HP:0031826	HP:0001348	Brisk reflexes	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		114
HP:0031826	HP:0002169	Clonus	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0031826	HP:0003487	Babinski sign	2	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.		114
HP:0031826	HP:0003487	Babinski sign	2	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0031826	HP:0001284	Areflexia	2	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD			62
HP:0031826	HP:0002169	Clonus	2	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.		21
HP:0031826	HP:0002169	Clonus	2	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0031826	HP:0003487	Babinski sign	2	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive			21
HP:0031826	HP:0001265	Hyporeflexia	2	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0031826	HP:0001348	Brisk reflexes	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		64
HP:0031826	HP:0002169	Clonus	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0031826	HP:0001265	Hyporeflexia	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031826	HP:0001284	Areflexia	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031826	HP:0003487	Babinski sign	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0031826	HP:0001265	Hyporeflexia	2	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48			7
HP:0031826	HP:0001265	Hyporeflexia	2	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		7
HP:0031826	HP:0003487	Babinski sign	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		49
HP:0031826	HP:0003487	Babinski sign	2	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.		49
HP:0031826	HP:0003487	Babinski sign	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		48
HP:0031826	HP:0003487	Babinski sign	2	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.		48
HP:0031826	HP:0003487	Babinski sign	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		41
HP:0031826	HP:0003487	Babinski sign	2	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.		41
HP:0031826	HP:0003487	Babinski sign	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent		18
HP:0031826	HP:0003487	Babinski sign	2	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.		18
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.		39
HP:0031826	HP:0003487	Babinski sign	2	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.		39
HP:0031826	HP:0001265	Hyporeflexia	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0031826	HP:0001284	Areflexia	2	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0031826	HP:0001265	Hyporeflexia	2	AR CL E G H	367	644	ORPHA:481	Kennedy disease	HP:0040281 - Very frequent		125
HP:0031826	HP:0001265	Hyporeflexia	2	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.		125
HP:0031826	HP:0001265	Hyporeflexia	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61			1
HP:0031826	HP:0007054	Proximal hyperreflexia	2	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61			1
HP:0031826	HP:0001284	Areflexia	2	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive			1
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive			1
HP:0031826	HP:0007054	Proximal hyperreflexia	2	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive			1
HP:0031826	HP:0001265	Hyporeflexia	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0031826	HP:0003487	Babinski sign	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0031826	HP:0001265	Hyporeflexia	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0031826	HP:0003487	Babinski sign	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0031826	HP:0001265	Hyporeflexia	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		253
HP:0031826	HP:0003487	Babinski sign	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0031826	HP:0001265	Hyporeflexia	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		253
HP:0031826	HP:0003487	Babinski sign	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		253
HP:0031826	HP:0001284	Areflexia	2	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent		1
HP:0031826	HP:0001265	Hyporeflexia	2	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0031826	HP:0003487	Babinski sign	2	ARX CL E G H	170302	18060	OMIM:300419	Mental retardation, X-linked, with or without seizures, arx-related			166
HP:0031826	HP:0001284	Areflexia	2	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0031826	HP:0001284	Areflexia	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0031826	HP:0003487	Babinski sign	2	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040283 - Occasional		48
HP:0031826	HP:0003487	Babinski sign	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent		48
HP:0031826	HP:0001348	Brisk reflexes	2	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0031826	HP:0003487	Babinski sign	2	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25			1
HP:0031826	HP:0002169	Clonus	2	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040281 - Very frequent		71
HP:0031826	HP:0003487	Babinski sign	2	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040281 - Very frequent		71
HP:0031826	HP:0003487	Babinski sign	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.		71
HP:0031826	HP:0001265	Hyporeflexia	2	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF			5
HP:0031826	HP:0001265	Hyporeflexia	2	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0031826	HP:0001284	Areflexia	2	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0031826	HP:0003487	Babinski sign	2	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040282 - Frequent		100
HP:0031826	HP:0003487	Babinski sign	2	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent		100
HP:0031826	HP:0001348	Brisk reflexes	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent		100
HP:0031826	HP:0003487	Babinski sign	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0031826	HP:0003487	Babinski sign	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent		100
HP:0031826	HP:0007054	Proximal hyperreflexia	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0031826	HP:0030902	Palmomental reflex	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0031826	HP:0003487	Babinski sign	2	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78			100
HP:0031826	HP:0001265	Hyporeflexia	2	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.		4
HP:0031826	HP:0001284	Areflexia	2	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.		4
HP:0031826	HP:0001284	Areflexia	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0031826	HP:0001265	Hyporeflexia	2	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		239
HP:0031826	HP:0001284	Areflexia	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0031826	HP:0001284	Areflexia	2	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0031826	HP:0001284	Areflexia	2	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	HP:0040281 - Very frequent		150
HP:0031826	HP:0001265	Hyporeflexia	2	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		150
HP:0031826	HP:0003487	Babinski sign	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0031826	HP:0001265	Hyporeflexia	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0003487	Babinski sign	2	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040283 - Occasional
HP:0031826	HP:0003487	Babinski sign	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0031826	HP:0001265	Hyporeflexia	2	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0031826	HP:0003487	Babinski sign	2	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0031826	HP:0003487	Babinski sign	2	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	HP:0040283 - Occasional		36
HP:0031826	HP:0001265	Hyporeflexia	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0031826	HP:0001284	Areflexia	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0031826	HP:0003487	Babinski sign	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional		36
HP:0031826	HP:0002169	Clonus	2	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome			36
HP:0031826	HP:0003487	Babinski sign	2	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040282 - Frequent		36
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040282 - Frequent		36
HP:0031826	HP:0001265	Hyporeflexia	2	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0031826	HP:0001265	Hyporeflexia	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0031826	HP:0003487	Babinski sign	2	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0031826	HP:0001265	Hyporeflexia	2	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3	.		192
HP:0031826	HP:0001284	Areflexia	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0031826	HP:0003487	Babinski sign	2	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0031826	HP:0001265	Hyporeflexia	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional		19
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional		19
HP:0031826	HP:0003487	Babinski sign	2	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0031826	HP:0001265	Hyporeflexia	2	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional		9
HP:0031826	HP:0003487	Babinski sign	2	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional		9
HP:0031826	HP:0001265	Hyporeflexia	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0031826	HP:0003487	Babinski sign	2	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0031826	HP:0001265	Hyporeflexia	2	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent		11
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040283 - Occasional		11
HP:0031826	HP:0001284	Areflexia	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0031826	HP:0003487	Babinski sign	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0031826	HP:0003487	Babinski sign	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent		14
HP:0031826	HP:0003487	Babinski sign	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent		14
HP:0031826	HP:0003487	Babinski sign	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0031826	HP:0003487	Babinski sign	2	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.		8
HP:0031826	HP:0003487	Babinski sign	2	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0031826	HP:0001265	Hyporeflexia	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		43
HP:0031826	HP:0001284	Areflexia	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		43
HP:0031826	HP:0001265	Hyporeflexia	2	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040284 - Very rare		25
HP:0031826	HP:0003487	Babinski sign	2	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040282 - Frequent		25
HP:0031826	HP:0001265	Hyporeflexia	2	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.		25
HP:0031826	HP:0003487	Babinski sign	2	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.		25
HP:0031826	HP:0001265	Hyporeflexia	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		17
HP:0031826	HP:0001284	Areflexia	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		17
HP:0031826	HP:0001265	Hyporeflexia	2	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0031826	HP:0001348	Brisk reflexes	2	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0031826	HP:0001265	Hyporeflexia	2	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040282 - Frequent		1
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040283 - Occasional		1
HP:0031826	HP:0001265	Hyporeflexia	2	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040283 - Occasional		46
HP:0031826	HP:0001265	Hyporeflexia	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.		46
HP:0031826	HP:0001284	Areflexia	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.		46
HP:0031826	HP:0003487	Babinski sign	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0031826	HP:0001284	Areflexia	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0031826	HP:0001284	Areflexia	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0031826	HP:0001284	Areflexia	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0031826	HP:0002169	Clonus	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.		20
HP:0031826	HP:0003487	Babinski sign	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.		20
HP:0031826	HP:0003487	Babinski sign	2	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040282 - Frequent		105
HP:0031826	HP:0003487	Babinski sign	2	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C			105
HP:0031826	HP:0001348	Brisk reflexes	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent		105
HP:0031826	HP:0003487	Babinski sign	2	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.		105
HP:0031826	HP:0001265	Hyporeflexia	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0031826	HP:0001284	Areflexia	2	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0031826	HP:0001348	Brisk reflexes	2	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent		114
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0031826	HP:0003487	Babinski sign	2	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040281 - Very frequent		114
HP:0031826	HP:0007054	Proximal hyperreflexia	2	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0031826	HP:0003487	Babinski sign	2	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040281 - Very frequent		114
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent		114
HP:0031826	HP:0001265	Hyporeflexia	2	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0031826	HP:0003487	Babinski sign	2	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0031826	HP:0001265	Hyporeflexia	2	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.		114
HP:0031826	HP:0003487	Babinski sign	2	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.		114
HP:0031826	HP:0001265	Hyporeflexia	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		56
HP:0031826	HP:0003487	Babinski sign	2	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		56
HP:0031826	HP:0001284	Areflexia	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0031826	HP:0001265	Hyporeflexia	2	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		449
HP:0031826	HP:0003487	Babinski sign	2	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent		449
HP:0031826	HP:0001265	Hyporeflexia	2	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0031826	HP:0003487	Babinski sign	2	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0031826	HP:0003487	Babinski sign	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent		32
HP:0031826	HP:0001265	Hyporeflexia	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent		247
HP:0031826	HP:0001265	Hyporeflexia	2	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		59
HP:0031826	HP:0001284	Areflexia	2	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0031826	HP:0001348	Brisk reflexes	2	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0031826	HP:0001348	Brisk reflexes	2	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare		34
HP:0031826	HP:0002169	Clonus	2	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76			4
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040281 - Very frequent		4
HP:0031826	HP:0003487	Babinski sign	2	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040281 - Very frequent		4
HP:0031826	HP:0007054	Proximal hyperreflexia	2	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76			4
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0031826	HP:0003487	Babinski sign	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0031826	HP:0007054	Proximal hyperreflexia	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0031826	HP:0001348	Brisk reflexes	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0031826	HP:0002169	Clonus	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0031826	HP:0001265	Hyporeflexia	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0031826	HP:0007034	Generalized hyperreflexia	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0031826	HP:0001284	Areflexia	2	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0031826	HP:0002169	Clonus	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0031826	HP:0003487	Babinski sign	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0031826	HP:0002169	Clonus	2	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040282 - Frequent		56
HP:0031826	HP:0003487	Babinski sign	2	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040282 - Frequent		56
HP:0031826	HP:0002169	Clonus	2	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.		56
HP:0031826	HP:0003487	Babinski sign	2	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.		56
HP:0031826	HP:0002169	Clonus	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0031826	HP:0001284	Areflexia	2	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	.		3
HP:0031826	HP:0001348	Brisk reflexes	2	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0031826	HP:0001265	Hyporeflexia	2	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0031826	HP:0001284	Areflexia	2	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.		3
HP:0031826	HP:0001265	Hyporeflexia	2	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0031826	HP:0001284	Areflexia	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7	.		35
HP:0031826	HP:0001265	Hyporeflexia	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		35
HP:0031826	HP:0001265	Hyporeflexia	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0031826	HP:0001284	Areflexia	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0031826	HP:0001265	Hyporeflexia	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0031826	HP:0001284	Areflexia	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0031826	HP:0003487	Babinski sign	2	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0031826	HP:0001265	Hyporeflexia	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		11
HP:0031826	HP:0003487	Babinski sign	2	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		11
HP:0031826	HP:0001265	Hyporeflexia	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent		11
HP:0031826	HP:0001284	Areflexia	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent		11
HP:0031826	HP:0001265	Hyporeflexia	2	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.		11
HP:0031826	HP:0001284	Areflexia	2	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.		11
HP:0031826	HP:0001348	Brisk reflexes	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0031826	HP:0003487	Babinski sign	2	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0031826	HP:0003487	Babinski sign	2	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0031826	HP:0001265	Hyporeflexia	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0031826	HP:0001265	Hyporeflexia	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0031826	HP:0003487	Babinski sign	2	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0031826	HP:0001284	Areflexia	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0031826	HP:0001265	Hyporeflexia	2	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0031826	HP:0001265	Hyporeflexia	2	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0031826	HP:0001265	Hyporeflexia	2	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		18
HP:0031826	HP:0001348	Brisk reflexes	2	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0031826	HP:0003487	Babinski sign	2	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0031826	HP:0001284	Areflexia	2	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0031826	HP:0001284	Areflexia	2	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0031826	HP:0001265	Hyporeflexia	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0031826	HP:0003487	Babinski sign	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0031826	HP:0001265	Hyporeflexia	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0031826	HP:0001284	Areflexia	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0031826	HP:0001265	Hyporeflexia	2	CNTNAP2 CL E G H	26047	13830	OMIM:610042	Pitt-Hopkins-Like syndrome 1	.		518
HP:0031826	HP:0001265	Hyporeflexia	2	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0031826	HP:0001265	Hyporeflexia	2	COASY CL E G H	80347	29932	OMIM:615643	Neurodegeneration with brain iron accumulation 6	.		16
HP:0031826	HP:0001348	Brisk reflexes	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0031826	HP:0001265	Hyporeflexia	2	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0031826	HP:0001284	Areflexia	2	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0031826	HP:0001265	Hyporeflexia	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0031826	HP:0001284	Areflexia	2	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0031826	HP:0001284	Areflexia	2	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0031826	HP:0001265	Hyporeflexia	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0031826	HP:0001284	Areflexia	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0031826	HP:0001284	Areflexia	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0031826	HP:0003487	Babinski sign	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0031826	HP:0001265	Hyporeflexia	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		193
HP:0031826	HP:0001284	Areflexia	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		193
HP:0031826	HP:0001265	Hyporeflexia	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0031826	HP:0001284	Areflexia	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		90
HP:0031826	HP:0003487	Babinski sign	2	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.		54
HP:0031826	HP:0001348	Brisk reflexes	2	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0031826	HP:0001348	Brisk reflexes	2	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040282 - Frequent		136
HP:0031826	HP:0001348	Brisk reflexes	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0031826	HP:0003487	Babinski sign	2	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0031826	HP:0007054	Proximal hyperreflexia	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0031826	HP:0001348	Brisk reflexes	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0031826	HP:0001265	Hyporeflexia	2	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.		4
HP:0031826	HP:0001284	Areflexia	2	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.		4
HP:0031826	HP:0001265	Hyporeflexia	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0031826	HP:0003487	Babinski sign	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent		1
HP:0031826	HP:0003487	Babinski sign	2	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.		1
HP:0031826	HP:0001284	Areflexia	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0031826	HP:0001265	Hyporeflexia	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001284	Areflexia	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001265	Hyporeflexia	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent		46
HP:0031826	HP:0001265	Hyporeflexia	2	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0031826	HP:0003487	Babinski sign	2	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.		17
HP:0031826	HP:0003487	Babinski sign	2	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.		20
HP:0031826	HP:0003487	Babinski sign	2	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent		9
HP:0031826	HP:0001265	Hyporeflexia	2	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0031826	HP:0002169	Clonus	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0031826	HP:0003487	Babinski sign	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0031826	HP:0003487	Babinski sign	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040281 - Very frequent		18
HP:0031826	HP:0003487	Babinski sign	2	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040281 - Very frequent		18
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	.		18
HP:0031826	HP:0003487	Babinski sign	2	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	.		18
HP:0031826	HP:0007054	Proximal hyperreflexia	2	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0031826	HP:0002169	Clonus	2	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0031826	HP:0003487	Babinski sign	2	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040281 - Very frequent		57
HP:0031826	HP:0003487	Babinski sign	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0031826	HP:0001265	Hyporeflexia	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		108
HP:0031826	HP:0001284	Areflexia	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		108
HP:0031826	HP:0001265	Hyporeflexia	2	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0031826	HP:0001348	Brisk reflexes	2	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0031826	HP:0003487	Babinski sign	2	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0031826	HP:0001265	Hyporeflexia	2	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:0031826	HP:0003487	Babinski sign	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent		60
HP:0031826	HP:0001265	Hyporeflexia	2	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.		60
HP:0031826	HP:0003487	Babinski sign	2	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.		60
HP:0031826	HP:0001265	Hyporeflexia	2	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital			80
HP:0031826	HP:0001265	Hyporeflexia	2	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.		2
HP:0031826	HP:0001284	Areflexia	2	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.		2
HP:0031826	HP:0003487	Babinski sign	2	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency	.		43
HP:0031826	HP:0003487	Babinski sign	2	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040281 - Very frequent		35
HP:0031826	HP:0003487	Babinski sign	2	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.		35
HP:0031826	HP:0003487	Babinski sign	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.		29
HP:0031826	HP:0001265	Hyporeflexia	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		33
HP:0031826	HP:0003487	Babinski sign	2	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18	.
