Human Phenotype Ontology

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

Grandparent Node:
Abnormality of movement (HP:0100022)

Parent Node:
Abnormal reflex (HP:0031826)

..Starting node
..Hyperreflexia (HP:0001347)

Term ID:

1347

Name:

Hyperreflexia

Synonym:

Increased deep tendon reflexes; Increased reflexes

Definition:

Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.

Comments:

Reference:

HP:0001347

Genes and Diseases:

Child Nodes:

........

Brisk reflexes (HP:0001348)

........

Clonus (HP:0002169)

................... HP:0011448 Ankle clonus
................... HP:0011449 Knee clonus
................... HP:0011728 Elbow clonus

........

Lower limb hyperreflexia (HP:0002395)

................... HP:0007083 Hyperactive patellar reflex

........

Hyperactive deep tendon reflexes (HP:0006801)

........

Generalized hyperreflexia (HP:0007034)

........

Hyperreflexia proximally (HP:0007054)

........

Hyperreflexia in upper limbs (HP:0007350)

Sister Nodes:

Abnormal superficial reflex (HP:0031828)

Reduced tendon reflexes (HP:0001315)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001347	HP:0001347	Hyperreflexia	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0001347	HP:0001347	Hyperreflexia	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0001347	HP:0001347	Hyperreflexia	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001347	HP:0001347	Hyperreflexia	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0001347	HP:0001347	Hyperreflexia	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0001347	HP:0001347	Hyperreflexia	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	826
HP:0001347	HP:0001347	Hyperreflexia	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0001347	HP:0001347	Hyperreflexia	0	ABCB7 CL E G H	22	48	ORPHA:2802	X-linked sideroblastic anemia and spinocerebellar ataxia	HP:0040282 - Frequent	35
HP:0001347	HP:0001347	Hyperreflexia	0	ABCC8 CL E G H	6833	59	OMIM:240800	Hypoglycemia of infancy, leucine-sensitive	.	245
HP:0001347	HP:0001347	Hyperreflexia	0	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0001347	HP:0001347	Hyperreflexia	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0001347	HP:0001347	Hyperreflexia	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0001347	HP:0001347	Hyperreflexia	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	.	50
HP:0001347	HP:0001347	Hyperreflexia	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001347	HP:0001347	Hyperreflexia	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent	120
HP:0001347	HP:0001347	Hyperreflexia	0	ACSL4 CL E G H	2182	3571	OMIM:300387	MENTAL RETARDATION, X-LINKED 63; MRX63		19
HP:0001347	HP:0001347	Hyperreflexia	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	HP:0040283 - Occasional	96
HP:0001347	HP:0001347	Hyperreflexia	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	116
HP:0001347	HP:0001347	Hyperreflexia	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	HP:0040283 - Occasional	25
HP:0001347	HP:0001347	Hyperreflexia	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040283 - Occasional	25
HP:0001347	HP:0001347	Hyperreflexia	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0001347	HP:0001347	Hyperreflexia	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0001347	HP:0001347	Hyperreflexia	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0001347	HP:0001347	Hyperreflexia	0	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28		86
HP:0001347	HP:0001347	Hyperreflexia	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28		86
HP:0001347	HP:0001347	Hyperreflexia	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	2
HP:0001347	HP:0001347	Hyperreflexia	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0001347	HP:0001347	Hyperreflexia	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	175
HP:0001347	HP:0001347	Hyperreflexia	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	2
HP:0001347	HP:0001347	Hyperreflexia	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0001347	HP:0001347	Hyperreflexia	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0001347	HP:0001347	Hyperreflexia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0001347	HP:0001347	Hyperreflexia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0001347	HP:0001347	Hyperreflexia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0001347	HP:0001347	Hyperreflexia	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0001347	HP:0001347	Hyperreflexia	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0001347	HP:0001347	Hyperreflexia	0	ALDH18A1 CL E G H	5832	9722	OMIM:219150	Cutis laxa, autosomal recessive, type IIIA	.	89
HP:0001347	HP:0001347	Hyperreflexia	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant	.	89
HP:0001347	HP:0001347	Hyperreflexia	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	.	89
HP:0001347	HP:0001347	Hyperreflexia	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040282 - Frequent	41
HP:0001347	HP:0001347	Hyperreflexia	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.	46
HP:0001347	HP:0001347	Hyperreflexia	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0001347	HP:0001347	Hyperreflexia	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0001347	HP:0001347	Hyperreflexia	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0001347	HP:0001347	Hyperreflexia	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0001347	HP:0001347	Hyperreflexia	0	ALS2 CL E G H	57679	443	ORPHA:293168	Infantile-onset ascending hereditary spastic paralysis	HP:0040281 - Very frequent	114
HP:0001347	HP:0001347	Hyperreflexia	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0001347	HP:0001347	Hyperreflexia	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	114
HP:0001347	HP:0001347	Hyperreflexia	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0001347	HP:0001347	Hyperreflexia	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.	114
HP:0001347	HP:0001347	Hyperreflexia	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency		44
HP:0001347	HP:0001347	Hyperreflexia	0	AMPD2 CL E G H	271	469	ORPHA:401805	Autosomal recessive spastic paraplegia type 63	HP:0040282 - Frequent	21
HP:0001347	HP:0001347	Hyperreflexia	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0001347	HP:0001347	Hyperreflexia	0	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive	.	21
HP:0001347	HP:0001347	Hyperreflexia	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.	56
HP:0001347	HP:0001347	Hyperreflexia	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	3
HP:0001347	HP:0001347	Hyperreflexia	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0001347	HP:0001347	Hyperreflexia	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.	64
HP:0001347	HP:0001347	Hyperreflexia	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0001347	HP:0001347	Hyperreflexia	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	49
HP:0001347	HP:0001347	Hyperreflexia	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0001347	HP:0001347	Hyperreflexia	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	48
HP:0001347	HP:0001347	Hyperreflexia	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0001347	HP:0001347	Hyperreflexia	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	41
HP:0001347	HP:0001347	Hyperreflexia	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0001347	HP:0001347	Hyperreflexia	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	18
HP:0001347	HP:0001347	Hyperreflexia	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0001347	HP:0001347	Hyperreflexia	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent	165
HP:0001347	HP:0001347	Hyperreflexia	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3		39
HP:0001347	HP:0001347	Hyperreflexia	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	6
HP:0001347	HP:0001347	Hyperreflexia	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	3
HP:0001347	HP:0001347	Hyperreflexia	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	1
HP:0001347	HP:0001347	Hyperreflexia	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	29
HP:0001347	HP:0001347	Hyperreflexia	0	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61		1
HP:0001347	HP:0001347	Hyperreflexia	0	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0001347	HP:0001347	Hyperreflexia	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.	253
HP:0001347	HP:0001347	Hyperreflexia	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1	.	166
HP:0001347	HP:0001347	Hyperreflexia	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0001347	HP:0001347	Hyperreflexia	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0001347	HP:0001347	Hyperreflexia	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040283 - Occasional	48
HP:0001347	HP:0001347	Hyperreflexia	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent	48
HP:0001347	HP:0001347	Hyperreflexia	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	512
HP:0001347	HP:0001347	Hyperreflexia	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0001347	HP:0001347	Hyperreflexia	0	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0001347	HP:0001347	Hyperreflexia	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3		71
HP:0001347	HP:0001347	Hyperreflexia	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID	HP:0040283 - Occasional	71
HP:0001347	HP:0001347	Hyperreflexia	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.	71
HP:0001347	HP:0001347	Hyperreflexia	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040281 - Very frequent	100
HP:0001347	HP:0001347	Hyperreflexia	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0001347	HP:0001347	Hyperreflexia	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome	.	100
HP:0001347	HP:0001347	Hyperreflexia	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0001347	HP:0001347	Hyperreflexia	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0001347	HP:0001347	Hyperreflexia	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0001347	HP:0001347	Hyperreflexia	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001347	HP:0001347	Hyperreflexia	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0001347	HP:0001347	Hyperreflexia	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent
HP:0001347	HP:0001347	Hyperreflexia	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040282 - Frequent
HP:0001347	HP:0001347	Hyperreflexia	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked	HP:0040283 - Occasional	36
HP:0001347	HP:0001347	Hyperreflexia	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0001347	HP:0001347	Hyperreflexia	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0001347	HP:0001347	Hyperreflexia	0	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent	24
HP:0001347	HP:0001347	Hyperreflexia	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0001347	HP:0001347	Hyperreflexia	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0001347	HP:0001347	Hyperreflexia	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1		19
HP:0001347	HP:0001347	Hyperreflexia	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10	.	9
HP:0001347	HP:0001347	Hyperreflexia	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040283 - Occasional	9
HP:0001347	HP:0001347	Hyperreflexia	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0001347	HP:0001347	Hyperreflexia	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0001347	HP:0001347	Hyperreflexia	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0001347	HP:0001347	Hyperreflexia	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0001347	HP:0001347	Hyperreflexia	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:0001347	HP:0001347	Hyperreflexia	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040280 - Obligate	8
HP:0001347	HP:0001347	Hyperreflexia	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	AUH CL E G H	549	890	OMIM:250950	3-methylglutaconic aciduria, type I	.	49
HP:0001347	HP:0001347	Hyperreflexia	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional	61
HP:0001347	HP:0001347	Hyperreflexia	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040282 - Frequent	25
HP:0001347	HP:0001347	Hyperreflexia	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0001347	HP:0001347	Hyperreflexia	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	114
HP:0001347	HP:0001347	Hyperreflexia	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	97
HP:0001347	HP:0001347	Hyperreflexia	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0001347	HP:0001347	Hyperreflexia	0	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0001347	HP:0001347	Hyperreflexia	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.	72
HP:0001347	HP:0001347	Hyperreflexia	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040283 - Occasional	1
HP:0001347	HP:0001347	Hyperreflexia	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	182
HP:0001347	HP:0001347	Hyperreflexia	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040283 - Occasional	46
HP:0001347	HP:0001347	Hyperreflexia	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional	46
HP:0001347	HP:0001347	Hyperreflexia	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0001347	HP:0001347	Hyperreflexia	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0001347	HP:0001347	Hyperreflexia	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0001347	HP:0001347	Hyperreflexia	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0001347	HP:0001347	Hyperreflexia	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0001347	HP:0001347	Hyperreflexia	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040282 - Frequent	105
HP:0001347	HP:0001347	Hyperreflexia	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional	105
HP:0001347	HP:0001347	Hyperreflexia	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.	105
HP:0001347	HP:0001347	Hyperreflexia	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent	105
HP:0001347	HP:0001347	Hyperreflexia	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.	105
HP:0001347	HP:0001347	Hyperreflexia	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0001347	HP:0001347	Hyperreflexia	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0001347	HP:0001347	Hyperreflexia	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0001347	HP:0001347	Hyperreflexia	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.	114
HP:0001347	HP:0001347	Hyperreflexia	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001347	HP:0001347	Hyperreflexia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	56
