Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	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