HP:0031826	HP:0001284	Areflexia	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0031826	HP:0001265	Hyporeflexia	2	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0031826	HP:0001265	Hyporeflexia	2	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0031826	HP:0001265	Hyporeflexia	2	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		47
HP:0031826	HP:0001265	Hyporeflexia	2	DHH CL E G H	50846	2865	OMIM:607080	46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY			21
HP:0031826	HP:0001265	Hyporeflexia	2	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q			12
HP:0031826	HP:0001284	Areflexia	2	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0031826	HP:0001265	Hyporeflexia	2	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		65
HP:0031826	HP:0001284	Areflexia	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0031826	HP:0003487	Babinski sign	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0031826	HP:0001348	Brisk reflexes	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency			82
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent		82
HP:0031826	HP:0003487	Babinski sign	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent		82
HP:0031826	HP:0001265	Hyporeflexia	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0031826	HP:0001265	Hyporeflexia	2	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.		1496
HP:0031826	HP:0001284	Areflexia	2	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5	.		30
HP:0031826	HP:0001284	Areflexia	2	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	.		3
HP:0031826	HP:0003487	Babinski sign	2	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	HP:0040283 - Occasional		3
HP:0031826	HP:0001284	Areflexia	2	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome			3
HP:0031826	HP:0003487	Babinski sign	2	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040283 - Occasional		3
HP:0031826	HP:0001265	Hyporeflexia	2	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0031826	HP:0030904	Glabellar reflex	2	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset			6
HP:0031826	HP:0001265	Hyporeflexia	2	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		72
HP:0031826	HP:0001284	Areflexia	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		94
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040283 - Occasional		94
HP:0031826	HP:0001284	Areflexia	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0031826	HP:0001284	Areflexia	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0031826	HP:0001265	Hyporeflexia	2	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.		167
HP:0031826	HP:0001284	Areflexia	2	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B	.		167
HP:0031826	HP:0001284	Areflexia	2	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.		167
HP:0031826	HP:0001284	Areflexia	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0031826	HP:0003487	Babinski sign	2	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional		145
HP:0031826	HP:0001265	Hyporeflexia	2	DNMT1 CL E G H	1786	2976	OMIM:614116	Neuropathy, hereditary sensory, type IE	.		145
HP:0031826	HP:0001265	Hyporeflexia	2	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia	.		3
HP:0031826	HP:0001284	Areflexia	2	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		38
HP:0031826	HP:0001265	Hyporeflexia	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0031826	HP:0003487	Babinski sign	2	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent		9
HP:0031826	HP:0001284	Areflexia	2	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional		144
HP:0031826	HP:0001284	Areflexia	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI	.		108
HP:0031826	HP:0003487	Babinski sign	2	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.		13
HP:0031826	HP:0002169	Clonus	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0031826	HP:0003487	Babinski sign	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0031826	HP:0001265	Hyporeflexia	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		121
HP:0031826	HP:0001265	Hyporeflexia	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		11
HP:0031826	HP:0001265	Hyporeflexia	2	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O	.		427
HP:0031826	HP:0001265	Hyporeflexia	2	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13	.		427
HP:0031826	HP:0001265	Hyporeflexia	2	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0031826	HP:0001284	Areflexia	2	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0031826	HP:0001265	Hyporeflexia	2	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1			600
HP:0031826	HP:0001284	Areflexia	2	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1			600
HP:0031826	HP:0001284	Areflexia	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0031826	HP:0001265	Hyporeflexia	2	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		60
HP:0031826	HP:0003487	Babinski sign	2	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040283 - Occasional		4
HP:0031826	HP:0007034	Generalized hyperreflexia	2	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040283 - Occasional		4
HP:0031826	HP:0001265	Hyporeflexia	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0031826	HP:0001284	Areflexia	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0031826	HP:0001284	Areflexia	2	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.		58
HP:0031826	HP:0003487	Babinski sign	2	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0031826	HP:0003487	Babinski sign	2	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.		8
HP:0031826	HP:0001348	Brisk reflexes	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0031826	HP:0001348	Brisk reflexes	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0031826	HP:0003487	Babinski sign	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0031826	HP:0001265	Hyporeflexia	2	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.		62
HP:0031826	HP:0001265	Hyporeflexia	2	ELOVL4 CL E G H	6785	14415	ORPHA:1955	Spinocerebellar ataxia type 34	HP:0040281 - Very frequent		62
HP:0031826	HP:0001265	Hyporeflexia	2	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040281 - Very frequent		133
HP:0031826	HP:0001265	Hyporeflexia	2	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.		133
HP:0031826	HP:0001265	Hyporeflexia	2	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0031826	HP:0001265	Hyporeflexia	2	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040282 - Frequent		5
HP:0031826	HP:0002169	Clonus	2	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0031826	HP:0001284	Areflexia	2	ENTPD1 CL E G H	953	3363	ORPHA:401810	Autosomal recessive spastic paraplegia type 64	HP:0040283 - Occasional		3
HP:0031826	HP:0001284	Areflexia	2	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.		12
HP:0031826	HP:0001348	Brisk reflexes	2	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4			20
HP:0031826	HP:0001265	Hyporeflexia	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0031826	HP:0007034	Generalized hyperreflexia	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0031826	HP:0001265	Hyporeflexia	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0031826	HP:0001265	Hyporeflexia	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0031826	HP:0007034	Generalized hyperreflexia	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0031826	HP:0001284	Areflexia	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		199
HP:0031826	HP:0001265	Hyporeflexia	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0031826	HP:0001284	Areflexia	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0031826	HP:0003487	Babinski sign	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0031826	HP:0001284	Areflexia	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent		55
HP:0031826	HP:0001284	Areflexia	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0031826	HP:0001284	Areflexia	2	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional		2
HP:0031826	HP:0002169	Clonus	2	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional		2
HP:0031826	HP:0001284	Areflexia	2	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0031826	HP:0002169	Clonus	2	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	.		2
HP:0031826	HP:0003487	Babinski sign	2	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0031826	HP:0002169	Clonus	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0031826	HP:0003487	Babinski sign	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040282 - Frequent		18
HP:0031826	HP:0007054	Proximal hyperreflexia	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0031826	HP:0002169	Clonus	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0031826	HP:0007054	Proximal hyperreflexia	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome			18
HP:0031826	HP:0003487	Babinski sign	2	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.		18
HP:0031826	HP:0003487	Babinski sign	2	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0031826	HP:0001265	Hyporeflexia	2	EXOSC1 CL E G H	51013	17286	OMIM:619304	PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0031826	HP:0001265	Hyporeflexia	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0031826	HP:0001265	Hyporeflexia	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0031826	HP:0001265	Hyporeflexia	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0031826	HP:0001265	Hyporeflexia	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0031826	HP:0001348	Brisk reflexes	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0031826	HP:0001265	Hyporeflexia	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040282 - Frequent		3
HP:0031826	HP:0002169	Clonus	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0031826	HP:0003487	Babinski sign	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040281 - Very frequent		76
HP:0031826	HP:0002169	Clonus	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive			76
HP:0031826	HP:0003487	Babinski sign	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.		76
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040281 - Very frequent		7
HP:0031826	HP:0003487	Babinski sign	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040282 - Frequent		7
HP:0031826	HP:0007054	Proximal hyperreflexia	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A			7
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent		36
HP:0031826	HP:0003487	Babinski sign	2	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent		36
HP:0031826	HP:0003487	Babinski sign	2	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive	.		36
HP:0031826	HP:0001265	Hyporeflexia	2	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0031826	HP:0001348	Brisk reflexes	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0031826	HP:0001284	Areflexia	2	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0031826	HP:0001265	Hyporeflexia	2	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0031826	HP:0001265	Hyporeflexia	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent		1361
HP:0031826	HP:0001265	Hyporeflexia	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0031826	HP:0001284	Areflexia	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0031826	HP:0001265	Hyporeflexia	2	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0031826	HP:0003487	Babinski sign	2	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.		36
HP:0031826	HP:0003487	Babinski sign	2	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		36
HP:0031826	HP:0001265	Hyporeflexia	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0031826	HP:0001265	Hyporeflexia	2	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H	.		158
HP:0031826	HP:0001284	Areflexia	2	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0031826	HP:0001265	Hyporeflexia	2	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0031826	HP:0002169	Clonus	2	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0031826	HP:0003487	Babinski sign	2	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0031826	HP:0001265	Hyporeflexia	2	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0031826	HP:0001265	Hyporeflexia	2	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.		68
HP:0031826	HP:0001265	Hyporeflexia	2	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.		68
HP:0031826	HP:0001284	Areflexia	2	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.		68
HP:0031826	HP:0001265	Hyporeflexia	2	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.		68
HP:0031826	HP:0001265	Hyporeflexia	2	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0031826	HP:0001284	Areflexia	2	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J	.		111
HP:0031826	HP:0002169	Clonus	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		157
HP:0031826	HP:0001265	Hyporeflexia	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.		157
HP:0031826	HP:0001265	Hyporeflexia	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		157
HP:0031826	HP:0001284	Areflexia	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		157
HP:0031826	HP:0001284	Areflexia	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0031826	HP:0001265	Hyporeflexia	2	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.		184
HP:0031826	HP:0001265	Hyporeflexia	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		184
HP:0031826	HP:0001284	Areflexia	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		184
HP:0031826	HP:0001265	Hyporeflexia	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0031826	HP:0001265	Hyporeflexia	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001265	Hyporeflexia	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0031826	HP:0001265	Hyporeflexia	2	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.		197
HP:0031826	HP:0001265	Hyporeflexia	2	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0031826	HP:0007054	Proximal hyperreflexia	2	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0031826	HP:0001284	Areflexia	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0031826	HP:0001284	Areflexia	2	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040283 - Occasional		111
HP:0031826	HP:0001265	Hyporeflexia	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome			30
HP:0031826	HP:0001265	Hyporeflexia	2	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent		30
HP:0031826	HP:0003487	Babinski sign	2	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.		33
HP:0031826	HP:0001348	Brisk reflexes	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional		33
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional		33
HP:0031826	HP:0003487	Babinski sign	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare		33
HP:0031826	HP:0007054	Proximal hyperreflexia	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0031826	HP:0001348	Brisk reflexes	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0031826	HP:0001265	Hyporeflexia	2	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	.		105
HP:0031826	HP:0001265	Hyporeflexia	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		105
HP:0031826	HP:0003487	Babinski sign	2	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		105
HP:0031826	HP:0001348	Brisk reflexes	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0031826	HP:0002169	Clonus	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0031826	HP:0001284	Areflexia	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0031826	HP:0003487	Babinski sign	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040281 - Very frequent		18
HP:0031826	HP:0001284	Areflexia	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0031826	HP:0003487	Babinski sign	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.		18
HP:0031826	HP:0001284	Areflexia	2	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0031826	HP:0001284	Areflexia	2	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0031826	HP:0001265	Hyporeflexia	2	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0031826	HP:0001284	Areflexia	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0031826	HP:0001265	Hyporeflexia	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0031826	HP:0001284	Areflexia	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0031826	HP:0001265	Hyporeflexia	2	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0031826	HP:0001265	Hyporeflexia	2	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		4
HP:0031826	HP:0001265	Hyporeflexia	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent
HP:0031826	HP:0001265	Hyporeflexia	2	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0031826	HP:0001265	Hyporeflexia	2	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		44
HP:0031826	HP:0001265	Hyporeflexia	2	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		139
HP:0031826	HP:0003487	Babinski sign	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent		160
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent		160
HP:0031826	HP:0001265	Hyporeflexia	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0031826	HP:0002169	Clonus	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0031826	HP:0001284	Areflexia	2	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040281 - Very frequent		121
HP:0031826	HP:0003487	Babinski sign	2	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040283 - Occasional		121
HP:0031826	HP:0001265	Hyporeflexia	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0031826	HP:0001284	Areflexia	2	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0031826	HP:0001265	Hyporeflexia	2	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0031826	HP:0001284	Areflexia	2	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0031826	HP:0001265	Hyporeflexia	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001348	Brisk reflexes	2	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040282 - Frequent		30
HP:0031826	HP:0003487	Babinski sign	2	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040281 - Very frequent		30
HP:0031826	HP:0003487	Babinski sign	2	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040281 - Very frequent		30
HP:0031826	HP:0002169	Clonus	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0031826	HP:0003487	Babinski sign	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0031826	HP:0001284	Areflexia	2	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0031826	HP:0001265	Hyporeflexia	2	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0031826	HP:0001284	Areflexia	2	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0031826	HP:0001348	Brisk reflexes	2	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		86
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		86
HP:0031826	HP:0003487	Babinski sign	2	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		86
HP:0031826	HP:0033683	Jaw hyperreflexia	2	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0031826	HP:0003487	Babinski sign	2	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia			86
HP:0031826	HP:0001265	Hyporeflexia	2	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0031826	HP:0001284	Areflexia	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0031826	HP:0001265	Hyporeflexia	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0031826	HP:0001284	Areflexia	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0031826	HP:0001284	Areflexia	2	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		108
HP:0031826	HP:0001284	Areflexia	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.		108
HP:0031826	HP:0001265	Hyporeflexia	2	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.		108
HP:0031826	HP:0001284	Areflexia	2	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.		108
HP:0031826	HP:0001265	Hyporeflexia	2	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.		108
HP:0031826	HP:0001284	Areflexia	2	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.		108
HP:0031826	HP:0001265	Hyporeflexia	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0031826	HP:0001284	Areflexia	2	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0031826	HP:0001348	Brisk reflexes	2	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0031826	HP:0003487	Babinski sign	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0031826	HP:0003487	Babinski sign	2	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0031826	HP:0002169	Clonus	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0031826	HP:0003487	Babinski sign	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0031826	HP:0001284	Areflexia	2	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		128
HP:0031826	HP:0001284	Areflexia	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.		68
HP:0031826	HP:0001265	Hyporeflexia	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.		107
HP:0031826	HP:0001284	Areflexia	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	HP:0040283 - Occasional		107
HP:0031826	HP:0003487	Babinski sign	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	HP:0040283 - Occasional		107