HP:0001347	HP:0001347	Hyperreflexia	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	23
HP:0001347	HP:0001347	Hyperreflexia	0	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent	8
HP:0001347	HP:0001347	Hyperreflexia	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0001347	HP:0001347	Hyperreflexia	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.	449
HP:0001347	HP:0001347	Hyperreflexia	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent	449
HP:0001347	HP:0001347	Hyperreflexia	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.	11
HP:0001347	HP:0001347	Hyperreflexia	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42	HP:0040283 - Occasional	32
HP:0001347	HP:0001347	Hyperreflexia	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.	32
HP:0001347	HP:0001347	Hyperreflexia	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001347	HP:0001347	Hyperreflexia	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0001347	HP:0001347	Hyperreflexia	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76		4
HP:0001347	HP:0001347	Hyperreflexia	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0001347	HP:0001347	Hyperreflexia	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001347	HP:0001347	Hyperreflexia	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001347	HP:0001347	Hyperreflexia	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.	118
HP:0001347	HP:0001347	Hyperreflexia	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0001347	HP:0001347	Hyperreflexia	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	247
HP:0001347	HP:0001347	Hyperreflexia	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0001347	HP:0001347	Hyperreflexia	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0001347	HP:0001347	Hyperreflexia	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0001347	HP:0001347	Hyperreflexia	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040281 - Very frequent	56
HP:0001347	HP:0001347	Hyperreflexia	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0001347	HP:0001347	Hyperreflexia	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001347	HP:0001347	Hyperreflexia	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001347	HP:0001347	Hyperreflexia	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	147
HP:0001347	HP:0001347	Hyperreflexia	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	181
HP:0001347	HP:0001347	Hyperreflexia	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	6
HP:0001347	HP:0001347	Hyperreflexia	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	161
HP:0001347	HP:0001347	Hyperreflexia	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	38
HP:0001347	HP:0001347	Hyperreflexia	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	146
HP:0001347	HP:0001347	Hyperreflexia	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	31
HP:0001347	HP:0001347	Hyperreflexia	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	71
HP:0001347	HP:0001347	Hyperreflexia	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant	.	3
HP:0001347	HP:0001347	Hyperreflexia	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0001347	HP:0001347	Hyperreflexia	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.	19
HP:0001347	HP:0001347	Hyperreflexia	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	42
HP:0001347	HP:0001347	Hyperreflexia	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0001347	HP:0001347	Hyperreflexia	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0001347	HP:0001347	Hyperreflexia	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	15
HP:0001347	HP:0001347	Hyperreflexia	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0001347	HP:0001347	Hyperreflexia	0	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0001347	HP:0001347	Hyperreflexia	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0001347	HP:0001347	Hyperreflexia	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040281 - Very frequent	7
HP:0001347	HP:0001347	Hyperreflexia	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0001347	HP:0001347	Hyperreflexia	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent	38
HP:0001347	HP:0001347	Hyperreflexia	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001347	HP:0001347	Hyperreflexia	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	60
HP:0001347	HP:0001347	Hyperreflexia	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	44
HP:0001347	HP:0001347	Hyperreflexia	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	164
HP:0001347	HP:0001347	Hyperreflexia	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0001347	HP:0001347	Hyperreflexia	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.	9
HP:0001347	HP:0001347	Hyperreflexia	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0001347	HP:0001347	Hyperreflexia	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0001347	HP:0001347	Hyperreflexia	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001347	HP:0001347	Hyperreflexia	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0001347	HP:0001347	Hyperreflexia	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001347	HP:0001347	Hyperreflexia	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040283 - Occasional	136
HP:0001347	HP:0001347	Hyperreflexia	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	.	136
HP:0001347	HP:0001347	Hyperreflexia	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.	44
HP:0001347	HP:0001347	Hyperreflexia	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0001347	HP:0001347	Hyperreflexia	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0001347	HP:0001347	Hyperreflexia	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001347	HP:0001347	Hyperreflexia	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001347	HP:0001347	Hyperreflexia	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040281 - Very frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.	1
HP:0001347	HP:0001347	Hyperreflexia	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0001347	HP:0001347	Hyperreflexia	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	156
HP:0001347	HP:0001347	Hyperreflexia	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001347	HP:0001347	Hyperreflexia	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	158
HP:0001347	HP:0001347	Hyperreflexia	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0001347	HP:0001347	Hyperreflexia	0	CSF1R CL E G H	1436	2433	OMIM:221820	Leukoencephalopathy, diffuse hereditary, with spheroids	.	149
HP:0001347	HP:0001347	Hyperreflexia	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.	2
HP:0001347	HP:0001347	Hyperreflexia	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.	20
HP:0001347	HP:0001347	Hyperreflexia	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.	9
HP:0001347	HP:0001347	Hyperreflexia	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65		1
HP:0001347	HP:0001347	Hyperreflexia	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0001347	HP:0001347	Hyperreflexia	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0001347	HP:0001347	Hyperreflexia	0	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56		18
HP:0001347	HP:0001347	Hyperreflexia	0	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0001347	HP:0001347	Hyperreflexia	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A		57
HP:0001347	HP:0001347	Hyperreflexia	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.	57
HP:0001347	HP:0001347	Hyperreflexia	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001347	HP:0001347	Hyperreflexia	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.	60
HP:0001347	HP:0001347	Hyperreflexia	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2		36
HP:0001347	HP:0001347	Hyperreflexia	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0001347	HP:0001347	Hyperreflexia	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0001347	HP:0001347	Hyperreflexia	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040281 - Very frequent	35
HP:0001347	HP:0001347	Hyperreflexia	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.	35
HP:0001347	HP:0001347	Hyperreflexia	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.	29
HP:0001347	HP:0001347	Hyperreflexia	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0001347	HP:0001347	Hyperreflexia	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0001347	HP:0001347	Hyperreflexia	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	47
HP:0001347	HP:0001347	Hyperreflexia	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	1
HP:0001347	HP:0001347	Hyperreflexia	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0001347	HP:0001347	Hyperreflexia	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency		82
HP:0001347	HP:0001347	Hyperreflexia	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0001347	HP:0001347	Hyperreflexia	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0001347	HP:0001347	Hyperreflexia	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect		94
HP:0001347	HP:0001347	Hyperreflexia	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0001347	HP:0001347	Hyperreflexia	0	DNMT1 CL E G H	1786	2976	OMIM:604121	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant	.	145
HP:0001347	HP:0001347	Hyperreflexia	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	.	38
HP:0001347	HP:0001347	Hyperreflexia	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0001347	HP:0001347	Hyperreflexia	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040283 - Occasional	144
HP:0001347	HP:0001347	Hyperreflexia	0	DSTYK CL E G H	25778	29043	ORPHA:101003	Autosomal recessive spastic paraplegia type 23	HP:0040282 - Frequent	13
HP:0001347	HP:0001347	Hyperreflexia	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.	13
HP:0001347	HP:0001347	Hyperreflexia	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001347	HP:0001347	Hyperreflexia	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional	65
HP:0001347	HP:0001347	Hyperreflexia	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.	1
HP:0001347	HP:0001347	Hyperreflexia	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0001347	HP:0001347	Hyperreflexia	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26		4
HP:0001347	HP:0001347	Hyperreflexia	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0001347	HP:0001347	Hyperreflexia	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040282 - Frequent	8
HP:0001347	HP:0001347	Hyperreflexia	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0001347	HP:0001347	Hyperreflexia	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0001347	HP:0001347	Hyperreflexia	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0001347	HP:0001347	Hyperreflexia	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001347	HP:0001347	Hyperreflexia	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.	62
HP:0001347	HP:0001347	Hyperreflexia	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58		6
HP:0001347	HP:0001347	Hyperreflexia	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0001347	HP:0001347	Hyperreflexia	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001347	HP:0001347	Hyperreflexia	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001347	HP:0001347	Hyperreflexia	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0001347	HP:0001347	Hyperreflexia	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001347	HP:0001347	Hyperreflexia	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001347	HP:0001347	Hyperreflexia	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0001347	HP:0001347	Hyperreflexia	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0001347	HP:0001347	Hyperreflexia	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0001347	HP:0001347	Hyperreflexia	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0001347	HP:0001347	Hyperreflexia	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0001347	HP:0001347	Hyperreflexia	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0001347	HP:0001347	Hyperreflexia	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0001347	HP:0001347	Hyperreflexia	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0001347	HP:0001347	Hyperreflexia	0	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040282 - Frequent	2
HP:0001347	HP:0001347	Hyperreflexia	0	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive		2
HP:0001347	HP:0001347	Hyperreflexia	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent	18
HP:0001347	HP:0001347	Hyperreflexia	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent	18
HP:0001347	HP:0001347	Hyperreflexia	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0001347	HP:0001347	Hyperreflexia	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.	18
HP:0001347	HP:0001347	Hyperreflexia	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0001347	HP:0001347	Hyperreflexia	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0001347	HP:0001347	Hyperreflexia	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0001347	HP:0001347	Hyperreflexia	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001347	HP:0001347	Hyperreflexia	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0001347	HP:0001347	Hyperreflexia	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0001347	HP:0001347	Hyperreflexia	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001347	HP:0001347	Hyperreflexia	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001347	HP:0001347	Hyperreflexia	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0001347	HP:0001347	Hyperreflexia	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0001347	HP:0001347	Hyperreflexia	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	209
HP:0001347	HP:0001347	Hyperreflexia	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040281 - Very frequent	76
HP:0001347	HP:0001347	Hyperreflexia	0	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	.	76
HP:0001347	HP:0001347	Hyperreflexia	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	56
HP:0001347	HP:0001347	Hyperreflexia	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0001347	HP:0001347	Hyperreflexia	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0001347	HP:0001347	Hyperreflexia	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0001347	HP:0001347	Hyperreflexia	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0001347	HP:0001347	Hyperreflexia	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001347	HP:0001347	Hyperreflexia	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0001347	HP:0001347	Hyperreflexia	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001347	HP:0001347	Hyperreflexia	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0001347	HP:0001347	Hyperreflexia	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0001347	HP:0001347	Hyperreflexia	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0001347	HP:0001347	Hyperreflexia	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0001347	HP:0001347	Hyperreflexia	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0001347	HP:0001347	Hyperreflexia	0	FARS2 CL E G H	10667	21062	OMIM:617046	Spastic paraplegia 77, autosomal recessive	.	36