HP:0031826	HP:0001284	Areflexia	2	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040281 - Very frequent		107
HP:0031826	HP:0001284	Areflexia	2	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040283 - Occasional		107
HP:0031826	HP:0003487	Babinski sign	2	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040283 - Occasional		107
HP:0031826	HP:0003487	Babinski sign	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0031826	HP:0003487	Babinski sign	2	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.		37
HP:0031826	HP:0001265	Hyporeflexia	2	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0031826	HP:0001284	Areflexia	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0031826	HP:0001348	Brisk reflexes	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0031826	HP:0030904	Glabellar reflex	2	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2	.		46
HP:0031826	HP:0003487	Babinski sign	2	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent		17
HP:0031826	HP:0003487	Babinski sign	2	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0031826	HP:0001348	Brisk reflexes	2	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0031826	HP:0030904	Glabellar reflex	2	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040282 - Frequent		69
HP:0031826	HP:0002169	Clonus	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		34
HP:0031826	HP:0001284	Areflexia	2	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		34
HP:0031826	HP:0001265	Hyporeflexia	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0031826	HP:0001265	Hyporeflexia	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0031826	HP:0001265	Hyporeflexia	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0031826	HP:0001265	Hyporeflexia	2	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	.		12
HP:0031826	HP:0001284	Areflexia	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0031826	HP:0001265	Hyporeflexia	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0031826	HP:0001348	Brisk reflexes	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0031826	HP:0001284	Areflexia	2	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.		88
HP:0031826	HP:0003487	Babinski sign	2	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent		4
HP:0031826	HP:0001265	Hyporeflexia	2	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0031826	HP:0001265	Hyporeflexia	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0031826	HP:0003487	Babinski sign	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0031826	HP:0003487	Babinski sign	2	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18			18
HP:0031826	HP:0001265	Hyporeflexia	2	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional		434
HP:0031826	HP:0001265	Hyporeflexia	2	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0031826	HP:0001348	Brisk reflexes	2	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44			8
HP:0031826	HP:0001265	Hyporeflexia	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0031826	HP:0007034	Generalized hyperreflexia	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0031826	HP:0001265	Hyporeflexia	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0031826	HP:0007034	Generalized hyperreflexia	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0031826	HP:0001348	Brisk reflexes	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0031826	HP:0001348	Brisk reflexes	2	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0031826	HP:0001284	Areflexia	2	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0031826	HP:0001284	Areflexia	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0031826	HP:0001265	Hyporeflexia	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0031826	HP:0001284	Areflexia	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040281 - Very frequent		99
HP:0031826	HP:0001284	Areflexia	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0031826	HP:0003487	Babinski sign	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		99
HP:0031826	HP:0001265	Hyporeflexia	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0031826	HP:0001284	Areflexia	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0031826	HP:0001284	Areflexia	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040281 - Very frequent		60
HP:0031826	HP:0003487	Babinski sign	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		60
HP:0031826	HP:0001284	Areflexia	2	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0031826	HP:0001348	Brisk reflexes	2	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040282 - Frequent
HP:0031826	HP:0001284	Areflexia	2	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0031826	HP:0007054	Proximal hyperreflexia	2	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0031826	HP:0001265	Hyporeflexia	2	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		54
HP:0031826	HP:0001265	Hyporeflexia	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.		33
HP:0031826	HP:0001265	Hyporeflexia	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0031826	HP:0007054	Proximal hyperreflexia	2	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0031826	HP:0002169	Clonus	2	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.		3
HP:0031826	HP:0001284	Areflexia	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional		12
HP:0031826	HP:0001284	Areflexia	2	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent		11
HP:0031826	HP:0001265	Hyporeflexia	2	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.		11
HP:0031826	HP:0001265	Hyporeflexia	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0031826	HP:0001265	Hyporeflexia	2	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.		5
HP:0031826	HP:0001284	Areflexia	2	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:0031826	HP:0001284	Areflexia	2	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:0031826	HP:0002395	Lower limb hyperreflexia	2	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0031826	HP:0003487	Babinski sign	2	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0031826	HP:0001265	Hyporeflexia	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	HP:0040283 - Occasional		98
HP:0031826	HP:0001284	Areflexia	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	HP:0040283 - Occasional		98
HP:0031826	HP:0001265	Hyporeflexia	2	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.		47
HP:0031826	HP:0001284	Areflexia	2	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.		47
HP:0031826	HP:0001265	Hyporeflexia	2	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB			47
HP:0031826	HP:0001284	Areflexia	2	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB			47
HP:0031826	HP:0001284	Areflexia	2	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC			13
HP:0031826	HP:0001265	Hyporeflexia	2	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.		38
HP:0031826	HP:0001284	Areflexia	2	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.		38
HP:0031826	HP:0001265	Hyporeflexia	2	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA			38
HP:0031826	HP:0001284	Areflexia	2	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA			38
HP:0031826	HP:0003487	Babinski sign	2	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent		46
HP:0031826	HP:0007054	Proximal hyperreflexia	2	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0031826	HP:0003487	Babinski sign	2	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.		46
HP:0031826	HP:0003487	Babinski sign	2	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.		46
HP:0031826	HP:0001265	Hyporeflexia	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0031826	HP:0001265	Hyporeflexia	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0031826	HP:0003487	Babinski sign	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.		34
HP:0031826	HP:0002169	Clonus	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0031826	HP:0002169	Clonus	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0031826	HP:0003487	Babinski sign	2	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional		12
HP:0031826	HP:0002169	Clonus	2	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome			12
HP:0031826	HP:0003487	Babinski sign	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0031826	HP:0001265	Hyporeflexia	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0031826	HP:0001265	Hyporeflexia	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0031826	HP:0003487	Babinski sign	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040283 - Occasional		16
HP:0031826	HP:0007054	Proximal hyperreflexia	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0031826	HP:0001284	Areflexia	2	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.		16
HP:0031826	HP:0003487	Babinski sign	2	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.		16
HP:0031826	HP:0001348	Brisk reflexes	2	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0031826	HP:0001265	Hyporeflexia	2	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18			1
HP:0031826	HP:0001284	Areflexia	2	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040281 - Very frequent		1
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040282 - Frequent		1
HP:0031826	HP:0001265	Hyporeflexia	2	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	.		209
HP:0031826	HP:0001284	Areflexia	2	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	.		209
HP:0031826	HP:0001265	Hyporeflexia	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0031826	HP:0001348	Brisk reflexes	2	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		1
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		1
HP:0031826	HP:0003487	Babinski sign	2	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		1
HP:0031826	HP:0001265	Hyporeflexia	2	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.		135
HP:0031826	HP:0001284	Areflexia	2	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.		135
HP:0031826	HP:0001265	Hyporeflexia	2	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional		7
HP:0031826	HP:0001284	Areflexia	2	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional		7
HP:0031826	HP:0001265	Hyporeflexia	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		119
HP:0031826	HP:0003487	Babinski sign	2	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0031826	HP:0003487	Babinski sign	2	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0031826	HP:0001284	Areflexia	2	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0031826	HP:0001284	Areflexia	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0031826	HP:0001265	Hyporeflexia	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		130
HP:0031826	HP:0001284	Areflexia	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0031826	HP:0001284	Areflexia	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0031826	HP:0001348	Brisk reflexes	2	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0031826	HP:0003487	Babinski sign	2	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0031826	HP:0001284	Areflexia	2	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		1
HP:0031826	HP:0001265	Hyporeflexia	2	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0031826	HP:0001284	Areflexia	2	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0031826	HP:0001265	Hyporeflexia	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		80
HP:0031826	HP:0001284	Areflexia	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0031826	HP:0003487	Babinski sign	2	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.		145
HP:0031826	HP:0001265	Hyporeflexia	2	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0031826	HP:0003487	Babinski sign	2	KCNA4 CL E G H	3739	6222	OMIM:618284	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	.
HP:0031826	HP:0001265	Hyporeflexia	2	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		65
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional		17
HP:0031826	HP:0001265	Hyporeflexia	2	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.		35
HP:0031826	HP:0001265	Hyporeflexia	2	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040282 - Frequent		35
HP:0031826	HP:0001265	Hyporeflexia	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent		10
HP:0031826	HP:0001265	Hyporeflexia	2	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2			10
HP:0031826	HP:0001284	Areflexia	2	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2			10
HP:0031826	HP:0001284	Areflexia	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional		4
HP:0031826	HP:0002169	Clonus	2	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent		528
HP:0031826	HP:0002169	Clonus	2	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent		302
HP:0031826	HP:0002169	Clonus	2	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.		321
HP:0031826	HP:0002169	Clonus	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.		81
HP:0031826	HP:0003487	Babinski sign	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.		81
HP:0031826	HP:0001265	Hyporeflexia	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040281 - Very frequent		276
HP:0031826	HP:0003487	Babinski sign	2	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040281 - Very frequent		276
HP:0031826	HP:0003487	Babinski sign	2	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.		276
HP:0031826	HP:0001265	Hyporeflexia	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		276
HP:0031826	HP:0001284	Areflexia	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0031826	HP:0001265	Hyporeflexia	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC	.		276
HP:0031826	HP:0001284	Areflexia	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC	.		276
HP:0031826	HP:0002169	Clonus	2	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive			276
HP:0031826	HP:0003487	Babinski sign	2	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.		276
HP:0031826	HP:0001265	Hyporeflexia	2	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.		202
HP:0031826	HP:0001284	Areflexia	2	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.		202
HP:0031826	HP:0002169	Clonus	2	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent		38
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040281 - Very frequent		38
HP:0031826	HP:0003487	Babinski sign	2	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent		38
HP:0031826	HP:0003487	Babinski sign	2	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.		38
HP:0031826	HP:0002169	Clonus	2	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040281 - Very frequent		93
HP:0031826	HP:0003487	Babinski sign	2	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent		93
HP:0031826	HP:0007054	Proximal hyperreflexia	2	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0031826	HP:0002169	Clonus	2	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant			93
HP:0031826	HP:0003487	Babinski sign	2	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.		93
HP:0031826	HP:0001284	Areflexia	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0031826	HP:0002169	Clonus	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0031826	HP:0003487	Babinski sign	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0031826	HP:0007054	Proximal hyperreflexia	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.		1
HP:0031826	HP:0001265	Hyporeflexia	2	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome			1
HP:0031826	HP:0007054	Proximal hyperreflexia	2	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent		1
HP:0031826	HP:0001265	Hyporeflexia	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		13
HP:0031826	HP:0001284	Areflexia	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0031826	HP:0001265	Hyporeflexia	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0031826	HP:0001284	Areflexia	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		13
HP:0031826	HP:0001265	Hyporeflexia	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		13
HP:0031826	HP:0001284	Areflexia	2	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0031826	HP:0002169	Clonus	2	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0031826	HP:0003487	Babinski sign	2	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040282 - Frequent
HP:0031826	HP:0007054	Proximal hyperreflexia	2	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent		3
HP:0031826	HP:0003487	Babinski sign	2	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040283 - Occasional		3
HP:0031826	HP:0001265	Hyporeflexia	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0031826	HP:0001284	Areflexia	2	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	.		411
HP:0031826	HP:0001284	Areflexia	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0031826	HP:0001265	Hyporeflexia	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0031826	HP:0001284	Areflexia	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.		92
HP:0031826	HP:0001265	Hyporeflexia	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0031826	HP:0001284	Areflexia	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		92
HP:0031826	HP:0001284	Areflexia	2	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	.		136
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0031826	HP:0003487	Babinski sign	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0031826	HP:0001265	Hyporeflexia	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		136
HP:0031826	HP:0001284	Areflexia	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		136
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0031826	HP:0001265	Hyporeflexia	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0031826	HP:0001265	Hyporeflexia	2	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4			286
HP:0031826	HP:0001348	Brisk reflexes	2	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0031826	HP:0003487	Babinski sign	2	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0031826	HP:0001265	Hyporeflexia	2	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0031826	HP:0001284	Areflexia	2	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0031826	HP:0001265	Hyporeflexia	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0031826	HP:0001265	Hyporeflexia	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0031826	HP:0001284	Areflexia	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0031826	HP:0001284	Areflexia	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0031826	HP:0001265	Hyporeflexia	2	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.		74
HP:0031826	HP:0001265	Hyporeflexia	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0031826	HP:0001284	Areflexia	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0031826	HP:0001265	Hyporeflexia	2	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0031826	HP:0001284	Areflexia	2	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0031826	HP:0002169	Clonus	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional		44
HP:0031826	HP:0003487	Babinski sign	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent		44
HP:0031826	HP:0003487	Babinski sign	2	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.		44
HP:0031826	HP:0001265	Hyporeflexia	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		11
HP:0031826	HP:0001265	Hyporeflexia	2	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.		95
HP:0031826	HP:0001284	Areflexia	2	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.		95
HP:0031826	HP:0001284	Areflexia	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0031826	HP:0001265	Hyporeflexia	2	LRP4 CL E G H	4038	6696	OMIM:616304	Myasthenic syndrome, congenital, 17	.		124
HP:0031826	HP:0001265	Hyporeflexia	2	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0031826	HP:0001265	Hyporeflexia	2	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.		102
HP:0031826	HP:0001284	Areflexia	2	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.		102
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0031826	HP:0001348	Brisk reflexes	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0031826	HP:0003487	Babinski sign	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0031826	HP:0001265	Hyporeflexia	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.		239
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0031826	HP:0001265	Hyporeflexia	2	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040282 - Frequent		4
HP:0031826	HP:0003487	Babinski sign	2	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75	HP:0040281 - Very frequent		4
HP:0031826	HP:0001265	Hyporeflexia	2	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0031826	HP:0001284	Areflexia	2	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0031826	HP:0003487	Babinski sign	2	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0031826	HP:0003487	Babinski sign	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0031826	HP:0001284	Areflexia	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0031826	HP:0001284	Areflexia	2	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U	.