HP:0001347	HP:0001347	Hyperreflexia	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0001347	HP:0001347	Hyperreflexia	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0001347	HP:0001347	Hyperreflexia	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0001347	HP:0001347	Hyperreflexia	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0001347	HP:0001347	Hyperreflexia	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0001347	HP:0001347	Hyperreflexia	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0001347	HP:0001347	Hyperreflexia	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0001347	HP:0001347	Hyperreflexia	0	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0001347	HP:0001347	Hyperreflexia	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0001347	HP:0001347	Hyperreflexia	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0001347	HP:0001347	Hyperreflexia	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	26
HP:0001347	HP:0001347	Hyperreflexia	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.	33
HP:0001347	HP:0001347	Hyperreflexia	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0001347	HP:0001347	Hyperreflexia	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0001347	HP:0001347	Hyperreflexia	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0001347	HP:0001347	Hyperreflexia	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89		44
HP:0001347	HP:0001347	Hyperreflexia	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease		160
HP:0001347	HP:0001347	Hyperreflexia	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0001347	HP:0001347	Hyperreflexia	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease		160
HP:0001347	HP:0001347	Hyperreflexia	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.	91
HP:0001347	HP:0001347	Hyperreflexia	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.	121
HP:0001347	HP:0001347	Hyperreflexia	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0001347	HP:0001347	Hyperreflexia	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0001347	HP:0001347	Hyperreflexia	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0001347	HP:0001347	Hyperreflexia	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0001347	HP:0001347	Hyperreflexia	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		86
HP:0001347	HP:0001347	Hyperreflexia	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0001347	HP:0001347	Hyperreflexia	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional	2
HP:0001347	HP:0001347	Hyperreflexia	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.	5
HP:0001347	HP:0001347	Hyperreflexia	0	GDAP2 CL E G H	54834	18010	OMIM:618369	Spinocerebellar ataxia, autosomal recessive 27	.
HP:0001347	HP:0001347	Hyperreflexia	0	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001347	HP:0001347	Hyperreflexia	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I		188
HP:0001347	HP:0001347	Hyperreflexia	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II		188
HP:0001347	HP:0001347	Hyperreflexia	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.	85
HP:0001347	HP:0001347	Hyperreflexia	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0001347	HP:0001347	Hyperreflexia	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0001347	HP:0001347	Hyperreflexia	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent	68
HP:0001347	HP:0001347	Hyperreflexia	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0001347	HP:0001347	Hyperreflexia	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0001347	HP:0001347	Hyperreflexia	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive	.	37
HP:0001347	HP:0001347	Hyperreflexia	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.	166
HP:0001347	HP:0001347	Hyperreflexia	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0001347	HP:0001347	Hyperreflexia	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	63
HP:0001347	HP:0001347	Hyperreflexia	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	46
HP:0001347	HP:0001347	Hyperreflexia	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2	.	46
HP:0001347	HP:0001347	Hyperreflexia	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent	17
HP:0001347	HP:0001347	Hyperreflexia	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0001347	HP:0001347	Hyperreflexia	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0001347	HP:0001347	Hyperreflexia	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.	6
HP:0001347	HP:0001347	Hyperreflexia	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040281 - Very frequent	69
HP:0001347	HP:0001347	Hyperreflexia	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.	69
HP:0001347	HP:0001347	Hyperreflexia	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0001347	HP:0001347	Hyperreflexia	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	24
HP:0001347	HP:0001347	Hyperreflexia	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0001347	HP:0001347	Hyperreflexia	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040282 - Frequent	7
HP:0001347	HP:0001347	Hyperreflexia	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0001347	HP:0001347	Hyperreflexia	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001347	HP:0001347	Hyperreflexia	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0001347	HP:0001347	Hyperreflexia	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001347	HP:0001347	Hyperreflexia	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0001347	HP:0001347	Hyperreflexia	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	18
HP:0001347	HP:0001347	Hyperreflexia	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.	18
HP:0001347	HP:0001347	Hyperreflexia	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.	4
HP:0001347	HP:0001347	Hyperreflexia	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040282 - Frequent	4
HP:0001347	HP:0001347	Hyperreflexia	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0001347	HP:0001347	Hyperreflexia	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0001347	HP:0001347	Hyperreflexia	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.	108
HP:0001347	HP:0001347	Hyperreflexia	0	GRM1 CL E G H	2911	4593	ORPHA:324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	HP:0040281 - Very frequent	8
HP:0001347	HP:0001347	Hyperreflexia	0	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0001347	HP:0001347	Hyperreflexia	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0001347	HP:0001347	Hyperreflexia	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA		5
HP:0001347	HP:0001347	Hyperreflexia	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	126
HP:0001347	HP:0001347	Hyperreflexia	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001347	HP:0001347	Hyperreflexia	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001347	HP:0001347	Hyperreflexia	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0001347	HP:0001347	Hyperreflexia	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	36
HP:0001347	HP:0001347	Hyperreflexia	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001347	HP:0001347	Hyperreflexia	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0001347	HP:0001347	Hyperreflexia	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001347	HP:0001347	Hyperreflexia	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0001347	HP:0001347	Hyperreflexia	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0001347	HP:0001347	Hyperreflexia	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	86
HP:0001347	HP:0001347	Hyperreflexia	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent	32
HP:0001347	HP:0001347	Hyperreflexia	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.	3
HP:0001347	HP:0001347	Hyperreflexia	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0001347	HP:0001347	Hyperreflexia	0	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0001347	HP:0001347	Hyperreflexia	0	HPRT1 CL E G H	3251	5157	ORPHA:79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	HP:0040283 - Occasional	76
HP:0001347	HP:0001347	Hyperreflexia	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome	.	76
HP:0001347	HP:0001347	Hyperreflexia	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0001347	HP:0001347	Hyperreflexia	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0001347	HP:0001347	Hyperreflexia	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent	46
HP:0001347	HP:0001347	Hyperreflexia	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.	46
HP:0001347	HP:0001347	Hyperreflexia	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.	46
HP:0001347	HP:0001347	Hyperreflexia	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0001347	HP:0001347	Hyperreflexia	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001347	HP:0001347	Hyperreflexia	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	39
HP:0001347	HP:0001347	Hyperreflexia	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040281 - Very frequent	12
HP:0001347	HP:0001347	Hyperreflexia	0	HTT CL E G H	3064	4851	OMIM:143100	Huntington disease	.	12
HP:0001347	HP:0001347	Hyperreflexia	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040282 - Frequent	12
HP:0001347	HP:0001347	Hyperreflexia	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.	12
HP:0001347	HP:0001347	Hyperreflexia	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type	.	98
HP:0001347	HP:0001347	Hyperreflexia	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0001347	HP:0001347	Hyperreflexia	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0001347	HP:0001347	Hyperreflexia	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.	16
HP:0001347	HP:0001347	Hyperreflexia	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	30
HP:0001347	HP:0001347	Hyperreflexia	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome		6
HP:0001347	HP:0001347	Hyperreflexia	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0001347	HP:0001347	Hyperreflexia	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18		1
HP:0001347	HP:0001347	Hyperreflexia	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	148
HP:0001347	HP:0001347	Hyperreflexia	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	48
HP:0001347	HP:0001347	Hyperreflexia	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	3
HP:0001347	HP:0001347	Hyperreflexia	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001347	HP:0001347	Hyperreflexia	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001347	HP:0001347	Hyperreflexia	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	52
HP:0001347	HP:0001347	Hyperreflexia	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		1
HP:0001347	HP:0001347	Hyperreflexia	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	4
HP:0001347	HP:0001347	Hyperreflexia	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	120
HP:0001347	HP:0001347	Hyperreflexia	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	111
HP:0001347	HP:0001347	Hyperreflexia	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0001347	HP:0001347	Hyperreflexia	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0001347	HP:0001347	Hyperreflexia	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.	1
HP:0001347	HP:0001347	Hyperreflexia	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.	7
HP:0001347	HP:0001347	Hyperreflexia	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.	177
HP:0001347	HP:0001347	Hyperreflexia	0	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16	HP:0040282 - Frequent	177
HP:0001347	HP:0001347	Hyperreflexia	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0001347	HP:0001347	Hyperreflexia	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	.	4
HP:0001347	HP:0001347	Hyperreflexia	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2	.	2
HP:0001347	HP:0001347	Hyperreflexia	0	JPH3 CL E G H	57338	14203	ORPHA:98934	Huntington disease-like 2	HP:0040283 - Occasional	2
HP:0001347	HP:0001347	Hyperreflexia	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0001347	HP:0001347	Hyperreflexia	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0001347	HP:0001347	Hyperreflexia	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13	.	17
HP:0001347	HP:0001347	Hyperreflexia	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040282 - Frequent	17
HP:0001347	HP:0001347	Hyperreflexia	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	HP:0040283 - Occasional	35
HP:0001347	HP:0001347	Hyperreflexia	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040282 - Frequent	35
HP:0001347	HP:0001347	Hyperreflexia	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0001347	HP:0001347	Hyperreflexia	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0001347	HP:0001347	Hyperreflexia	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040281 - Very frequent	3
HP:0001347	HP:0001347	Hyperreflexia	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0001347	HP:0001347	Hyperreflexia	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy		528
HP:0001347	HP:0001347	Hyperreflexia	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy		302
HP:0001347	HP:0001347	Hyperreflexia	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0001347	HP:0001347	Hyperreflexia	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0001347	HP:0001347	Hyperreflexia	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0001347	HP:0001347	Hyperreflexia	0	KDM5C CL E G H	8242	11114	ORPHA:85279	Syndromic X-linked intellectual disability due to JARID1C mutation	HP:0040282 - Frequent	81
HP:0001347	HP:0001347	Hyperreflexia	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0001347	HP:0001347	Hyperreflexia	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	9
HP:0001347	HP:0001347	Hyperreflexia	0	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30		276
HP:0001347	HP:0001347	Hyperreflexia	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	.	276
HP:0001347	HP:0001347	Hyperreflexia	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0001347	HP:0001347	Hyperreflexia	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0001347	HP:0001347	Hyperreflexia	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040283 - Occasional	38
HP:0001347	HP:0001347	Hyperreflexia	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0001347	HP:0001347	Hyperreflexia	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0001347	HP:0001347	Hyperreflexia	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0001347	HP:0001347	Hyperreflexia	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	3
HP:0001347	HP:0001347	Hyperreflexia	0	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0001347	HP:0001347	Hyperreflexia	0	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome		1
HP:0001347	HP:0001347	Hyperreflexia	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	42
HP:0001347	HP:0001347	Hyperreflexia	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	112
HP:0001347	HP:0001347	Hyperreflexia	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040282 - Frequent
HP:0001347	HP:0001347	Hyperreflexia	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0001347	HP:0001347	Hyperreflexia	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome		3
HP:0001347	HP:0001347	Hyperreflexia	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040281 - Very frequent	134
HP:0001347	HP:0001347	Hyperreflexia	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0001347	HP:0001347	Hyperreflexia	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001347	HP:0001347	Hyperreflexia	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0001347	HP:0001347	Hyperreflexia	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0001347	HP:0001347	Hyperreflexia	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0001347	HP:0001347	Hyperreflexia	0	LMNB1 CL E G H	4001	6637	OMIM:169500	Leukodystrophy, adult-onset, autosomal dominant	.	44
HP:0001347	HP:0001347	Hyperreflexia	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	62
HP:0001347	HP:0001347	Hyperreflexia	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0001347	HP:0001347	Hyperreflexia	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0001347	HP:0001347	Hyperreflexia	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0001347	HP:0001347	Hyperreflexia	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0001347	HP:0001347	Hyperreflexia	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0001347	HP:0001347	Hyperreflexia	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive		4
HP:0001347	HP:0001347	Hyperreflexia	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	53
HP:0001347	HP:0001347	Hyperreflexia	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0001347	HP:0001347	Hyperreflexia	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	140
HP:0001347	HP:0001347	Hyperreflexia	0	MARS2 CL E G H	92935	25133	ORPHA:314603	Autosomal recessive spastic ataxia with leukoencephalopathy	HP:0040281 - Very frequent	25
HP:0001347	HP:0001347	Hyperreflexia	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive	.	25
HP:0001347	HP:0001347	Hyperreflexia	0	MAT1A CL E G H	4143	6903	OMIM:250850	METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY	.	82
HP:0001347	HP:0001347	Hyperreflexia	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0001347	HP:0001347	Hyperreflexia	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0001347	HP:0001347	Hyperreflexia	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	HP:0040283 - Occasional	5
HP:0001347	HP:0001347	Hyperreflexia	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.	81
HP:0001347	HP:0001347	Hyperreflexia	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	.	77
HP:0001347	HP:0001347	Hyperreflexia	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001347	HP:0001347	Hyperreflexia	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.	78
HP:0001347	HP:0001347	Hyperreflexia	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent	78
HP:0001347	HP:0001347	Hyperreflexia	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	155
HP:0001347	HP:0001347	Hyperreflexia	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.	950
HP:0001347	HP:0001347	Hyperreflexia	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.	950
HP:0001347	HP:0001347	Hyperreflexia	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome		950
HP:0001347	HP:0001347	Hyperreflexia	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.	6
HP:0001347	HP:0001347	Hyperreflexia	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.	23
HP:0001347	HP:0001347	Hyperreflexia	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0001347	HP:0001347	Hyperreflexia	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	75
HP:0001347	HP:0001347	Hyperreflexia	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001347	HP:0001347	Hyperreflexia	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.	17
HP:0001347	HP:0001347	Hyperreflexia	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0001347	HP:0001347	Hyperreflexia	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	HP:0040283 - Occasional	203
HP:0001347	HP:0001347	Hyperreflexia	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	5
HP:0001347	HP:0001347	Hyperreflexia	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0001347	HP:0001347	Hyperreflexia	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001347	HP:0001347	Hyperreflexia	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001347	HP:0001347	Hyperreflexia	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	3
HP:0001347	HP:0001347	Hyperreflexia	0	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0001347	HP:0001347	Hyperreflexia	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0001347	HP:0001347	Hyperreflexia	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN		8
HP:0001347	HP:0001347	Hyperreflexia	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001347	HP:0001347	Hyperreflexia	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0001347	HP:0001347	Hyperreflexia	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001347	HP:0001347	Hyperreflexia	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.	1
HP:0001347	HP:0001347	Hyperreflexia	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001347	HP:0001347	Hyperreflexia	0	MSTN CL E G H	2660	4223	OMIM:614160	MUSCLE HYPERTROPHY; MSLHP		34
HP:0001347	HP:0001347	Hyperreflexia	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0001347	HP:0001347	Hyperreflexia	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040281 - Very frequent	19
HP:0001347	HP:0001347	Hyperreflexia	0	MTPAP CL E G H	55149	25532	OMIM:613672	Spastic ataxia 4, autosomal recessive	.	19
HP:0001347	HP:0001347	Hyperreflexia	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0001347	HP:0001347	Hyperreflexia	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0001347	HP:0001347	Hyperreflexia	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0001347	HP:0001347	Hyperreflexia	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0001347	HP:0001347	Hyperreflexia	0	MYORG CL E G H	57462	19918	OMIM:618317	Basal ganglia calcification, idiopathic, 7, autosomal recessive	.
HP:0001347	HP:0001347	Hyperreflexia	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001347	HP:0001347	Hyperreflexia	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001347	HP:0001347	Hyperreflexia	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.	47
HP:0001347	HP:0001347	Hyperreflexia	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0001347	HP:0001347	Hyperreflexia	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001347	HP:0001347	Hyperreflexia	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001347	HP:0001347	Hyperreflexia	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0001347	HP:0001347	Hyperreflexia	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0001347	HP:0001347	Hyperreflexia	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4		96
HP:0001347	HP:0001347	Hyperreflexia	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0001347	HP:0001347	Hyperreflexia	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	.	31
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.	50
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	.	81
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.	65
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.	27
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.	38
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.	42
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0001347	HP:0001347	Hyperreflexia	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0001347	HP:0001347	Hyperreflexia	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0001347	HP:0001347	Hyperreflexia	0	NEK1 CL E G H	4750	7744	OMIM:617892	Amyotrophic lateral sclerosis, susceptibility to, 24	.	101
HP:0001347	HP:0001347	Hyperreflexia	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	5
HP:0001347	HP:0001347	Hyperreflexia	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0001347	HP:0001347	Hyperreflexia	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0001347	HP:0001347	Hyperreflexia	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0001347	HP:0001347	Hyperreflexia	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0001347	HP:0001347	Hyperreflexia	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0001347	HP:0001347	Hyperreflexia	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	2
HP:0001347	HP:0001347	Hyperreflexia	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0001347	HP:0001347	Hyperreflexia	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0001347	HP:0001347	Hyperreflexia	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0001347	HP:0001347	Hyperreflexia	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040283 - Occasional	9
HP:0001347	HP:0001347	Hyperreflexia	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:2289	Neuronal intranuclear inclusion disease	HP:0040282 - Frequent
HP:0001347	HP:0001347	Hyperreflexia	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	58
HP:0001347	HP:0001347	Hyperreflexia	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		27
HP:0001347	HP:0001347	Hyperreflexia	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0001347	HP:0001347	Hyperreflexia	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0001347	HP:0001347	Hyperreflexia	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	30
HP:0001347	HP:0001347	Hyperreflexia	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1	.	544
HP:0001347	HP:0001347	Hyperreflexia	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0001347	HP:0001347	Hyperreflexia	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0001347	HP:0001347	Hyperreflexia	0	NT5C2 CL E G H	22978	8022	ORPHA:320396	Autosomal recessive spastic paraplegia type 45	HP:0040282 - Frequent	15
HP:0001347	HP:0001347	Hyperreflexia	0	NT5C2 CL E G H	22978	8022	OMIM:613162	Spastic paraplegia 45, autosomal recessive	.	15
HP:0001347	HP:0001347	Hyperreflexia	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58		8
HP:0001347	HP:0001347	Hyperreflexia	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21	.	89
HP:0001347	HP:0001347	Hyperreflexia	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040282 - Frequent	7
HP:0001347	HP:0001347	Hyperreflexia	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		121
HP:0001347	HP:0001347	Hyperreflexia	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0001347	HP:0001347	Hyperreflexia	0	OCLN CL E G H	100506658	8104	ORPHA:1229	Congenital intrauterine infection-like syndrome	HP:0040281 - Very frequent	23
HP:0001347	HP:0001347	Hyperreflexia	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0001347	HP:0001347	Hyperreflexia	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	201
HP:0001347	HP:0001347	Hyperreflexia	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2		201
HP:0001347	HP:0001347	Hyperreflexia	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.	214
HP:0001347	HP:0001347	Hyperreflexia	0	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.	163
HP:0001347	HP:0001347	Hyperreflexia	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0001347	HP:0001347	Hyperreflexia	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040283 - Occasional	641
HP:0001347	HP:0001347	Hyperreflexia	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0001347	HP:0001347	Hyperreflexia	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0001347	HP:0001347	Hyperreflexia	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0001347	HP:0001347	Hyperreflexia	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0001347	HP:0001347	Hyperreflexia	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0001347	HP:0001347	Hyperreflexia	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0001347	HP:0001347	Hyperreflexia	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	23
HP:0001347	HP:0001347	Hyperreflexia	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	.	14
HP:0001347	HP:0001347	Hyperreflexia	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0001347	HP:0001347	Hyperreflexia	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency		118
HP:0001347	HP:0001347	Hyperreflexia	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0001347	HP:0001347	Hyperreflexia	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0001347	HP:0001347	Hyperreflexia	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0001347	HP:0001347	Hyperreflexia	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	116
HP:0001347	HP:0001347	Hyperreflexia	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	126
HP:0001347	HP:0001347	Hyperreflexia	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	18
HP:0001347	HP:0001347	Hyperreflexia	0	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant		75
HP:0001347	HP:0001347	Hyperreflexia	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0001347	HP:0001347	Hyperreflexia	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0001347	HP:0001347	Hyperreflexia	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0001347	HP:0001347	Hyperreflexia	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	.	52
HP:0001347	HP:0001347	Hyperreflexia	0	PDYN CL E G H	5173	8820	ORPHA:101108	Spinocerebellar ataxia type 23	HP:0040281 - Very frequent	52
HP:0001347	HP:0001347	Hyperreflexia	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0001347	HP:0001347	Hyperreflexia	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001347	HP:0001347	Hyperreflexia	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	169
HP:0001347	HP:0001347	Hyperreflexia	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040283 - Occasional	75