HP:0031826	HP:0001265	Hyporeflexia	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.		3
HP:0031826	HP:0001284	Areflexia	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.		3
HP:0031826	HP:0003487	Babinski sign	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0031826	HP:0001265	Hyporeflexia	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	HP:0040283 - Occasional		4
HP:0031826	HP:0003487	Babinski sign	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	HP:0040283 - Occasional		4
HP:0031826	HP:0003487	Babinski sign	2	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.		950
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent		950
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040281 - Very frequent		950
HP:0031826	HP:0003487	Babinski sign	2	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0031826	HP:0002169	Clonus	2	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.		23
HP:0031826	HP:0001265	Hyporeflexia	2	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.		43
HP:0031826	HP:0001284	Areflexia	2	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.		43
HP:0031826	HP:0001265	Hyporeflexia	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0031826	HP:0001284	Areflexia	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0031826	HP:0001284	Areflexia	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0031826	HP:0003487	Babinski sign	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0031826	HP:0001265	Hyporeflexia	2	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.		203
HP:0031826	HP:0001265	Hyporeflexia	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0031826	HP:0001284	Areflexia	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0031826	HP:0003487	Babinski sign	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0031826	HP:0001265	Hyporeflexia	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0031826	HP:0001284	Areflexia	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0031826	HP:0001265	Hyporeflexia	2	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0031826	HP:0001265	Hyporeflexia	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0031826	HP:0002169	Clonus	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28			127
HP:0031826	HP:0001265	Hyporeflexia	2	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	.		18
HP:0031826	HP:0001284	Areflexia	2	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	.		18
HP:0031826	HP:0001265	Hyporeflexia	2	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0031826	HP:0030902	Palmomental reflex	2	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43			18
HP:0031826	HP:0001265	Hyporeflexia	2	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent		18
HP:0031826	HP:0001284	Areflexia	2	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent		18
HP:0031826	HP:0003487	Babinski sign	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent		8
HP:0031826	HP:0001265	Hyporeflexia	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0031826	HP:0001284	Areflexia	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.		8
HP:0031826	HP:0003487	Babinski sign	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0031826	HP:0001265	Hyporeflexia	2	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0031826	HP:0001284	Areflexia	2	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0031826	HP:0003487	Babinski sign	2	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0031826	HP:0001265	Hyporeflexia	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0031826	HP:0007034	Generalized hyperreflexia	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0031826	HP:0001265	Hyporeflexia	2	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.		56
HP:0031826	HP:0001284	Areflexia	2	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.		56
HP:0031826	HP:0001265	Hyporeflexia	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0031826	HP:0001284	Areflexia	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0031826	HP:0001284	Areflexia	2	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040282 - Frequent		134
HP:0031826	HP:0001265	Hyporeflexia	2	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I	.		134
HP:0031826	HP:0001284	Areflexia	2	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I	.		134
HP:0031826	HP:0001265	Hyporeflexia	2	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.		134
HP:0031826	HP:0001284	Areflexia	2	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.		134
HP:0031826	HP:0001265	Hyporeflexia	2	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	.		134
HP:0031826	HP:0001284	Areflexia	2	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	.		134
HP:0031826	HP:0001265	Hyporeflexia	2	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J	.		134
HP:0031826	HP:0001284	Areflexia	2	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0031826	HP:0001265	Hyporeflexia	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0031826	HP:0001284	Areflexia	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0031826	HP:0001265	Hyporeflexia	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0031826	HP:0001284	Areflexia	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0031826	HP:0001284	Areflexia	2	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		134
HP:0031826	HP:0003487	Babinski sign	2	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional		134
HP:0031826	HP:0001265	Hyporeflexia	2	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0031826	HP:0001284	Areflexia	2	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0031826	HP:0001284	Areflexia	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional		532
HP:0031826	HP:0001265	Hyporeflexia	2	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.		532
HP:0031826	HP:0001348	Brisk reflexes	2	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0031826	HP:0001348	Brisk reflexes	2	MSTN CL E G H	2660	4223	OMIM:614160	MUSCLE HYPERTROPHY; MSLHP			34
HP:0031826	HP:0001265	Hyporeflexia	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0031826	HP:0001265	Hyporeflexia	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0031826	HP:0001284	Areflexia	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0031826	HP:0001284	Areflexia	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0031826	HP:0001284	Areflexia	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0031826	HP:0001265	Hyporeflexia	2	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040283 - Occasional		19
HP:0031826	HP:0003487	Babinski sign	2	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040281 - Very frequent		19
HP:0031826	HP:0001265	Hyporeflexia	2	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	HP:0003584 - Late onset	19
HP:0031826	HP:0003487	Babinski sign	2	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.		19
HP:0031826	HP:0003487	Babinski sign	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0031826	HP:0001284	Areflexia	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0031826	HP:0001284	Areflexia	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0031826	HP:0002169	Clonus	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0031826	HP:0003487	Babinski sign	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0031826	HP:0001284	Areflexia	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent		81
HP:0031826	HP:0003487	Babinski sign	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0031826	HP:0001284	Areflexia	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0031826	HP:0001265	Hyporeflexia	2	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.		227
HP:0031826	HP:0001284	Areflexia	2	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.		227
HP:0031826	HP:0001265	Hyporeflexia	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent		227
HP:0031826	HP:0001284	Areflexia	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040283 - Occasional		227
HP:0031826	HP:0001265	Hyporeflexia	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0031826	HP:0001265	Hyporeflexia	2	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0031826	HP:0001284	Areflexia	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0031826	HP:0001284	Areflexia	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0031826	HP:0002169	Clonus	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0031826	HP:0001284	Areflexia	2	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0031826	HP:0001265	Hyporeflexia	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0031826	HP:0001284	Areflexia	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0031826	HP:0001265	Hyporeflexia	2	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040281 - Very frequent		75
HP:0031826	HP:0001284	Areflexia	2	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body			75
HP:0031826	HP:0001265	Hyporeflexia	2	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0031826	HP:0001284	Areflexia	2	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.		75
HP:0031826	HP:0001265	Hyporeflexia	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		217
HP:0031826	HP:0001284	Areflexia	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0031826	HP:0001265	Hyporeflexia	2	NAGLU CL E G H	4669	7632	OMIM:616491	Charcot-Marie-Tooth disease, axonal, type 2V	.		72
HP:0031826	HP:0001265	Hyporeflexia	2	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0031826	HP:0001265	Hyporeflexia	2	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0031826	HP:0001265	Hyporeflexia	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0031826	HP:0001284	Areflexia	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0031826	HP:0001265	Hyporeflexia	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001265	Hyporeflexia	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001265	Hyporeflexia	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001265	Hyporeflexia	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001265	Hyporeflexia	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001265	Hyporeflexia	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0003487	Babinski sign	2	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4			96
HP:0031826	HP:0002169	Clonus	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0031826	HP:0001265	Hyporeflexia	2	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.		82
HP:0031826	HP:0001284	Areflexia	2	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.		82
HP:0031826	HP:0001265	Hyporeflexia	2	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.		7
HP:0031826	HP:0001348	Brisk reflexes	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0031826	HP:0003487	Babinski sign	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0031826	HP:0001265	Hyporeflexia	2	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26	.		27
HP:0031826	HP:0003487	Babinski sign	2	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.		81
HP:0031826	HP:0001265	Hyporeflexia	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0031826	HP:0003487	Babinski sign	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0031826	HP:0001348	Brisk reflexes	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0031826	HP:0002169	Clonus	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0031826	HP:0001265	Hyporeflexia	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		745
HP:0031826	HP:0001284	Areflexia	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0031826	HP:0001265	Hyporeflexia	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0031826	HP:0001284	Areflexia	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		745
HP:0031826	HP:0001265	Hyporeflexia	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0031826	HP:0001284	Areflexia	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0031826	HP:0001265	Hyporeflexia	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		745
HP:0031826	HP:0001265	Hyporeflexia	2	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0031826	HP:0001265	Hyporeflexia	2	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC	.		24
HP:0031826	HP:0003487	Babinski sign	2	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC			24
HP:0031826	HP:0001265	Hyporeflexia	2	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent		118
HP:0031826	HP:0001284	Areflexia	2	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E			118
HP:0031826	HP:0001284	Areflexia	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent		118
HP:0031826	HP:0001265	Hyporeflexia	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.		118
HP:0031826	HP:0001284	Areflexia	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.		118
HP:0031826	HP:0001265	Hyporeflexia	2	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.		118
HP:0031826	HP:0001284	Areflexia	2	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.		118
HP:0031826	HP:0001265	Hyporeflexia	2	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.		118
HP:0031826	HP:0001284	Areflexia	2	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.		118
HP:0031826	HP:0003487	Babinski sign	2	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.		118
HP:0031826	HP:0001265	Hyporeflexia	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0031826	HP:0003487	Babinski sign	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0031826	HP:0001348	Brisk reflexes	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0031826	HP:0001265	Hyporeflexia	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0031826	HP:0030906	Suck reflex	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0031826	HP:0001265	Hyporeflexia	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0031826	HP:0030906	Suck reflex	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040281 - Very frequent		117
HP:0031826	HP:0003487	Babinski sign	2	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040281 - Very frequent		117
HP:0031826	HP:0002169	Clonus	2	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.		117
HP:0031826	HP:0003487	Babinski sign	2	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.		117
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0031826	HP:0007054	Proximal hyperreflexia	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0031826	HP:0003487	Babinski sign	2	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0031826	HP:0003487	Babinski sign	2	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040282 - Frequent		9
HP:0031826	HP:0001265	Hyporeflexia	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0031826	HP:0001284	Areflexia	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0031826	HP:0001265	Hyporeflexia	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0031826	HP:0001348	Brisk reflexes	2	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		27
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		27
HP:0031826	HP:0003487	Babinski sign	2	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		27
HP:0031826	HP:0033683	Jaw hyperreflexia	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0031826	HP:0003487	Babinski sign	2	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040281 - Very frequent		15
HP:0031826	HP:0003487	Babinski sign	2	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.		15
HP:0031826	HP:0001265	Hyporeflexia	2	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		8
HP:0031826	HP:0003487	Babinski sign	2	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.		89
HP:0031826	HP:0003487	Babinski sign	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent		7
HP:0031826	HP:0001265	Hyporeflexia	2	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		121
HP:0031826	HP:0001284	Areflexia	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0031826	HP:0001284	Areflexia	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0031826	HP:0002169	Clonus	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0031826	HP:0001284	Areflexia	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0031826	HP:0001284	Areflexia	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare		214
HP:0031826	HP:0003487	Babinski sign	2	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0031826	HP:0003487	Babinski sign	2	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.		163
HP:0031826	HP:0001284	Areflexia	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent		163
HP:0031826	HP:0001284	Areflexia	2	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2			19
HP:0031826	HP:0002169	Clonus	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0031826	HP:0001265	Hyporeflexia	2	OTOG CL E G H	340990	8516	OMIM:614945	Deafness, autosomal recessive 18B	.		165
HP:0031826	HP:0001348	Brisk reflexes	2	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0031826	HP:0003487	Babinski sign	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1			55
HP:0031826	HP:0001348	Brisk reflexes	2	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7			23
HP:0031826	HP:0001265	Hyporeflexia	2	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		26
HP:0031826	HP:0003487	Babinski sign	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0031826	HP:0001265	Hyporeflexia	2	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		14
HP:0031826	HP:0001284	Areflexia	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0031826	HP:0002169	Clonus	2	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.		118
HP:0031826	HP:0003487	Babinski sign	2	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.		75
HP:0031826	HP:0001265	Hyporeflexia	2	PDHB CL E G H	5162	8808	OMIM:614111	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD			37
HP:0031826	HP:0001265	Hyporeflexia	2	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	.		4
HP:0031826	HP:0001284	Areflexia	2	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0031826	HP:0001284	Areflexia	2	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.		40
HP:0031826	HP:0001284	Areflexia	2	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	.
HP:0031826	HP:0003487	Babinski sign	2	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.		52
HP:0031826	HP:0003487	Babinski sign	2	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040282 - Frequent		52
HP:0031826	HP:0002169	Clonus	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0031826	HP:0003487	Babinski sign	2	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0031826	HP:0001265	Hyporeflexia	2	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		169
HP:0031826	HP:0001265	Hyporeflexia	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0031826	HP:0001284	Areflexia	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0031826	HP:0001265	Hyporeflexia	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	HP:0040283 - Occasional		75
HP:0031826	HP:0001284	Areflexia	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0031826	HP:0001284	Areflexia	2	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B	.		4
HP:0031826	HP:0001284	Areflexia	2	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.		65
HP:0031826	HP:0001265	Hyporeflexia	2	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0031826	HP:0001348	Brisk reflexes	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0031826	HP:0002169	Clonus	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0031826	HP:0003487	Babinski sign	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0031826	HP:0001348	Brisk reflexes	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0031826	HP:0001284	Areflexia	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0031826	HP:0001265	Hyporeflexia	2	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0031826	HP:0001284	Areflexia	2	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.		47
HP:0031826	HP:0001284	Areflexia	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0031826	HP:0001265	Hyporeflexia	2	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0031826	HP:0001265	Hyporeflexia	2	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		98
HP:0031826	HP:0001265	Hyporeflexia	2	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.		72
HP:0031826	HP:0003487	Babinski sign	2	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent		20
HP:0031826	HP:0003487	Babinski sign	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0031826	HP:0001265	Hyporeflexia	2	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23	.		15
HP:0031826	HP:0001284	Areflexia	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0031826	HP:0007054	Proximal hyperreflexia	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0031826	HP:0001265	Hyporeflexia	2	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.		45
HP:0031826	HP:0002169	Clonus	2	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0031826	HP:0003487	Babinski sign	2	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0031826	HP:0001284	Areflexia	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0031826	HP:0001348	Brisk reflexes	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0031826	HP:0001348	Brisk reflexes	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0031826	HP:0003487	Babinski sign	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0031826	HP:0030903	Grasp reflex	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0031826	HP:0001265	Hyporeflexia	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0031826	HP:0001284	Areflexia	2	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0031826	HP:0001265	Hyporeflexia	2	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent		7
HP:0031826	HP:0001265	Hyporeflexia	2	PIGG CL E G H	54872	25985	OMIM:616917	Mental retardation, autosomal recessive 53			7
HP:0031826	HP:0001265	Hyporeflexia	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent		37
HP:0031826	HP:0001265	Hyporeflexia	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0031826	HP:0002169	Clonus	2	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0031826	HP:0002169	Clonus	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0031826	HP:0003487	Babinski sign	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0031826	HP:0001265	Hyporeflexia	2	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.		11
HP:0031826	HP:0001284	Areflexia	2	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.		11
HP:0031826	HP:0001284	Areflexia	2	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040281 - Very frequent		11
HP:0031826	HP:0003487	Babinski sign	2	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional		11
HP:0031826	HP:0001348	Brisk reflexes	2	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30			1
HP:0031826	HP:0001348	Brisk reflexes	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0031826	HP:0001284	Areflexia	2	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0031826	HP:0003487	Babinski sign	2	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0031826	HP:0001348	Brisk reflexes	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0031826	HP:0002169	Clonus	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0031826	HP:0003487	Babinski sign	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0031826	HP:0001284	Areflexia	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional		759
HP:0031826	HP:0001284	Areflexia	2	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040283 - Occasional		4
HP:0031826	HP:0001284	Areflexia	2	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	.		186
HP:0031826	HP:0001284	Areflexia	2	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.		186
HP:0031826	HP:0001265	Hyporeflexia	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease			60
HP:0031826	HP:0003487	Babinski sign	2	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional		60
HP:0031826	HP:0003487	Babinski sign	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.		60
HP:0031826	HP:0003487	Babinski sign	2	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040281 - Very frequent		60
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0031826	HP:0001265	Hyporeflexia	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0031826	HP:0001284	Areflexia	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0031826	HP:0001265	Hyporeflexia	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0031826	HP:0001284	Areflexia	2	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0031826	HP:0001265	Hyporeflexia	2	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent		79
HP:0031826	HP:0001265	Hyporeflexia	2	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.		79
HP:0031826	HP:0001284	Areflexia	2	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.		79
HP:0031826	HP:0001265	Hyporeflexia	2	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040282 - Frequent		79
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040284 - Very rare		79
HP:0031826	HP:0001265	Hyporeflexia	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0031826	HP:0001284	Areflexia	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0031826	HP:0001265	Hyporeflexia	2	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0031826	HP:0001284	Areflexia	2	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0031826	HP:0001265	Hyporeflexia	2	PMP22 CL E G H	5376	9118	ORPHA:640	Hereditary neuropathy with liability to pressure palsies	HP:0040283 - Occasional		79
HP:0031826	HP:0001265	Hyporeflexia	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0031826	HP:0001284	Areflexia	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0031826	HP:0001265	Hyporeflexia	2	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies	.		79
HP:0031826	HP:0001284	Areflexia	2	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		79
HP:0031826	HP:0003487	Babinski sign	2	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040283 - Occasional		79
HP:0031826	HP:0001265	Hyporeflexia	2	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0031826	HP:0001284	Areflexia	2	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0031826	HP:0001348	Brisk reflexes	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent		7
HP:0031826	HP:0001265	Hyporeflexia	2	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	HP:0040283 - Occasional		7
HP:0031826	HP:0001284	Areflexia	2	PNKP CL E G H	11284	9154	OMIM:616267	Ataxia-Oculomotor apraxia 4	.		244
HP:0031826	HP:0001265	Hyporeflexia	2	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.		244
HP:0031826	HP:0001284	Areflexia	2	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.		244
HP:0031826	HP:0001265	Hyporeflexia	2	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay	HP:0040283 - Occasional		244
HP:0031826	HP:0001284	Areflexia	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional		65
HP:0031826	HP:0001284	Areflexia	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0031826	HP:0003487	Babinski sign	2	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent		103
HP:0031826	HP:0001265	Hyporeflexia	2	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0031826	HP:0001284	Areflexia	2	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome	.		103
HP:0031826	HP:0003487	Babinski sign	2	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive	.		103
HP:0031826	HP:0001265	Hyporeflexia	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0031826	HP:0001284	Areflexia	2	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0031826	HP:0003487	Babinski sign	2	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0031826	HP:0001284	Areflexia	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0031826	HP:0003487	Babinski sign	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent		60
HP:0031826	HP:0001265	Hyporeflexia	2	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		6
HP:0031826	HP:0001284	Areflexia	2	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent		464
HP:0031826	HP:0001265	Hyporeflexia	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0031826	HP:0001284	Areflexia	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0031826	HP:0001265	Hyporeflexia	2	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0031826	HP:0001284	Areflexia	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0031826	HP:0001265	Hyporeflexia	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0031826	HP:0001265	Hyporeflexia	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0031826	HP:0001284	Areflexia	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0031826	HP:0003487	Babinski sign	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0031826	HP:0001284	Areflexia	2	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent		464
HP:0031826	HP:0001265	Hyporeflexia	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0031826	HP:0001284	Areflexia	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0031826	HP:0003487	Babinski sign	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0031826	HP:0001265	Hyporeflexia	2	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0031826	HP:0001284	Areflexia	2	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional		464
HP:0031826	HP:0001265	Hyporeflexia	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0031826	HP:0001284	Areflexia	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0031826	HP:0003487	Babinski sign	2	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		138
HP:0031826	HP:0003487	Babinski sign	2	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent		138
HP:0031826	HP:0001265	Hyporeflexia	2	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0031826	HP:0003487	Babinski sign	2	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I			67
HP:0031826	HP:0003487	Babinski sign	2	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.		67
HP:0031826	HP:0002169	Clonus	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		180
HP:0031826	HP:0001265	Hyporeflexia	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		180
HP:0031826	HP:0001284	Areflexia	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		180
HP:0031826	HP:0001265	Hyporeflexia	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		33
HP:0031826	HP:0001284	Areflexia	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		33
HP:0031826	HP:0002169	Clonus	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		18
HP:0031826	HP:0001265	Hyporeflexia	2	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.		18
HP:0031826	HP:0001265	Hyporeflexia	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		18
HP:0031826	HP:0001284	Areflexia	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		18
HP:0031826	HP:0002169	Clonus	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		213
HP:0031826	HP:0001265	Hyporeflexia	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		213
HP:0031826	HP:0001284	Areflexia	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		213
HP:0031826	HP:0002169	Clonus	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional		221
HP:0031826	HP:0001265	Hyporeflexia	2	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0031826	HP:0001284	Areflexia	2	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0031826	HP:0001265	Hyporeflexia	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		221
HP:0031826	HP:0001284	Areflexia	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		221
HP:0031826	HP:0001265	Hyporeflexia	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0031826	HP:0002169	Clonus	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0031826	HP:0001348	Brisk reflexes	2	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0031826	HP:0001348	Brisk reflexes	2	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0031826	HP:0001265	Hyporeflexia	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional		41
HP:0031826	HP:0001348	Brisk reflexes	2	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2			2
HP:0031826	HP:0001348	Brisk reflexes	2	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0031826	HP:0001265	Hyporeflexia	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0031826	HP:0001284	Areflexia	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0031826	HP:0001284	Areflexia	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0031826	HP:0001265	Hyporeflexia	2	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0031826	HP:0001265	Hyporeflexia	2	PRDM12 CL E G H	59335	13997	OMIM:616488	Neuropathy, hereditary sensory and autonomic, type VIII			6
HP:0031826	HP:0001265	Hyporeflexia	2	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0031826	HP:0001265	Hyporeflexia	2	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0031826	HP:0003487	Babinski sign	2	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.		133
HP:0031826	HP:0001265	Hyporeflexia	2	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14			83
HP:0031826	HP:0001284	Areflexia	2	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0031826	HP:0001284	Areflexia	2	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040282 - Frequent		69
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional		69
HP:0031826	HP:0003487	Babinski sign	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0031826	HP:0001265	Hyporeflexia	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0031826	HP:0001284	Areflexia	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0031826	HP:0001284	Areflexia	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0031826	HP:0001284	Areflexia	2	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0031826	HP:0001284	Areflexia	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0031826	HP:0001284	Areflexia	2	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040281 - Very frequent		49
HP:0031826	HP:0002169	Clonus	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional		49
HP:0031826	HP:0003487	Babinski sign	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional		49
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0031826	HP:0001348	Brisk reflexes	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040282 - Frequent		94
HP:0031826	HP:0003487	Babinski sign	2	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1	.		73
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1	.		73
HP:0031826	HP:0002169	Clonus	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.		8
HP:0031826	HP:0002169	Clonus	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0031826	HP:0001284	Areflexia	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.		170
HP:0031826	HP:0001265	Hyporeflexia	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0031826	HP:0001284	Areflexia	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0031826	HP:0003487	Babinski sign	2	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.		81
HP:0031826	HP:0001265	Hyporeflexia	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0031826	HP:0002169	Clonus	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0031826	HP:0001265	Hyporeflexia	2	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0031826	HP:0001265	Hyporeflexia	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0031826	HP:0003487	Babinski sign	2	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.		81
HP:0031826	HP:0001265	Hyporeflexia	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0031826	HP:0003487	Babinski sign	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0031826	HP:0001265	Hyporeflexia	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		81
HP:0031826	HP:0003487	Babinski sign	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0031826	HP:0001265	Hyporeflexia	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		81
HP:0031826	HP:0003487	Babinski sign	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		81
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.		241
HP:0031826	HP:0003487	Babinski sign	2	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.		241
HP:0031826	HP:0001284	Areflexia	2	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0031826	HP:0001265	Hyporeflexia	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	HP:0040284 - Very rare		22
HP:0031826	HP:0001265	Hyporeflexia	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0031826	HP:0002169	Clonus	2	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0031826	HP:0003487	Babinski sign	2	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.		11
HP:0031826	HP:0001265	Hyporeflexia	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0031826	HP:0001284	Areflexia	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0031826	HP:0001265	Hyporeflexia	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0031826	HP:0002169	Clonus	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0031826	HP:0002169	Clonus	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0031826	HP:0001265	Hyporeflexia	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.		50
HP:0031826	HP:0001284	Areflexia	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.		50
HP:0031826	HP:0001284	Areflexia	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0031826	HP:0001265	Hyporeflexia	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040281 - Very frequent		150
HP:0031826	HP:0001265	Hyporeflexia	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome			150
HP:0031826	HP:0001284	Areflexia	2	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome	.		150
HP:0031826	HP:0001265	Hyporeflexia	2	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0031826	HP:0001284	Areflexia	2	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0031826	HP:0001348	Brisk reflexes	2	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040281 - Very frequent		87
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040282 - Frequent		87
HP:0031826	HP:0007054	Proximal hyperreflexia	2	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31			87
HP:0031826	HP:0001265	Hyporeflexia	2	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB	.		87
HP:0031826	HP:0001284	Areflexia	2	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB	.		87
HP:0031826	HP:0002169	Clonus	2	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant			87
HP:0031826	HP:0003487	Babinski sign	2	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.		87
HP:0031826	HP:0003487	Babinski sign	2	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.		3
HP:0031826	HP:0001265	Hyporeflexia	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		54
HP:0031826	HP:0001284	Areflexia	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0031826	HP:0001265	Hyporeflexia	2	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.		54
HP:0031826	HP:0001284	Areflexia	2	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB	.		54
HP:0031826	HP:0001284	Areflexia	2	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0031826	HP:0003487	Babinski sign	2	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0031826	HP:0001265	Hyporeflexia	2	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0031826	HP:0001284	Areflexia	2	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0031826	HP:0001265	Hyporeflexia	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0031826	HP:0001284	Areflexia	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0031826	HP:0001284	Areflexia	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0031826	HP:0003487	Babinski sign	2	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	HP:0040283 - Occasional		3
HP:0031826	HP:0001265	Hyporeflexia	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0031826	HP:0007034	Generalized hyperreflexia	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0031826	HP:0001265	Hyporeflexia	2	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant	.		3
HP:0031826	HP:0001284	Areflexia	2	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant	.		3
HP:0031826	HP:0003487	Babinski sign	2	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant	.		3
HP:0031826	HP:0001348	Brisk reflexes	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0031826	HP:0003487	Babinski sign	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0031826	HP:0001284	Areflexia	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0031826	HP:0001265	Hyporeflexia	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0031826	HP:0001284	Areflexia	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0031826	HP:0001265	Hyporeflexia	2	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	HP:0040283 - Occasional		125
HP:0031826	HP:0001265	Hyporeflexia	2	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		77
HP:0031826	HP:0002169	Clonus	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent		25
HP:0031826	HP:0003487	Babinski sign	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent		25
HP:0031826	HP:0007054	Proximal hyperreflexia	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0031826	HP:0002169	Clonus	2	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant			25
HP:0031826	HP:0003487	Babinski sign	2	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.		25
HP:0031826	HP:0001265	Hyporeflexia	2	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040281 - Very frequent		9