HP:0001347	HP:0001347	Hyperreflexia	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	75
HP:0001347	HP:0001347	Hyperreflexia	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	4
HP:0001347	HP:0001347	Hyperreflexia	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	65
HP:0001347	HP:0001347	Hyperreflexia	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	66
HP:0001347	HP:0001347	Hyperreflexia	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	46
HP:0001347	HP:0001347	Hyperreflexia	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	59
HP:0001347	HP:0001347	Hyperreflexia	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0001347	HP:0001347	Hyperreflexia	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	62
HP:0001347	HP:0001347	Hyperreflexia	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0001347	HP:0001347	Hyperreflexia	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	82
HP:0001347	HP:0001347	Hyperreflexia	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	106
HP:0001347	HP:0001347	Hyperreflexia	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	47
HP:0001347	HP:0001347	Hyperreflexia	0	PEX3 CL E G H	8504	8858	OMIM:617370	Peroxisome biogenesis disorder 10B	.	47
HP:0001347	HP:0001347	Hyperreflexia	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	99
HP:0001347	HP:0001347	Hyperreflexia	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent	98
HP:0001347	HP:0001347	Hyperreflexia	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0001347	HP:0001347	Hyperreflexia	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0001347	HP:0001347	Hyperreflexia	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001347	HP:0001347	Hyperreflexia	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	16
HP:0001347	HP:0001347	Hyperreflexia	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	11
HP:0001347	HP:0001347	Hyperreflexia	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0001347	HP:0001347	Hyperreflexia	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0001347	HP:0001347	Hyperreflexia	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0001347	HP:0001347	Hyperreflexia	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0001347	HP:0001347	Hyperreflexia	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	HP:0040282 - Frequent	37
HP:0001347	HP:0001347	Hyperreflexia	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0001347	HP:0001347	Hyperreflexia	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0001347	HP:0001347	Hyperreflexia	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset	.	55
HP:0001347	HP:0001347	Hyperreflexia	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	55
HP:0001347	HP:0001347	Hyperreflexia	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0001347	HP:0001347	Hyperreflexia	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001347	HP:0001347	Hyperreflexia	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0001347	HP:0001347	Hyperreflexia	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0001347	HP:0001347	Hyperreflexia	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.	133
HP:0001347	HP:0001347	Hyperreflexia	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0001347	HP:0001347	Hyperreflexia	0	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12	.	119
HP:0001347	HP:0001347	Hyperreflexia	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0001347	HP:0001347	Hyperreflexia	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.	60
HP:0001347	HP:0001347	Hyperreflexia	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040281 - Very frequent	60
HP:0001347	HP:0001347	Hyperreflexia	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0001347	HP:0001347	Hyperreflexia	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001347	HP:0001347	Hyperreflexia	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A		79
HP:0001347	HP:0001347	Hyperreflexia	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3		7
HP:0001347	HP:0001347	Hyperreflexia	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0001347	HP:0001347	Hyperreflexia	0	PNPLA6 CL E G H	10908	16268	ORPHA:139480	Autosomal recessive spastic paraplegia type 39	HP:0040282 - Frequent	103
HP:0001347	HP:0001347	Hyperreflexia	0	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive	.	103
HP:0001347	HP:0001347	Hyperreflexia	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0001347	HP:0001347	Hyperreflexia	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	138
HP:0001347	HP:0001347	Hyperreflexia	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0001347	HP:0001347	Hyperreflexia	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0001347	HP:0001347	Hyperreflexia	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism	.	67
HP:0001347	HP:0001347	Hyperreflexia	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.	67
HP:0001347	HP:0001347	Hyperreflexia	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0001347	HP:0001347	Hyperreflexia	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	180
HP:0001347	HP:0001347	Hyperreflexia	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0001347	HP:0001347	Hyperreflexia	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0001347	HP:0001347	Hyperreflexia	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0001347	HP:0001347	Hyperreflexia	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0001347	HP:0001347	Hyperreflexia	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0001347	HP:0001347	Hyperreflexia	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001347	HP:0001347	Hyperreflexia	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional	41
HP:0001347	HP:0001347	Hyperreflexia	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0001347	HP:0001347	Hyperreflexia	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		2
HP:0001347	HP:0001347	Hyperreflexia	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0001347	HP:0001347	Hyperreflexia	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040282 - Frequent	5
HP:0001347	HP:0001347	Hyperreflexia	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.	28
HP:0001347	HP:0001347	Hyperreflexia	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	39
HP:0001347	HP:0001347	Hyperreflexia	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH		2
HP:0001347	HP:0001347	Hyperreflexia	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040282 - Frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10	.	1
HP:0001347	HP:0001347	Hyperreflexia	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0001347	HP:0001347	Hyperreflexia	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2	.	138
HP:0001347	HP:0001347	Hyperreflexia	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	138
HP:0001347	HP:0001347	Hyperreflexia	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0001347	HP:0001347	Hyperreflexia	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent	37
HP:0001347	HP:0001347	Hyperreflexia	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0001347	HP:0001347	Hyperreflexia	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1		69
HP:0001347	HP:0001347	Hyperreflexia	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	110
HP:0001347	HP:0001347	Hyperreflexia	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	28
HP:0001347	HP:0001347	Hyperreflexia	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	70
HP:0001347	HP:0001347	Hyperreflexia	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	2
HP:0001347	HP:0001347	Hyperreflexia	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	51
HP:0001347	HP:0001347	Hyperreflexia	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	94
HP:0001347	HP:0001347	Hyperreflexia	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0001347	HP:0001347	Hyperreflexia	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	159
HP:0001347	HP:0001347	Hyperreflexia	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	HP:0040283 - Occasional	49
HP:0001347	HP:0001347	Hyperreflexia	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0001347	HP:0001347	Hyperreflexia	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001347	HP:0001347	Hyperreflexia	0	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia		94
HP:0001347	HP:0001347	Hyperreflexia	0	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1		73
HP:0001347	HP:0001347	Hyperreflexia	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0001347	HP:0001347	Hyperreflexia	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0001347	HP:0001347	Hyperreflexia	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0001347	HP:0001347	Hyperreflexia	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0001347	HP:0001347	Hyperreflexia	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency	.	81
HP:0001347	HP:0001347	Hyperreflexia	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040282 - Frequent	27
HP:0001347	HP:0001347	Hyperreflexia	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3		241
HP:0001347	HP:0001347	Hyperreflexia	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	241
HP:0001347	HP:0001347	Hyperreflexia	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0001347	HP:0001347	Hyperreflexia	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0001347	HP:0001347	Hyperreflexia	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0001347	HP:0001347	Hyperreflexia	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	11
HP:0001347	HP:0001347	Hyperreflexia	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0001347	HP:0001347	Hyperreflexia	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0001347	HP:0001347	Hyperreflexia	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0001347	HP:0001347	Hyperreflexia	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0001347	HP:0001347	Hyperreflexia	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.	90
HP:0001347	HP:0001347	Hyperreflexia	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0001347	HP:0001347	Hyperreflexia	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0001347	HP:0001347	Hyperreflexia	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0001347	HP:0001347	Hyperreflexia	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9	.
HP:0001347	HP:0001347	Hyperreflexia	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0001347	HP:0001347	Hyperreflexia	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0001347	HP:0001347	Hyperreflexia	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	108
HP:0001347	HP:0001347	Hyperreflexia	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	45
HP:0001347	HP:0001347	Hyperreflexia	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31		87
HP:0001347	HP:0001347	Hyperreflexia	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040283 - Occasional	87
HP:0001347	HP:0001347	Hyperreflexia	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0001347	HP:0001347	Hyperreflexia	0	REEP2 CL E G H	51308	17975	OMIM:615625	Spastic paraplegia 72, autosomal recessive	.	3
HP:0001347	HP:0001347	Hyperreflexia	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	5
HP:0001347	HP:0001347	Hyperreflexia	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.	92
HP:0001347	HP:0001347	Hyperreflexia	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	28
HP:0001347	HP:0001347	Hyperreflexia	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	107
HP:0001347	HP:0001347	Hyperreflexia	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	47
HP:0001347	HP:0001347	Hyperreflexia	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0001347	HP:0001347	Hyperreflexia	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	HP:0040283 - Occasional	3
HP:0001347	HP:0001347	Hyperreflexia	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.	60
HP:0001347	HP:0001347	Hyperreflexia	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001347	HP:0001347	Hyperreflexia	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0001347	HP:0001347	Hyperreflexia	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001347	HP:0001347	Hyperreflexia	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23		1
HP:0001347	HP:0001347	Hyperreflexia	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	38
HP:0001347	HP:0001347	Hyperreflexia	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	111
HP:0001347	HP:0001347	Hyperreflexia	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	284
HP:0001347	HP:0001347	Hyperreflexia	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	45
HP:0001347	HP:0001347	Hyperreflexia	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	14
HP:0001347	HP:0001347	Hyperreflexia	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	129
HP:0001347	HP:0001347	Hyperreflexia	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	200
HP:0001347	HP:0001347	Hyperreflexia	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	167
HP:0001347	HP:0001347	Hyperreflexia	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent	25
HP:0001347	HP:0001347	Hyperreflexia	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0001347	HP:0001347	Hyperreflexia	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0001347	HP:0001347	Hyperreflexia	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0001347	HP:0001347	Hyperreflexia	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.	309
HP:0001347	HP:0001347	Hyperreflexia	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	32
HP:0001347	HP:0001347	Hyperreflexia	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent	4
HP:0001347	HP:0001347	Hyperreflexia	0	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001347	HP:0001347	Hyperreflexia	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49		4
HP:0001347	HP:0001347	Hyperreflexia	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	4
HP:0001347	HP:0001347	Hyperreflexia	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0001347	HP:0001347	Hyperreflexia	0	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:0001347	HP:0001347	Hyperreflexia	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	HP:0040283 - Occasional	5
HP:0001347	HP:0001347	Hyperreflexia	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0001347	HP:0001347	Hyperreflexia	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0001347	HP:0001347	Hyperreflexia	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0001347	HP:0001347	Hyperreflexia	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0001347	HP:0001347	Hyperreflexia	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0001347	HP:0001347	Hyperreflexia	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0001347	HP:0001347	Hyperreflexia	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0001347	HP:0001347	Hyperreflexia	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001347	HP:0001347	Hyperreflexia	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001347	HP:0001347	Hyperreflexia	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0001347	HP:0001347	Hyperreflexia	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	48