HP:0031826	HP:0001265	Hyporeflexia	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0031826	HP:0002169	Clonus	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0031826	HP:0003487	Babinski sign	2	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0031826	HP:0001265	Hyporeflexia	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001284	Areflexia	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0031826	HP:0001284	Areflexia	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0031826	HP:0001284	Areflexia	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0031826	HP:0001265	Hyporeflexia	2	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040281 - Very frequent		1200
HP:0031826	HP:0001265	Hyporeflexia	2	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0031826	HP:0001284	Areflexia	2	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent		1200
HP:0031826	HP:0001284	Areflexia	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0031826	HP:0001265	Hyporeflexia	2	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement			1200
HP:0031826	HP:0001284	Areflexia	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0031826	HP:0003487	Babinski sign	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent		309
HP:0031826	HP:0001284	Areflexia	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0031826	HP:0003487	Babinski sign	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0031826	HP:0007054	Proximal hyperreflexia	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0031826	HP:0002169	Clonus	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome			4
HP:0031826	HP:0003487	Babinski sign	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.		4
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.		4
HP:0031826	HP:0003487	Babinski sign	2	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0031826	HP:0001284	Areflexia	2	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040284 - Very rare		8
HP:0031826	HP:0001284	Areflexia	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	.		16
HP:0031826	HP:0001284	Areflexia	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0031826	HP:0001265	Hyporeflexia	2	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0031826	HP:0001284	Areflexia	2	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0031826	HP:0001348	Brisk reflexes	2	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0031826	HP:0001265	Hyporeflexia	2	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		70
HP:0031826	HP:0001265	Hyporeflexia	2	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		357
HP:0031826	HP:0001265	Hyporeflexia	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		318
HP:0031826	HP:0001284	Areflexia	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0031826	HP:0001284	Areflexia	2	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent		40
HP:0031826	HP:0001265	Hyporeflexia	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0031826	HP:0001265	Hyporeflexia	2	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.		5
HP:0031826	HP:0001284	Areflexia	2	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0031826	HP:0001284	Areflexia	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0031826	HP:0003487	Babinski sign	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0031826	HP:0007054	Proximal hyperreflexia	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0031826	HP:0003487	Babinski sign	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0031826	HP:0003487	Babinski sign	2	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0031826	HP:0003487	Babinski sign	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0031826	HP:0007054	Proximal hyperreflexia	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0031826	HP:0003487	Babinski sign	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0031826	HP:0007054	Proximal hyperreflexia	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0031826	HP:0003487	Babinski sign	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0031826	HP:0007054	Proximal hyperreflexia	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0031826	HP:0002169	Clonus	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0031826	HP:0003487	Babinski sign	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0031826	HP:0002169	Clonus	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0031826	HP:0003487	Babinski sign	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0031826	HP:0001284	Areflexia	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0031826	HP:0001265	Hyporeflexia	2	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		144
HP:0031826	HP:0003487	Babinski sign	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		66
HP:0031826	HP:0002169	Clonus	2	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.		66
HP:0031826	HP:0001265	Hyporeflexia	2	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	HP:0040283 - Occasional
HP:0031826	HP:0001348	Brisk reflexes	2	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58			1
HP:0031826	HP:0002169	Clonus	2	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	HP:0040283 - Occasional		162
HP:0031826	HP:0003487	Babinski sign	2	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.		162
HP:0031826	HP:0003487	Babinski sign	2	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4	HP:0040282 - Frequent		162
HP:0031826	HP:0001284	Areflexia	2	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040281 - Very frequent		162
HP:0031826	HP:0003487	Babinski sign	2	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional		162
HP:0031826	HP:0001265	Hyporeflexia	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0031826	HP:0001284	Areflexia	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0031826	HP:0001284	Areflexia	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040282 - Frequent		493
HP:0031826	HP:0001265	Hyporeflexia	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome	.	HP:0003623 - Neonatal onset	53
HP:0031826	HP:0003487	Babinski sign	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0031826	HP:0001348	Brisk reflexes	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0031826	HP:0002169	Clonus	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0031826	HP:0001265	Hyporeflexia	2	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.		6
HP:0031826	HP:0003487	Babinski sign	2	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.		6
HP:0031826	HP:0001265	Hyporeflexia	2	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional		67
HP:0031826	HP:0001284	Areflexia	2	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040283 - Occasional		67
HP:0031826	HP:0001284	Areflexia	2	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0031826	HP:0001284	Areflexia	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0031826	HP:0001265	Hyporeflexia	2	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		73
HP:0031826	HP:0001348	Brisk reflexes	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0031826	HP:0002169	Clonus	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0031826	HP:0002169	Clonus	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0031826	HP:0003487	Babinski sign	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0031826	HP:0003487	Babinski sign	2	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.		57
HP:0031826	HP:0001265	Hyporeflexia	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0031826	HP:0001284	Areflexia	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0031826	HP:0003487	Babinski sign	2	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0031826	HP:0003487	Babinski sign	2	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0031826	HP:0001265	Hyporeflexia	2	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0031826	HP:0001284	Areflexia	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0031826	HP:0001348	Brisk reflexes	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0031826	HP:0002169	Clonus	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0031826	HP:0003487	Babinski sign	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.		4
HP:0031826	HP:0002169	Clonus	2	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0031826	HP:0001265	Hyporeflexia	2	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.		28
HP:0031826	HP:0001265	Hyporeflexia	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0031826	HP:0001284	Areflexia	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0031826	HP:0007034	Generalized hyperreflexia	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0031826	HP:0002169	Clonus	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0031826	HP:0002169	Clonus	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0031826	HP:0001265	Hyporeflexia	2	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)	.		36
HP:0031826	HP:0001284	Areflexia	2	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0031826	HP:0002169	Clonus	2	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0031826	HP:0001265	Hyporeflexia	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0031826	HP:0001284	Areflexia	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0031826	HP:0001265	Hyporeflexia	2	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	.		68
HP:0031826	HP:0001265	Hyporeflexia	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.		14
HP:0031826	HP:0001284	Areflexia	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0031826	HP:0003487	Babinski sign	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0031826	HP:0001265	Hyporeflexia	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0031826	HP:0001284	Areflexia	2	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0031826	HP:0007034	Generalized hyperreflexia	2	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent		255
HP:0031826	HP:0003487	Babinski sign	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040282 - Frequent		255
HP:0031826	HP:0002169	Clonus	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0031826	HP:0003487	Babinski sign	2	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional		1
HP:0031826	HP:0002169	Clonus	2	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040282 - Frequent		48
HP:0031826	HP:0003487	Babinski sign	2	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent		48
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant	.		48
HP:0031826	HP:0003487	Babinski sign	2	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant	.		48
HP:0031826	HP:0001265	Hyporeflexia	2	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.		24
HP:0031826	HP:0001265	Hyporeflexia	2	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0031826	HP:0002169	Clonus	2	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome			5
HP:0031826	HP:0003487	Babinski sign	2	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0031826	HP:0001348	Brisk reflexes	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0031826	HP:0002169	Clonus	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2			5
HP:0031826	HP:0003487	Babinski sign	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.		5
HP:0031826	HP:0002169	Clonus	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0031826	HP:0003487	Babinski sign	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0031826	HP:0001284	Areflexia	2	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.		47
HP:0031826	HP:0002169	Clonus	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0031826	HP:0007034	Generalized hyperreflexia	2	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.		51
HP:0031826	HP:0001265	Hyporeflexia	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		59
HP:0031826	HP:0001284	Areflexia	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0031826	HP:0001265	Hyporeflexia	2	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.		9
HP:0031826	HP:0001265	Hyporeflexia	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0031826	HP:0001284	Areflexia	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0031826	HP:0001348	Brisk reflexes	2	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0031826	HP:0002169	Clonus	2	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0031826	HP:0001348	Brisk reflexes	2	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0031826	HP:0002169	Clonus	2	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0031826	HP:0001284	Areflexia	2	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.		22
HP:0031826	HP:0001265	Hyporeflexia	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.		22
HP:0031826	HP:0001284	Areflexia	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0031826	HP:0001284	Areflexia	2	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV			22
HP:0031826	HP:0001265	Hyporeflexia	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.		1
HP:0031826	HP:0001284	Areflexia	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0031826	HP:0001265	Hyporeflexia	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.		164
HP:0031826	HP:0001284	Areflexia	2	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.		2
HP:0031826	HP:0001265	Hyporeflexia	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0031826	HP:0001284	Areflexia	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0031826	HP:0001284	Areflexia	2	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040282 - Frequent		94
HP:0031826	HP:0001284	Areflexia	2	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0031826	HP:0003487	Babinski sign	2	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		65
HP:0031826	HP:0001265	Hyporeflexia	2	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.		3
HP:0031826	HP:0001265	Hyporeflexia	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0031826	HP:0001265	Hyporeflexia	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0031826	HP:0003487	Babinski sign	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0031826	HP:0001265	Hyporeflexia	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0031826	HP:0003487	Babinski sign	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.		14
HP:0031826	HP:0002169	Clonus	2	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0031826	HP:0003487	Babinski sign	2	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0031826	HP:0001265	Hyporeflexia	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0031826	HP:0001284	Areflexia	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease	.		61
HP:0031826	HP:0002169	Clonus	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0031826	HP:0003487	Babinski sign	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0031826	HP:0002169	Clonus	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0031826	HP:0003487	Babinski sign	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0031826	HP:0001348	Brisk reflexes	2	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent		208
HP:0031826	HP:0002169	Clonus	2	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4			208
HP:0031826	HP:0003487	Babinski sign	2	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent		208
HP:0031826	HP:0007054	Proximal hyperreflexia	2	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4			208
HP:0031826	HP:0003487	Babinski sign	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0031826	HP:0001284	Areflexia	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0031826	HP:0001284	Areflexia	2	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0031826	HP:0003487	Babinski sign	2	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.		287
HP:0031826	HP:0007054	Proximal hyperreflexia	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0031826	HP:0001284	Areflexia	2	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	.		287
HP:0031826	HP:0001348	Brisk reflexes	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		287
HP:0031826	HP:0002169	Clonus	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0031826	HP:0002169	Clonus	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0031826	HP:0003487	Babinski sign	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0031826	HP:0003487	Babinski sign	2	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.		28
HP:0031826	HP:0003487	Babinski sign	2	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040281 - Very frequent		171
HP:0031826	HP:0007034	Generalized hyperreflexia	2	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040281 - Very frequent		171
HP:0031826	HP:0003487	Babinski sign	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent		171
HP:0031826	HP:0003487	Babinski sign	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent		171
HP:0031826	HP:0001348	Brisk reflexes	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031826	HP:0002169	Clonus	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031826	HP:0001284	Areflexia	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0031826	HP:0001348	Brisk reflexes	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		54
HP:0031826	HP:0002169	Clonus	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0031826	HP:0001265	Hyporeflexia	2	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.		54
HP:0031826	HP:0001284	Areflexia	2	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.		54
HP:0031826	HP:0001265	Hyporeflexia	2	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0031826	HP:0007054	Proximal hyperreflexia	2	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0031826	HP:0001265	Hyporeflexia	2	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0031826	HP:0001265	Hyporeflexia	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		62
HP:0031826	HP:0003487	Babinski sign	2	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		62
HP:0031826	HP:0001284	Areflexia	2	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV			62
HP:0031826	HP:0001265	Hyporeflexia	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0031826	HP:0001265	Hyporeflexia	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.		14
HP:0031826	HP:0001265	Hyporeflexia	2	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0031826	HP:0001284	Areflexia	2	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0031826	HP:0002169	Clonus	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0031826	HP:0003487	Babinski sign	2	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0031826	HP:0002169	Clonus	2	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0031826	HP:0003487	Babinski sign	2	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16			14
HP:0031826	HP:0001265	Hyporeflexia	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0031826	HP:0001265	Hyporeflexia	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0031826	HP:0001265	Hyporeflexia	2	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0031826	HP:0001284	Areflexia	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0031826	HP:0001284	Areflexia	2	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K	.		73
HP:0031826	HP:0001348	Brisk reflexes	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0031826	HP:0001265	Hyporeflexia	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0031826	HP:0001284	Areflexia	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0031826	HP:0002169	Clonus	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0031826	HP:0003487	Babinski sign	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040282 - Frequent		1129
HP:0031826	HP:0001265	Hyporeflexia	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0031826	HP:0001265	Hyporeflexia	2	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0031826	HP:0001265	Hyporeflexia	2	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040282 - Frequent		9
HP:0031826	HP:0001265	Hyporeflexia	2	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		9
HP:0031826	HP:0001265	Hyporeflexia	2	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic	.		4
HP:0031826	HP:0001284	Areflexia	2	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic	.		4
HP:0031826	HP:0001284	Areflexia	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0031826	HP:0001265	Hyporeflexia	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0031826	HP:0001284	Areflexia	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0031826	HP:0001265	Hyporeflexia	2	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18	.		123
HP:0031826	HP:0001265	Hyporeflexia	2	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		123
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	TAF1 CL E G H	6872	11535	ORPHA:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	HP:0040283 - Occasional		21
HP:0031826	HP:0003487	Babinski sign	2	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.		7
HP:0031826	HP:0003487	Babinski sign	2	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent		7
HP:0031826	HP:0002169	Clonus	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.		12
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.		12
HP:0031826	HP:0002169	Clonus	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0031826	HP:0003487	Babinski sign	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0031826	HP:0001265	Hyporeflexia	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0031826	HP:0003487	Babinski sign	2	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0031826	HP:0001265	Hyporeflexia	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		65
HP:0031826	HP:0003487	Babinski sign	2	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		65
HP:0031826	HP:0001265	Hyporeflexia	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0031826	HP:0007034	Generalized hyperreflexia	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0031826	HP:0003487	Babinski sign	2	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0031826	HP:0001265	Hyporeflexia	2	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0031826	HP:0001265	Hyporeflexia	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0031826	HP:0001265	Hyporeflexia	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0031826	HP:0001284	Areflexia	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0031826	HP:0001348	Brisk reflexes	2	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0031826	HP:0001265	Hyporeflexia	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0031826	HP:0001284	Areflexia	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040282 - Frequent		13
HP:0031826	HP:0001265	Hyporeflexia	2	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0031826	HP:0001265	Hyporeflexia	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		20
HP:0031826	HP:0003487	Babinski sign	2	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		20
HP:0031826	HP:0001284	Areflexia	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G			78
HP:0031826	HP:0001284	Areflexia	2	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent		52
HP:0031826	HP:0001265	Hyporeflexia	2	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	.		52