HP:0001347	HP:0001347	Hyperreflexia	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001347	HP:0001347	Hyperreflexia	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D		66
HP:0001347	HP:0001347	Hyperreflexia	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001347	HP:0001347	Hyperreflexia	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.	162
HP:0001347	HP:0001347	Hyperreflexia	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001347	HP:0001347	Hyperreflexia	0	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.	6
HP:0001347	HP:0001347	Hyperreflexia	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0001347	HP:0001347	Hyperreflexia	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent	11
HP:0001347	HP:0001347	Hyperreflexia	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0001347	HP:0001347	Hyperreflexia	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0001347	HP:0001347	Hyperreflexia	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent	57
HP:0001347	HP:0001347	Hyperreflexia	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0001347	HP:0001347	Hyperreflexia	0	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:0001347	HP:0001347	Hyperreflexia	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0001347	HP:0001347	Hyperreflexia	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0001347	HP:0001347	Hyperreflexia	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.	4
HP:0001347	HP:0001347	Hyperreflexia	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040281 - Very frequent	4
HP:0001347	HP:0001347	Hyperreflexia	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0001347	HP:0001347	Hyperreflexia	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.	44
HP:0001347	HP:0001347	Hyperreflexia	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040281 - Very frequent	88
HP:0001347	HP:0001347	Hyperreflexia	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0001347	HP:0001347	Hyperreflexia	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001347	HP:0001347	Hyperreflexia	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040282 - Frequent	166
HP:0001347	HP:0001347	Hyperreflexia	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14
HP:0001347	HP:0001347	Hyperreflexia	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0001347	HP:0001347	Hyperreflexia	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0001347	HP:0001347	Hyperreflexia	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome		255
HP:0001347	HP:0001347	Hyperreflexia	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.	255
HP:0001347	HP:0001347	Hyperreflexia	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0001347	HP:0001347	Hyperreflexia	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040282 - Frequent	255
HP:0001347	HP:0001347	Hyperreflexia	0	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia		255
HP:0001347	HP:0001347	Hyperreflexia	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.	255
HP:0001347	HP:0001347	Hyperreflexia	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040281 - Very frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040281 - Very frequent	48
HP:0001347	HP:0001347	Hyperreflexia	0	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant		48
HP:0001347	HP:0001347	Hyperreflexia	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0001347	HP:0001347	Hyperreflexia	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001347	HP:0001347	Hyperreflexia	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0001347	HP:0001347	Hyperreflexia	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0001347	HP:0001347	Hyperreflexia	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN		11
HP:0001347	HP:0001347	Hyperreflexia	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0001347	HP:0001347	Hyperreflexia	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0001347	HP:0001347	Hyperreflexia	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040283 - Occasional	101
HP:0001347	HP:0001347	Hyperreflexia	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0001347	HP:0001347	Hyperreflexia	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood		51
HP:0001347	HP:0001347	Hyperreflexia	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040281 - Very frequent	12
HP:0001347	HP:0001347	Hyperreflexia	0	SLC6A19 CL E G H	340024	27960	OMIM:234500	Hartnup disorder	.	12
HP:0001347	HP:0001347	Hyperreflexia	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	81
HP:0001347	HP:0001347	Hyperreflexia	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3		81
HP:0001347	HP:0001347	Hyperreflexia	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0001347	HP:0001347	Hyperreflexia	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	4
HP:0001347	HP:0001347	Hyperreflexia	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0001347	HP:0001347	Hyperreflexia	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0001347	HP:0001347	Hyperreflexia	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0001347	HP:0001347	Hyperreflexia	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0001347	HP:0001347	Hyperreflexia	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0001347	HP:0001347	Hyperreflexia	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	83
HP:0001347	HP:0001347	Hyperreflexia	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0001347	HP:0001347	Hyperreflexia	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0001347	HP:0001347	Hyperreflexia	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0001347	HP:0001347	Hyperreflexia	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0001347	HP:0001347	Hyperreflexia	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent	66
HP:0001347	HP:0001347	Hyperreflexia	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0001347	HP:0001347	Hyperreflexia	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0001347	HP:0001347	Hyperreflexia	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.	208
HP:0001347	HP:0001347	Hyperreflexia	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	48
HP:0001347	HP:0001347	Hyperreflexia	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0001347	HP:0001347	Hyperreflexia	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11		287
HP:0001347	HP:0001347	Hyperreflexia	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0001347	HP:0001347	Hyperreflexia	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0001347	HP:0001347	Hyperreflexia	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent	28
HP:0001347	HP:0001347	Hyperreflexia	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.	28
HP:0001347	HP:0001347	Hyperreflexia	0	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis		171
HP:0001347	HP:0001347	Hyperreflexia	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0001347	HP:0001347	Hyperreflexia	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0001347	HP:0001347	Hyperreflexia	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent	28
HP:0001347	HP:0001347	Hyperreflexia	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.	416
HP:0001347	HP:0001347	Hyperreflexia	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001347	HP:0001347	Hyperreflexia	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	126
HP:0001347	HP:0001347	Hyperreflexia	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0001347	HP:0001347	Hyperreflexia	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14	HP:0040283 - Occasional	126
HP:0001347	HP:0001347	Hyperreflexia	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0001347	HP:0001347	Hyperreflexia	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0001347	HP:0001347	Hyperreflexia	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	62
HP:0001347	HP:0001347	Hyperreflexia	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0001347	HP:0001347	Hyperreflexia	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.	62
HP:0001347	HP:0001347	Hyperreflexia	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	50
HP:0001347	HP:0001347	Hyperreflexia	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome		47
HP:0001347	HP:0001347	Hyperreflexia	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001347	HP:0001347	Hyperreflexia	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	99
HP:0001347	HP:0001347	Hyperreflexia	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040282 - Frequent	14
HP:0001347	HP:0001347	Hyperreflexia	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0001347	HP:0001347	Hyperreflexia	0	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16		14
HP:0001347	HP:0001347	Hyperreflexia	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency		80
HP:0001347	HP:0001347	Hyperreflexia	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0001347	HP:0001347	Hyperreflexia	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0001347	HP:0001347	Hyperreflexia	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040282 - Frequent	1129
HP:0001347	HP:0001347	Hyperreflexia	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	9
HP:0001347	HP:0001347	Hyperreflexia	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0001347	HP:0001347	Hyperreflexia	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:0001347	HP:0001347	Hyperreflexia	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	2
HP:0001347	HP:0001347	Hyperreflexia	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.	7
HP:0001347	HP:0001347	Hyperreflexia	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent	7
HP:0001347	HP:0001347	Hyperreflexia	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0001347	HP:0001347	Hyperreflexia	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0001347	HP:0001347	Hyperreflexia	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001347	HP:0001347	Hyperreflexia	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0001347	HP:0001347	Hyperreflexia	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0001347	HP:0001347	Hyperreflexia	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	20
HP:0001347	HP:0001347	Hyperreflexia	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0001347	HP:0001347	Hyperreflexia	0	TCTN2 CL E G H	79867	25774	OMIM:616654	Joubert syndrome 24	.	76
HP:0001347	HP:0001347	Hyperreflexia	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.	18
HP:0001347	HP:0001347	Hyperreflexia	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.	58
HP:0001347	HP:0001347	Hyperreflexia	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040282 - Frequent	58
HP:0001347	HP:0001347	Hyperreflexia	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia		80
HP:0001347	HP:0001347	Hyperreflexia	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	6
HP:0001347	HP:0001347	Hyperreflexia	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040283 - Occasional	1
HP:0001347	HP:0001347	Hyperreflexia	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	HP:0040284 - Very rare	1
HP:0001347	HP:0001347	Hyperreflexia	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0001347	HP:0001347	Hyperreflexia	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.	15
HP:0001347	HP:0001347	Hyperreflexia	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	3
HP:0001347	HP:0001347	Hyperreflexia	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0001347	HP:0001347	Hyperreflexia	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16	.
HP:0001347	HP:0001347	Hyperreflexia	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0001347	HP:0001347	Hyperreflexia	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0001347	HP:0001347	Hyperreflexia	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	166
HP:0001347	HP:0001347	Hyperreflexia	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0001347	HP:0001347	Hyperreflexia	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0001347	HP:0001347	Hyperreflexia	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional	6
HP:0001347	HP:0001347	Hyperreflexia	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0001347	HP:0001347	Hyperreflexia	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	61
HP:0001347	HP:0001347	Hyperreflexia	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0001347	HP:0001347	Hyperreflexia	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent	203
HP:0001347	HP:0001347	Hyperreflexia	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0001347	HP:0001347	Hyperreflexia	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	2
HP:0001347	HP:0001347	Hyperreflexia	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0001347	HP:0001347	Hyperreflexia	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	27
HP:0001347	HP:0001347	Hyperreflexia	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0001347	HP:0001347	Hyperreflexia	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0001347	HP:0001347	Hyperreflexia	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	31
HP:0001347	HP:0001347	Hyperreflexia	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0001347	HP:0001347	Hyperreflexia	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0001347	HP:0001347	Hyperreflexia	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome		7
HP:0001347	HP:0001347	Hyperreflexia	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.	4
HP:0001347	HP:0001347	Hyperreflexia	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0001347	HP:0001347	Hyperreflexia	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001347	HP:0001347	Hyperreflexia	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001347	HP:0001347	Hyperreflexia	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001347	HP:0001347	Hyperreflexia	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001347	HP:0001347	Hyperreflexia	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001347	HP:0001347	Hyperreflexia	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001347	HP:0001347	Hyperreflexia	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0001347	HP:0001347	Hyperreflexia	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	HP:0040283 - Occasional	3