HP:0031826	HP:0001284	Areflexia	2	TDP1 CL E G H	55775	18884	OMIM:607250	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1	.		52
HP:0031826	HP:0001284	Areflexia	2	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent		39
HP:0031826	HP:0001284	Areflexia	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.		39
HP:0031826	HP:0001265	Hyporeflexia	2	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		238
HP:0031826	HP:0003487	Babinski sign	2	TFG CL E G H	10342	11758	ORPHA:431329	Autosomal recessive spastic paraplegia type 57	HP:0040281 - Very frequent		18
HP:0031826	HP:0001284	Areflexia	2	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent		18
HP:0031826	HP:0001284	Areflexia	2	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.		18
HP:0031826	HP:0003487	Babinski sign	2	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.		18
HP:0031826	HP:0001265	Hyporeflexia	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		155
HP:0031826	HP:0003487	Babinski sign	2	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.		58
HP:0031826	HP:0003487	Babinski sign	2	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040282 - Frequent		58
HP:0031826	HP:0001348	Brisk reflexes	2	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0031826	HP:0003487	Babinski sign	2	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0031826	HP:0002169	Clonus	2	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent		1
HP:0031826	HP:0001284	Areflexia	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0031826	HP:0002169	Clonus	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	HP:0040284 - Very rare		1
HP:0031826	HP:0002169	Clonus	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0031826	HP:0003487	Babinski sign	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0031826	HP:0001265	Hyporeflexia	2	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040283 - Occasional		60
HP:0031826	HP:0001265	Hyporeflexia	2	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		103
HP:0031826	HP:0001265	Hyporeflexia	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0031826	HP:0001265	Hyporeflexia	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0031826	HP:0001348	Brisk reflexes	2	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0031826	HP:0001265	Hyporeflexia	2	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.		9
HP:0031826	HP:0003487	Babinski sign	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0031826	HP:0003487	Babinski sign	2	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0031826	HP:0007054	Proximal hyperreflexia	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0031826	HP:0001284	Areflexia	2	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0031826	HP:0003487	Babinski sign	2	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0031826	HP:0001265	Hyporeflexia	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0031826	HP:0001265	Hyporeflexia	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		54
HP:0031826	HP:0001284	Areflexia	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0031826	HP:0001284	Areflexia	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0031826	HP:0001265	Hyporeflexia	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0031826	HP:0001265	Hyporeflexia	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		54
HP:0031826	HP:0001265	Hyporeflexia	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		108
HP:0031826	HP:0001284	Areflexia	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0031826	HP:0001284	Areflexia	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0031826	HP:0001265	Hyporeflexia	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0031826	HP:0001284	Areflexia	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		108
HP:0031826	HP:0001265	Hyporeflexia	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional		92
HP:0031826	HP:0003487	Babinski sign	2	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent		203
HP:0031826	HP:0003487	Babinski sign	2	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.		203
HP:0031826	HP:0002169	Clonus	2	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0031826	HP:0001265	Hyporeflexia	2	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0031826	HP:0001265	Hyporeflexia	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent		27
HP:0031826	HP:0003487	Babinski sign	2	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0031826	HP:0001284	Areflexia	2	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.		3
HP:0031826	HP:0001265	Hyporeflexia	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.		108
HP:0031826	HP:0001284	Areflexia	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.		108
HP:0031826	HP:0001265	Hyporeflexia	2	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0031826	HP:0001284	Areflexia	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0031826	HP:0001348	Brisk reflexes	2	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0031826	HP:0001265	Hyporeflexia	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0031826	HP:0003487	Babinski sign	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0031826	HP:0001265	Hyporeflexia	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent		101
HP:0031826	HP:0001265	Hyporeflexia	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent
HP:0031826	HP:0001265	Hyporeflexia	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0031826	HP:0003487	Babinski sign	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0031826	HP:0001265	Hyporeflexia	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001265	Hyporeflexia	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001348	Brisk reflexes	2	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0031826	HP:0001348	Brisk reflexes	2	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0031826	HP:0001348	Brisk reflexes	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0031826	HP:0001348	Brisk reflexes	2	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0031826	HP:0001348	Brisk reflexes	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0031826	HP:0001348	Brisk reflexes	2	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0031826	HP:0001284	Areflexia	2	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040283 - Occasional
HP:0031826	HP:0001265	Hyporeflexia	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001265	Hyporeflexia	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0031826	HP:0001265	Hyporeflexia	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0031826	HP:0001284	Areflexia	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0031826	HP:0001265	Hyporeflexia	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0031826	HP:0001284	Areflexia	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0031826	HP:0001265	Hyporeflexia	2	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0031826	HP:0001284	Areflexia	2	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0031826	HP:0003487	Babinski sign	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		3
HP:0031826	HP:0001265	Hyporeflexia	2	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0031826	HP:0003487	Babinski sign	2	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	HP:0040283 - Occasional		3
HP:0031826	HP:0003487	Babinski sign	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		84
HP:0031826	HP:0002169	Clonus	2	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.		84
HP:0031826	HP:0003487	Babinski sign	2	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.		84
HP:0031826	HP:0003487	Babinski sign	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		57
HP:0031826	HP:0003487	Babinski sign	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		102
HP:0031826	HP:0001265	Hyporeflexia	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0031826	HP:0001265	Hyporeflexia	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional		97
HP:0031826	HP:0001348	Brisk reflexes	2	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0031826	HP:0003487	Babinski sign	2	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0031826	HP:0001265	Hyporeflexia	2	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040282 - Frequent		1
HP:0031826	HP:0003487	Babinski sign	2	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	HP:0040283 - Occasional		88
HP:0031826	HP:0001284	Areflexia	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0031826	HP:0001284	Areflexia	2	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040281 - Very frequent		62
HP:0031826	HP:0001284	Areflexia	2	TTPA CL E G H	7274	12404	OMIM:277460	VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF	.		62
HP:0031826	HP:0001265	Hyporeflexia	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0031826	HP:0001265	Hyporeflexia	2	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040281 - Very frequent		21
HP:0031826	HP:0030903	Grasp reflex	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0031826	HP:0001348	Brisk reflexes	2	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0031826	HP:0001265	Hyporeflexia	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0031826	HP:0001284	Areflexia	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0031826	HP:0001284	Areflexia	2	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.		113
HP:0031826	HP:0001265	Hyporeflexia	2	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5	.		113
HP:0031826	HP:0001265	Hyporeflexia	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0031826	HP:0001284	Areflexia	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0031826	HP:0001265	Hyporeflexia	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0031826	HP:0001284	Areflexia	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0031826	HP:0003487	Babinski sign	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0031826	HP:0001265	Hyporeflexia	2	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0031826	HP:0001284	Areflexia	2	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional		113
HP:0031826	HP:0001284	Areflexia	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0031826	HP:0003487	Babinski sign	2	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0031826	HP:0001284	Areflexia	2	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040281 - Very frequent		35
HP:0031826	HP:0001284	Areflexia	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0031826	HP:0001265	Hyporeflexia	2	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		13
HP:0031826	HP:0002169	Clonus	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0031826	HP:0003487	Babinski sign	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0031826	HP:0007054	Proximal hyperreflexia	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0031826	HP:0003487	Babinski sign	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	.
HP:0031826	HP:0007054	Proximal hyperreflexia	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent		278
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent		278
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		278
HP:0031826	HP:0002169	Clonus	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0031826	HP:0003487	Babinski sign	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0031826	HP:0002169	Clonus	2	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0031826	HP:0001284	Areflexia	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0031826	HP:0003487	Babinski sign	2	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0031826	HP:0006801	Hyperactive deep tendon reflexes	2	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent		8
HP:0031826	HP:0002169	Clonus	2	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040282 - Frequent		7
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040282 - Frequent		7
HP:0031826	HP:0003487	Babinski sign	2	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040282 - Frequent		2
HP:0031826	HP:0001284	Areflexia	2	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0031826	HP:0001265	Hyporeflexia	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0031826	HP:0001284	Areflexia	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0031826	HP:0001284	Areflexia	2	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0031826	HP:0001265	Hyporeflexia	2	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included	.		116
HP:0031826	HP:0001348	Brisk reflexes	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0031826	HP:0002169	Clonus	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0031826	HP:0003487	Babinski sign	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0031826	HP:0001284	Areflexia	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0031826	HP:0001284	Areflexia	2	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y	.		63
HP:0031826	HP:0001265	Hyporeflexia	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		63
HP:0031826	HP:0003487	Babinski sign	2	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		63
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040280 - Obligate		63
HP:0031826	HP:0003487	Babinski sign	2	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040280 - Obligate		63
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32			1
HP:0031826	HP:0001265	Hyporeflexia	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.		130
HP:0031826	HP:0001284	Areflexia	2	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.		130
HP:0031826	HP:0001284	Areflexia	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0031826	HP:0003487	Babinski sign	2	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0031826	HP:0001265	Hyporeflexia	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0031826	HP:0001265	Hyporeflexia	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0031826	HP:0002169	Clonus	2	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040281 - Very frequent		7
HP:0031826	HP:0007054	Proximal hyperreflexia	2	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53			7
HP:0031826	HP:0002169	Clonus	2	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53			7
HP:0031826	HP:0001265	Hyporeflexia	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0031826	HP:0001348	Brisk reflexes	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0031826	HP:0001265	Hyporeflexia	2	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0031826	HP:0001265	Hyporeflexia	2	WARS1 CL E G H	7453	12729	OMIM:617721	Neuronopathy, distal hereditary motor, type IX	.
HP:0031826	HP:0002169	Clonus	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040283 - Occasional		83
HP:0031826	HP:0003487	Babinski sign	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent		83
HP:0031826	HP:0003487	Babinski sign	2	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.		83
HP:0031826	HP:0001348	Brisk reflexes	2	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0031826	HP:0001348	Brisk reflexes	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0031826	HP:0001265	Hyporeflexia	2	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.		27
HP:0031826	HP:0001265	Hyporeflexia	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		199
HP:0031826	HP:0001284	Areflexia	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0031826	HP:0001265	Hyporeflexia	2	WWOX CL E G H	51741	12799	ORPHA:284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	HP:0040281 - Very frequent		149
HP:0031826	HP:0001265	Hyporeflexia	2	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent		149
HP:0031826	HP:0001265	Hyporeflexia	2	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	.		149
HP:0031826	HP:0003487	Babinski sign	2	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12	HP:0040283 - Occasional		149
HP:0031826	HP:0001284	Areflexia	2	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.		8
HP:0031826	HP:0001265	Hyporeflexia	2	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0031826	HP:0001284	Areflexia	2	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.		4
HP:0031826	HP:0001284	Areflexia	2	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0031826	HP:0001265	Hyporeflexia	2	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0031826	HP:0001284	Areflexia	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0031826	HP:0003487	Babinski sign	2	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent		1
HP:0031826	HP:0002395	Lower limb hyperreflexia	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0031826	HP:0003487	Babinski sign	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0031826	HP:0002169	Clonus	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0031826	HP:0003487	Babinski sign	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0031826	HP:0002169	Clonus	2	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant			52
HP:0031826	HP:0003487	Babinski sign	2	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.		52
HP:0031826	HP:0001265	Hyporeflexia	2	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.		5
HP:0031826	HP:0011728	Elbow clonus	3	CL E G H
HP:0031826	HP:0012392	Jaw hyporeflexia	3	CL E G H
HP:0031826	HP:0031004	Hemiareflexia	3	CL E G H
HP:0031826	HP:0033206	Hyperactive Achilles reflex	3	CL E G H
HP:0031826	HP:0002522	Areflexia of lower limbs	3	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0031826	HP:0011448	Ankle clonus	3	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0031826	HP:0011448	Ankle clonus	3	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0031826	HP:0002522	Areflexia of lower limbs	3	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0031826	HP:0012391	Hyporeflexia of upper limbs	3	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0031826	HP:0011448	Ankle clonus	3	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal			88
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040281 - Very frequent		89
HP:0031826	HP:0002522	Areflexia of lower limbs	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent		89
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent		89
HP:0031826	HP:0002522	Areflexia of lower limbs	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040281 - Very frequent		89
HP:0031826	HP:0011448	Ankle clonus	3	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent		64
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61	HP:0040282 - Frequent		1
HP:0031826	HP:0002522	Areflexia of lower limbs	3	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive			1
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.		1
HP:0031826	HP:0011448	Ankle clonus	3	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040282 - Frequent		71
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF	.		5
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent		100
HP:0031826	HP:0002522	Areflexia of lower limbs	3	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040282 - Frequent		36
HP:0031826	HP:0012391	Hyporeflexia of upper limbs	3	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040282 - Frequent		36
HP:0031826	HP:0011448	Ankle clonus	3	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional		36
HP:0031826	HP:0002522	Areflexia of lower limbs	3	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0031826	HP:0002522	Areflexia of lower limbs	3	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		99
HP:0031826	HP:0002522	Areflexia of lower limbs	3	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent		114
HP:0031826	HP:0002522	Areflexia of lower limbs	3	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040282 - Frequent		4
HP:0031826	HP:0011448	Ankle clonus	3	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040283 - Occasional		4
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0031826	HP:0011448	Ankle clonus	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0031826	HP:0011448	Ankle clonus	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0031826	HP:0012046	Areflexia of upper limbs	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0031826	HP:0011448	Ankle clonus	3	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive			18
HP:0031826	HP:0011448	Ankle clonus	3	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040282 - Frequent		57
HP:0031826	HP:0002522	Areflexia of lower limbs	3	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional		263
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.		263
HP:0031826	HP:0012046	Areflexia of upper limbs	3	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0031826	HP:0002522	Areflexia of lower limbs	3	DNAJC3 CL E G H	5611	9439	OMIM:616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus			3
HP:0031826	HP:0002522	Areflexia of lower limbs	3	DNAJC3 CL E G H	5611	9439	ORPHA:445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	HP:0040282 - Frequent		3
HP:0031826	HP:0002522	Areflexia of lower limbs	3	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		167
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0031826	HP:0002522	Areflexia of lower limbs	3	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0031826	HP:0002522	Areflexia of lower limbs	3	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1			600
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1			600
HP:0031826	HP:0002522	Areflexia of lower limbs	3	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0031826	HP:0002522	Areflexia of lower limbs	3	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive			2
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0031826	HP:0011448	Ankle clonus	3	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional		18
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional		18
HP:0031826	HP:0011448	Ankle clonus	3	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional		18
HP:0031826	HP:0011448	Ankle clonus	3	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent		76
HP:0031826	HP:0011448	Ankle clonus	3	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	HP:0040283 - Occasional		76
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040281 - Very frequent		7
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0031826	HP:0002522	Areflexia of lower limbs	3	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0031826	HP:0011448	Ankle clonus	3	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040281 - Very frequent		197
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional		33
HP:0031826	HP:0002522	Areflexia of lower limbs	3	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent		18
HP:0031826	HP:0002522	Areflexia of lower limbs	3	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.		18
HP:0031826	HP:0011448	Ankle clonus	3	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0031826	HP:0002522	Areflexia of lower limbs	3	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0031826	HP:0011448	Ankle clonus	3	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0031826	HP:0011449	Knee clonus	3	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0031826	HP:0002522	Areflexia of lower limbs	3	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0031826	HP:0012391	Hyporeflexia of upper limbs	3	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0031826	HP:0011448	Ankle clonus	3	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0031826	HP:0002522	Areflexia of lower limbs	3	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0031826	HP:0002522	Areflexia of lower limbs	3	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0031826	HP:0002522	Areflexia of lower limbs	3	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0031826	HP:0002522	Areflexia of lower limbs	3	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0031826	HP:0002522	Areflexia of lower limbs	3	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0031826	HP:0002522	Areflexia of lower limbs	3	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0031826	HP:0002522	Areflexia of lower limbs	3	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0031826	HP:0002522	Areflexia of lower limbs	3	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.		47
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.		47
HP:0031826	HP:0002522	Areflexia of lower limbs	3	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.		13
HP:0031826	HP:0002522	Areflexia of lower limbs	3	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.		38
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.		38
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent		46
HP:0031826	HP:0011448	Ankle clonus	3	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.		12
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent		16
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040282 - Frequent		1
HP:0031826	HP:0002522	Areflexia of lower limbs	3	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0031826	HP:0012046	Areflexia of upper limbs	3	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0031826	HP:0002522	Areflexia of lower limbs	3	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0031826	HP:0011448	Ankle clonus	3	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.		276
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent		93
HP:0031826	HP:0011448	Ankle clonus	3	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040284 - Very rare		93
HP:0031826	HP:0011448	Ankle clonus	3	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.		93
HP:0031826	HP:0011449	Knee clonus	3	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.		93
HP:0031826	HP:0002522	Areflexia of lower limbs	3	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0031826	HP:0011448	Ankle clonus	3	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent		1
HP:0031826	HP:0002522	Areflexia of lower limbs	3	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.		286
HP:0031826	HP:0002522	Areflexia of lower limbs	3	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0031826	HP:0002522	Areflexia of lower limbs	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent		645
HP:0031826	HP:0002522	Areflexia of lower limbs	3	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0031826	HP:0002522	Areflexia of lower limbs	3	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0031826	HP:0002522	Areflexia of lower limbs	3	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent		203
HP:0031826	HP:0002522	Areflexia of lower limbs	3	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0031826	HP:0002522	Areflexia of lower limbs	3	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0031826	HP:0002522	Areflexia of lower limbs	3	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		7
HP:0031826	HP:0011449	Knee clonus	3	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0031826	HP:0002522	Areflexia of lower limbs	3	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		19
HP:0031826	HP:0002522	Areflexia of lower limbs	3	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0031826	HP:0002522	Areflexia of lower limbs	3	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body			75
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.		75
HP:0031826	HP:0011448	Ankle clonus	3	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0031826	HP:0002522	Areflexia of lower limbs	3	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E			118
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0031826	HP:0002522	Areflexia of lower limbs	3	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0031826	HP:0002522	Areflexia of lower limbs	3	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent		163
HP:0031826	HP:0002522	Areflexia of lower limbs	3	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.		19
HP:0031826	HP:0002522	Areflexia of lower limbs	3	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0031826	HP:0002522	Areflexia of lower limbs	3	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0031826	HP:0011448	Ankle clonus	3	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0031826	HP:0002522	Areflexia of lower limbs	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG			15
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0031826	HP:0011448	Ankle clonus	3	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0031826	HP:0011448	Ankle clonus	3	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0031826	HP:0011448	Ankle clonus	3	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0031826	HP:0002522	Areflexia of lower limbs	3	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4			4
HP:0031826	HP:0002522	Areflexia of lower limbs	3	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0031826	HP:0002522	Areflexia of lower limbs	3	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent		79
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent		79
HP:0031826	HP:0012391	Hyporeflexia of upper limbs	3	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent		79
HP:0031826	HP:0002522	Areflexia of lower limbs	3	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0031826	HP:0002522	Areflexia of lower limbs	3	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent		60
HP:0031826	HP:0002522	Areflexia of lower limbs	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0031826	HP:0002522	Areflexia of lower limbs	3	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0031826	HP:0002522	Areflexia of lower limbs	3	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0031826	HP:0002522	Areflexia of lower limbs	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0031826	HP:0011448	Ankle clonus	3	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional		83
HP:0031826	HP:0002522	Areflexia of lower limbs	3	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.		49
HP:0031826	HP:0011448	Ankle clonus	3	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0031826	HP:0002522	Areflexia of lower limbs	3	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0031826	HP:0011448	Ankle clonus	3	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.		85
HP:0031826	HP:0002522	Areflexia of lower limbs	3	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0031826	HP:0002522	Areflexia of lower limbs	3	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0031826	HP:0002522	Areflexia of lower limbs	3	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040282 - Frequent		87
HP:0031826	HP:0011448	Ankle clonus	3	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.		87
HP:0031826	HP:0002522	Areflexia of lower limbs	3	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		3
HP:0031826	HP:0002522	Areflexia of lower limbs	3	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		125
HP:0031826	HP:0002522	Areflexia of lower limbs	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional		25
HP:0031826	HP:0011448	Ankle clonus	3	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.		25
HP:0031826	HP:0011449	Knee clonus	3	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.		25
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0031826	HP:0012391	Hyporeflexia of upper limbs	3	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15			9
HP:0031826	HP:0002522	Areflexia of lower limbs	3	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0031826	HP:0012391	Hyporeflexia of upper limbs	3	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent		1200
HP:0031826	HP:0002522	Areflexia of lower limbs	3	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0031826	HP:0002522	Areflexia of lower limbs	3	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0031826	HP:0011448	Ankle clonus	3	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.		4
HP:0031826	HP:0002522	Areflexia of lower limbs	3	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0031826	HP:0012046	Areflexia of upper limbs	3	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0031826	HP:0007083	Hyperactive patellar reflex	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0031826	HP:0011448	Ankle clonus	3	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0031826	HP:0011448	Ankle clonus	3	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0031826	HP:0011448	Ankle clonus	3	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0031826	HP:0011448	Ankle clonus	3	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly			4
HP:0031826	HP:0002522	Areflexia of lower limbs	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0031826	HP:0011448	Ankle clonus	3	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent		5
HP:0031826	HP:0011448	Ankle clonus	3	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.		5
HP:0031826	HP:0011448	Ankle clonus	3	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0031826	HP:0011449	Knee clonus	3	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0031826	HP:0002522	Areflexia of lower limbs	3	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0031826	HP:0011448	Ankle clonus	3	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0031826	HP:0002522	Areflexia of lower limbs	3	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.		22
HP:0031826	HP:0002522	Areflexia of lower limbs	3	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.		22
HP:0031826	HP:0002522	Areflexia of lower limbs	3	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.		1
HP:0031826	HP:0011448	Ankle clonus	3	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0031826	HP:0011448	Ankle clonus	3	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional		66
HP:0031826	HP:0011448	Ankle clonus	3	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0031826	HP:0011449	Knee clonus	3	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040283 - Occasional		208
HP:0031826	HP:0011448	Ankle clonus	3	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent		208
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent		287
HP:0031826	HP:0011448	Ankle clonus	3	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0031826	HP:0011449	Knee clonus	3	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0031826	HP:0002522	Areflexia of lower limbs	3	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV			62
HP:0031826	HP:0012391	Hyporeflexia of upper limbs	3	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0031826	HP:0002522	Areflexia of lower limbs	3	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.		31
HP:0031826	HP:0002600	Hyporeflexia of lower limbs	3	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.		31
HP:0031826	HP:0011448	Ankle clonus	3	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional		14
HP:0031826	HP:0011448	Ankle clonus	3	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16	HP:0040283 - Occasional		14
HP:0031826	HP:0011448	Ankle clonus	3	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0031826	HP:0002522	Areflexia of lower limbs	3	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.		78
HP:0031826	HP:0011448	Ankle clonus	3	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0031826	HP:0002522	Areflexia of lower limbs	3	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0031826	HP:0012391	Hyporeflexia of upper limbs	3	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0031826	HP:0002522	Areflexia of lower limbs	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0031826	HP:0002522	Areflexia of lower limbs	3	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0031826	HP:0002522	Areflexia of lower limbs	3	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0031826	HP:0011448	Ankle clonus	3	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0031826	HP:0011448	Ankle clonus	3	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0031826	HP:0002522	Areflexia of lower limbs	3	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0031826	HP:0002522	Areflexia of lower limbs	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0031826	HP:0007350	Hyperreflexia in upper limbs	3	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040281 - Very frequent		7
HP:0031826	HP:0002522	Areflexia of lower limbs	3	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0031826	HP:0012046	Areflexia of upper limbs	3	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0031826	HP:0011448	Ankle clonus	3	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.		52
HP:0031826	HP:0033200	Triceps hyporeflexia	4	CL E G H
HP:0031826	HP:0033201	Biceps hyporeflexia	4	CL E G H
HP:0031826	HP:0033202	Brachioradialis hyporeflexia	4	CL E G H
HP:0031826	HP:0033203	Brachioradialis hyperreflexia	4	CL E G H
HP:0031826	HP:0033205	Biceps hyperreflexia	4	CL E G H
HP:0031826	HP:0033228	Triceps areflexia	4	CL E G H
HP:0031826	HP:0033230	Biceps areflexia	4	CL E G H
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0031826	HP:0033204	Triceps hyperreflexia	4	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS			254
HP:0031826	HP:0009072	Decreased Achilles reflex	4	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040283 - Occasional
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B			89
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B			89
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive			1
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0031826	HP:0009072	Decreased Achilles reflex	4	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0031826	HP:0011808	Decreased patellar reflex	4	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0031826	HP:0033229	Brachioradialis areflexia	4	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0031826	HP:0009072	Decreased Achilles reflex	4	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.		46
HP:0031826	HP:0011808	Decreased patellar reflex	4	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.		427
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.		600
HP:0031826	HP:0009072	Decreased Achilles reflex	4	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.		600
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040283 - Occasional		600
HP:0031826	HP:0006844	Absent patellar reflexes	4	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	HP:0040283 - Occasional		2
HP:0031826	HP:0006844	Absent patellar reflexes	4	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0031826	HP:0011808	Decreased patellar reflex	4	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0031826	HP:0009072	Decreased Achilles reflex	4	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0031826	HP:0009072	Decreased Achilles reflex	4	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent		107
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0031826	HP:0011808	Decreased patellar reflex	4	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0031826	HP:0011808	Decreased patellar reflex	4	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC			13
HP:0031826	HP:0006844	Absent patellar reflexes	4	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC			13
HP:0031826	HP:0009072	Decreased Achilles reflex	4	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent		16
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0031826	HP:0006844	Absent patellar reflexes	4	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent		3
HP:0031826	HP:0009072	Decreased Achilles reflex	4	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare		286
HP:0031826	HP:0011808	Decreased patellar reflex	4	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare		286
HP:0031826	HP:0006844	Absent patellar reflexes	4	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040283 - Occasional		144
HP:0031826	HP:0006844	Absent patellar reflexes	4	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0031826	HP:0006844	Absent patellar reflexes	4	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder			532
HP:0031826	HP:0006844	Absent patellar reflexes	4	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0031826	HP:0011808	Decreased patellar reflex	4	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss			227
HP:0031826	HP:0009072	Decreased Achilles reflex	4	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent		1269
HP:0031826	HP:0011808	Decreased patellar reflex	4	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040282 - Frequent		1269
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body			75
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent		118
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4			4
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0031826	HP:0006844	Absent patellar reflexes	4	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0031826	HP:0006844	Absent patellar reflexes	4	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040282 - Frequent		150
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0031826	HP:0006844	Absent patellar reflexes	4	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0031826	HP:0006844	Absent patellar reflexes	4	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV			62
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0031826	HP:0200101	Decreased/absent ankle reflexes	4	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0031826	HP:0003438	Absent Achilles reflex	5	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0031826	HP:0003438	Absent Achilles reflex	5	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0031826	HP:0003438	Absent Achilles reflex	5	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040283 - Occasional		89
HP:0031826	HP:0003438	Absent Achilles reflex	5	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.		1
HP:0031826	HP:0003438	Absent Achilles reflex	5	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional		36
HP:0031826	HP:0003438	Absent Achilles reflex	5	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0031826	HP:0003438	Absent Achilles reflex	5	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent		114
HP:0031826	HP:0003438	Absent Achilles reflex	5	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0031826	HP:0003438	Absent Achilles reflex	5	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040283 - Occasional		600
HP:0031826	HP:0003438	Absent Achilles reflex	5	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0031826	HP:0003438	Absent Achilles reflex	5	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0031826	HP:0003438	Absent Achilles reflex	5	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent		173
HP:0031826	HP:0003438	Absent Achilles reflex	5	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0031826	HP:0003438	Absent Achilles reflex	5	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0031826	HP:0003438	Absent Achilles reflex	5	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent		12
HP:0031826	HP:0003438	Absent Achilles reflex	5	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC			13
HP:0031826	HP:0003438	Absent Achilles reflex	5	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy			1
HP:0031826	HP:0003438	Absent Achilles reflex	5	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040283 - Occasional		3
HP:0031826	HP:0003438	Absent Achilles reflex	5	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040281 - Very frequent		203
HP:0031826	HP:0003438	Absent Achilles reflex	5	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0031826	HP:0003438	Absent Achilles reflex	5	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent		532
HP:0031826	HP:0003438	Absent Achilles reflex	5	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.		75
HP:0031826	HP:0003438	Absent Achilles reflex	5	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional		214
HP:0031826	HP:0003438	Absent Achilles reflex	5	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional		163
HP:0031826	HP:0003438	Absent Achilles reflex	5	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040281 - Very frequent		4
HP:0031826	HP:0003438	Absent Achilles reflex	5	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0031826	HP:0003438	Absent Achilles reflex	5	PLEKHG4 CL E G H	25894	24501	ORPHA:98765	Spinocerebellar ataxia type 4	HP:0040281 - Very frequent		4
HP:0031826	HP:0003438	Absent Achilles reflex	5	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0031826	HP:0003438	Absent Achilles reflex	5	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		464
HP:0031826	HP:0003438	Absent Achilles reflex	5	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0031826	HP:0003438	Absent Achilles reflex	5	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		45
HP:0031826	HP:0003438	Absent Achilles reflex	5	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0031826	HP:0003438	Absent Achilles reflex	5	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0031826	HP:0003438	Absent Achilles reflex	5	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		125
HP:0031826	HP:0003438	Absent Achilles reflex	5	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040283 - Occasional		309
HP:0031826	HP:0003438	Absent Achilles reflex	5	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0031826	HP:0003438	Absent Achilles reflex	5	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		68
HP:0031826	HP:0003438	Absent Achilles reflex	5	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0031826	HP:0003438	Absent Achilles reflex	5	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0031826	HP:0003438	Absent Achilles reflex	5	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV			62
HP:0031826	HP:0003438	Absent Achilles reflex	5	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0031826	HP:0003438	Absent Achilles reflex	5	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		113
HP:0031826	HP:0003438	Absent Achilles reflex	5	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0031826	HP:0003438	Absent Achilles reflex	5	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent		63
HP:0031826	HP:0003438	Absent Achilles reflex	5	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent		130
HP:0031826	HP:0003438	Absent Achilles reflex	5	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8