HP:0001347	HP:0001347	Hyperreflexia	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0001347	HP:0001347	Hyperreflexia	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia		2
HP:0001347	HP:0001347	Hyperreflexia	0	TTBK2 CL E G H	146057	19141	OMIM:604432	Spinocerebellar ataxia 11	.	57
HP:0001347	HP:0001347	Hyperreflexia	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	HP:0040283 - Occasional	88
HP:0001347	HP:0001347	Hyperreflexia	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	41
HP:0001347	HP:0001347	Hyperreflexia	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	1
HP:0001347	HP:0001347	Hyperreflexia	0	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent	39
HP:0001347	HP:0001347	Hyperreflexia	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0001347	HP:0001347	Hyperreflexia	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	66
HP:0001347	HP:0001347	Hyperreflexia	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001347	HP:0001347	Hyperreflexia	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant	.
HP:0001347	HP:0001347	Hyperreflexia	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0001347	HP:0001347	Hyperreflexia	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0001347	HP:0001347	Hyperreflexia	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation		278
HP:0001347	HP:0001347	Hyperreflexia	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion		278
HP:0001347	HP:0001347	Hyperreflexia	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15		278
HP:0001347	HP:0001347	Hyperreflexia	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0001347	HP:0001347	Hyperreflexia	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	21
HP:0001347	HP:0001347	Hyperreflexia	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0001347	HP:0001347	Hyperreflexia	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0001347	HP:0001347	Hyperreflexia	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0001347	HP:0001347	Hyperreflexia	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional	5
HP:0001347	HP:0001347	Hyperreflexia	0	UQCRQ CL E G H	27089	29594	OMIM:615159	Mitochondrial complex III deficiency, nuclear type 4	.	34
HP:0001347	HP:0001347	Hyperreflexia	0	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria		8
HP:0001347	HP:0001347	Hyperreflexia	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	777
HP:0001347	HP:0001347	Hyperreflexia	0	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59		7
HP:0001347	HP:0001347	Hyperreflexia	0	VAC14 CL E G H	55697	25507	OMIM:617054	Striatonigral degeneration, childhood-onset	.	6
HP:0001347	HP:0001347	Hyperreflexia	0	VAMP1 CL E G H	6843	12642	ORPHA:251282	Autosomal dominant spastic ataxia type 1	HP:0040281 - Very frequent	2
HP:0001347	HP:0001347	Hyperreflexia	0	VAMP1 CL E G H	6843	12642	OMIM:108600	Spastic ataxia 1, autosomal dominant	.	2
HP:0001347	HP:0001347	Hyperreflexia	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0001347	HP:0001347	Hyperreflexia	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	63
HP:0001347	HP:0001347	Hyperreflexia	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0001347	HP:0001347	Hyperreflexia	0	VLDLR CL E G H	7436	12698	OMIM:224050	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	.	111
HP:0001347	HP:0001347	Hyperreflexia	0	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent	111
HP:0001347	HP:0001347	Hyperreflexia	0	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32		1
HP:0001347	HP:0001347	Hyperreflexia	0	VPS13C CL E G H	54832	23594	OMIM:616840	Parkinson disease 23, autosomal recessive early-onset	HP:0040283 - Occasional	8
HP:0001347	HP:0001347	Hyperreflexia	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0001347	HP:0001347	Hyperreflexia	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0001347	HP:0001347	Hyperreflexia	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53		7
HP:0001347	HP:0001347	Hyperreflexia	0	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0001347	HP:0001347	Hyperreflexia	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001347	HP:0001347	Hyperreflexia	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0001347	HP:0001347	Hyperreflexia	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32
HP:0001347	HP:0001347	Hyperreflexia	0	VWA3B CL E G H	200403	28385	OMIM:616948	Spinocerebellar ataxia, autosomal recessive 22		1
HP:0001347	HP:0001347	Hyperreflexia	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:0001347	HP:0001347	Hyperreflexia	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent	2
HP:0001347	HP:0001347	Hyperreflexia	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040281 - Very frequent	83
HP:0001347	HP:0001347	Hyperreflexia	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.	83
HP:0001347	HP:0001347	Hyperreflexia	0	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations	.
HP:0001347	HP:0001347	Hyperreflexia	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	224
HP:0001347	HP:0001347	Hyperreflexia	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.	224
HP:0001347	HP:0001347	Hyperreflexia	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0001347	HP:0001347	Hyperreflexia	0	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome	HP:0040281 - Very frequent	27
HP:0001347	HP:0001347	Hyperreflexia	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001347	HP:0001347	Hyperreflexia	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	.	149
HP:0001347	HP:0001347	Hyperreflexia	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0001347	HP:0001347	Hyperreflexia	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0001347	HP:0001347	Hyperreflexia	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0001347	HP:0001347	Hyperreflexia	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0001347	HP:0001347	Hyperreflexia	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0001347	HP:0001347	Hyperreflexia	0	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52
HP:0001347	HP:0001347	Hyperreflexia	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	14
HP:0001347	HP:0001347	Hyperreflexia	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040283 - Occasional	27
HP:0001347	HP:0001347	Hyperreflexia	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1
HP:0001347	HP:0001347	Hyperreflexia	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0001347	HP:0002169	Clonus	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001347	HP:0001348	Brisk reflexes	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0001347	HP:0002169	Clonus	1	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia	.	35
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0001347	HP:0007054	Proximal hyperreflexia	1	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0001347	HP:0007034	Generalized hyperreflexia	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0001347	HP:0002169	Clonus	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0001347	HP:0002169	Clonus	1	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0001347	HP:0001348	Brisk reflexes	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	AFG3L2 CL E G H	10939	315	OMIM:610246	Spinocerebellar ataxia 28	.	86
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040281 - Very frequent	86
HP:0001347	HP:0001348	Brisk reflexes	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0001347	HP:0007054	Proximal hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040281 - Very frequent	89
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0001347	HP:0007054	Proximal hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040281 - Very frequent	89
HP:0001347	HP:0007054	Proximal hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0001347	HP:0001348	Brisk reflexes	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	.	89
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0001347	HP:0002169	Clonus	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0001347	HP:0002169	Clonus	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0001347	HP:0001348	Brisk reflexes	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	114
HP:0001347	HP:0002169	Clonus	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0001347	HP:0002169	Clonus	1	AMPD2 CL E G H	271	469	OMIM:615686	Spastic paraplegia 63, autosomal recessive		21
HP:0001347	HP:0001348	Brisk reflexes	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0001347	HP:0002169	Clonus	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.	39
HP:0001347	HP:0007054	Proximal hyperreflexia	1	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61		1
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61		1
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0001347	HP:0007054	Proximal hyperreflexia	1	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive		1
HP:0001347	HP:0001348	Brisk reflexes	1	ATG5 CL E G H	9474	589	OMIM:617584	Spinocerebellar ataxia, autosomal recessive 25		1
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040281 - Very frequent	71
HP:0001347	HP:0002169	Clonus	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3		71
HP:0001347	HP:0007054	Proximal hyperreflexia	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent	100
HP:0001347	HP:0001348	Brisk reflexes	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040282 - Frequent	36
HP:0001347	HP:0002169	Clonus	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional	19
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040283 - Occasional	11
HP:0001347	HP:0001348	Brisk reflexes	1	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040283 - Occasional	1
HP:0001347	HP:0002169	Clonus	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0001347	HP:0001348	Brisk reflexes	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent	105
HP:0001347	HP:0007054	Proximal hyperreflexia	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43		114
HP:0001347	HP:0001348	Brisk reflexes	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent	114
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040282 - Frequent	114
HP:0001347	HP:0001348	Brisk reflexes	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001347	HP:0001348	Brisk reflexes	1	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare	34
HP:0001347	HP:0002169	Clonus	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76		4
HP:0001347	HP:0007054	Proximal hyperreflexia	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76		4
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040281 - Very frequent	4
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0001347	HP:0007054	Proximal hyperreflexia	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0001347	HP:0002169	Clonus	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001347	HP:0001348	Brisk reflexes	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001347	HP:0007034	Generalized hyperreflexia	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001347	HP:0002169	Clonus	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.	11
HP:0001347	HP:0002169	Clonus	1	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	HP:0040282 - Frequent	56
HP:0001347	HP:0002169	Clonus	1	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive	.	56
HP:0001347	HP:0002169	Clonus	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001347	HP:0001348	Brisk reflexes	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001347	HP:0001348	Brisk reflexes	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	CLDN11 CL E G H	5010	8514	OMIM:619328	Leukodystrophy, hypomyelinating, 22
HP:0001347	HP:0001348	Brisk reflexes	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0001347	HP:0001348	Brisk reflexes	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0001347	HP:0001348	Brisk reflexes	1	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001347	HP:0001348	Brisk reflexes	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040282 - Frequent	136
HP:0001347	HP:0001348	Brisk reflexes	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001347	HP:0007054	Proximal hyperreflexia	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001347	HP:0001348	Brisk reflexes	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001347	HP:0002169	Clonus	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	CYP2U1 CL E G H	113612	20582	ORPHA:320411	Autosomal recessive spastic paraplegia type 56	HP:0040281 - Very frequent	18
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive	.	18
HP:0001347	HP:0007054	Proximal hyperreflexia	1	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0001347	HP:0002169	Clonus	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A		57
HP:0001347	HP:0001348	Brisk reflexes	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0001347	HP:0001348	Brisk reflexes	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040283 - Occasional	94
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0001347	HP:0002169	Clonus	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001347	HP:0007034	Generalized hyperreflexia	1	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040283 - Occasional	4
HP:0001347	HP:0001348	Brisk reflexes	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0001347	HP:0001348	Brisk reflexes	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001347	HP:0002169	Clonus	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0001347	HP:0001348	Brisk reflexes	1	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4		20
HP:0001347	HP:0007034	Generalized hyperreflexia	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0001347	HP:0007034	Generalized hyperreflexia	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0001347	HP:0002169	Clonus	1	ERLIN1 CL E G H	10613	16947	ORPHA:401785	Autosomal recessive spastic paraplegia type 62	HP:0040283 - Occasional	2
HP:0001347	HP:0002169	Clonus	1	ERLIN1 CL E G H	10613	16947	OMIM:615681	Spastic paraplegia 62, autosomal recessive	.	2
HP:0001347	HP:0007054	Proximal hyperreflexia	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0001347	HP:0002169	Clonus	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0001347	HP:0007054	Proximal hyperreflexia	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0001347	HP:0002169	Clonus	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0001347	HP:0001348	Brisk reflexes	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001347	HP:0002169	Clonus	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0001347	HP:0002169	Clonus	1	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive		76
HP:0001347	HP:0007054	Proximal hyperreflexia	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040281 - Very frequent	7
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040282 - Frequent	36
HP:0001347	HP:0001348	Brisk reflexes	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0001347	HP:0002169	Clonus	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0001347	HP:0002169	Clonus	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0001347	HP:0007054	Proximal hyperreflexia	1	FLRT1 CL E G H	23769	3760	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent
HP:0001347	HP:0001348	Brisk reflexes	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional	33
HP:0001347	HP:0007054	Proximal hyperreflexia	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional	33
HP:0001347	HP:0001348	Brisk reflexes	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS		43
HP:0001347	HP:0001348	Brisk reflexes	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0001347	HP:0002169	Clonus	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent	160
HP:0001347	HP:0002169	Clonus	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.	160
HP:0001347	HP:0001348	Brisk reflexes	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040282 - Frequent	30
HP:0001347	HP:0002169	Clonus	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0001347	HP:0001348	Brisk reflexes	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	86
HP:0001347	HP:0033683	Jaw hyperreflexia	1	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0001347	HP:0001348	Brisk reflexes	1	GEMIN5 CL E G H	25929	20043	OMIM:619333	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001347	HP:0002169	Clonus	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	HP:0040283 - Occasional	107
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040283 - Occasional	107
HP:0001347	HP:0001348	Brisk reflexes	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0001347	HP:0001348	Brisk reflexes	1	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0001347	HP:0002169	Clonus	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0001347	HP:0001348	Brisk reflexes	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID		69
HP:0001347	HP:0001348	Brisk reflexes	1	GRM1 CL E G H	2911	4593	OMIM:617691	SPINOCEREBELLAR ATAXIA 44; SCA44		8
HP:0001347	HP:0007034	Generalized hyperreflexia	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0001347	HP:0007034	Generalized hyperreflexia	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001347	HP:0001348	Brisk reflexes	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0001347	HP:0001348	Brisk reflexes	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0001347	HP:0001348	Brisk reflexes	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040282 - Frequent
HP:0001347	HP:0007054	Proximal hyperreflexia	1	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001347	HP:0007054	Proximal hyperreflexia	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0001347	HP:0002169	Clonus	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	.	3
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	HPDL CL E G H	84842	28242	OMIM:619027	SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0001347	HP:0007054	Proximal hyperreflexia	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13		46
HP:0001347	HP:0002169	Clonus	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001347	HP:0002169	Clonus	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040283 - Occasional	12
HP:0001347	HP:0002169	Clonus	1	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome		12
HP:0001347	HP:0007054	Proximal hyperreflexia	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0001347	HP:0001348	Brisk reflexes	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040282 - Frequent	1
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0001347	HP:0001348	Brisk reflexes	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	1
HP:0001347	HP:0001348	Brisk reflexes	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional	17
HP:0001347	HP:0002169	Clonus	1	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent	528
HP:0001347	HP:0002169	Clonus	1	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent	302
HP:0001347	HP:0002169	Clonus	1	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0001347	HP:0002169	Clonus	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.	81
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	KIF1A CL E G H	547	888	ORPHA:101010	Autosomal spastic paraplegia type 30	HP:0040281 - Very frequent	276
HP:0001347	HP:0002169	Clonus	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive		276
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040281 - Very frequent	38
HP:0001347	HP:0002169	Clonus	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent	38
HP:0001347	HP:0002169	Clonus	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0001347	HP:0007054	Proximal hyperreflexia	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10		93
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040281 - Very frequent	93
HP:0001347	HP:0002169	Clonus	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant		93
HP:0001347	HP:0007054	Proximal hyperreflexia	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy	.	1
HP:0001347	HP:0002169	Clonus	1	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0001347	HP:0007054	Proximal hyperreflexia	1	KLC2 CL E G H	64837	20716	ORPHA:320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	HP:0040282 - Frequent	1
HP:0001347	HP:0002169	Clonus	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0001347	HP:0007054	Proximal hyperreflexia	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent	3
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly		70
HP:0001347	HP:0001348	Brisk reflexes	1	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0001347	HP:0002169	Clonus	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0001347	HP:0001348	Brisk reflexes	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.	10
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040281 - Very frequent	950
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent	950
HP:0001347	HP:0002169	Clonus	1	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.	23
HP:0001347	HP:0002169	Clonus	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	MKS1 CL E G H	54903	7121	OMIM:617121	JOUBERT SYNDROME 28; JBTS28		127
HP:0001347	HP:0007034	Generalized hyperreflexia	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional	532
HP:0001347	HP:0001348	Brisk reflexes	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001347	HP:0001348	Brisk reflexes	1	MSTN CL E G H	2660	4223	OMIM:614160	MUSCLE HYPERTROPHY; MSLHP		34
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0001347	HP:0002169	Clonus	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0001347	HP:0002169	Clonus	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0001347	HP:0002169	Clonus	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0001347	HP:0001348	Brisk reflexes	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0001347	HP:0001348	Brisk reflexes	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0001347	HP:0002169	Clonus	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0001347	HP:0001348	Brisk reflexes	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040281 - Very frequent	117
HP:0001347	HP:0002169	Clonus	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.	117
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0001347	HP:0007054	Proximal hyperreflexia	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0001347	HP:0001348	Brisk reflexes	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent	27
HP:0001347	HP:0033683	Jaw hyperreflexia	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	121
HP:0001347	HP:0002169	Clonus	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.	201
HP:0001347	HP:0002169	Clonus	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0001347	HP:0001348	Brisk reflexes	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30		27
HP:0001347	HP:0001348	Brisk reflexes	1	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0001347	HP:0002169	Clonus	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.	118
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	PDE8B CL E G H	8622	8794	OMIM:609161	Striatal degeneration, autosomal dominant	.	75
HP:0001347	HP:0002169	Clonus	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001347	HP:0002169	Clonus	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0001347	HP:0001348	Brisk reflexes	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0001347	HP:0001348	Brisk reflexes	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)		62
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001347	HP:0007054	Proximal hyperreflexia	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0001347	HP:0002169	Clonus	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0001347	HP:0001348	Brisk reflexes	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0001347	HP:0001348	Brisk reflexes	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0001347	HP:0002169	Clonus	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0001347	HP:0002169	Clonus	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0001347	HP:0001348	Brisk reflexes	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0001347	HP:0001348	Brisk reflexes	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001347	HP:0002169	Clonus	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0001347	HP:0001348	Brisk reflexes	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040284 - Very rare	79
HP:0001347	HP:0001348	Brisk reflexes	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent	7
HP:0001347	HP:0002169	Clonus	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0001347	HP:0002169	Clonus	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0001347	HP:0002169	Clonus	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0001347	HP:0002169	Clonus	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0001347	HP:0002169	Clonus	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome		40
HP:0001347	HP:0001348	Brisk reflexes	1	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability	HP:0040284 - Very rare
HP:0001347	HP:0001348	Brisk reflexes	1	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0001347	HP:0001348	Brisk reflexes	1	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0001347	HP:0001348	Brisk reflexes	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0001347	HP:0002169	Clonus	1	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:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	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:0001347	HP:0001348	Brisk reflexes	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	PRRT2 CL E G H	112476	30500	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040282 - Frequent	94
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	PRSS12 CL E G H	8492	9477	OMIM:249500	Mental retardation, autosomal recessive 1	.	73
HP:0001347	HP:0002169	Clonus	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.	8
HP:0001347	HP:0002169	Clonus	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0001347	HP:0002169	Clonus	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.	241
HP:0001347	HP:0002169	Clonus	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional	19
HP:0001347	HP:0002169	Clonus	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0001347	HP:0002169	Clonus	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0001347	HP:0001348	Brisk reflexes	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040281 - Very frequent	87
HP:0001347	HP:0007054	Proximal hyperreflexia	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31		87
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040282 - Frequent	87
HP:0001347	HP:0002169	Clonus	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant		87
HP:0001347	HP:0007034	Generalized hyperreflexia	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0001347	HP:0001348	Brisk reflexes	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0001347	HP:0002169	Clonus	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0001347	HP:0007054	Proximal hyperreflexia	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12		25
HP:0001347	HP:0002169	Clonus	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant		25
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0001347	HP:0002169	Clonus	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001347	HP:0007054	Proximal hyperreflexia	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0001347	HP:0002169	Clonus	1	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome		4
HP:0001347	HP:0001348	Brisk reflexes	1	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0001347	HP:0007054	Proximal hyperreflexia	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		304
HP:0001347	HP:0007054	Proximal hyperreflexia	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		16
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0001347	HP:0007054	Proximal hyperreflexia	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		237
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0001347	HP:0007054	Proximal hyperreflexia	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency		129
HP:0001347	HP:0002169	Clonus	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0001347	HP:0002169	Clonus	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0001347	HP:0002169	Clonus	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0001347	HP:0001348	Brisk reflexes	1	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0001347	HP:0002169	Clonus	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	HP:0040283 - Occasional	162
HP:0001347	HP:0002169	Clonus	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0001347	HP:0001348	Brisk reflexes	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0001347	HP:0001348	Brisk reflexes	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0001347	HP:0002169	Clonus	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0001347	HP:0002169	Clonus	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome	.	57
HP:0001347	HP:0002169	Clonus	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0001347	HP:0001348	Brisk reflexes	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0001347	HP:0002169	Clonus	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0001347	HP:0007034	Generalized hyperreflexia	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0001347	HP:0002169	Clonus	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent	88
HP:0001347	HP:0002169	Clonus	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.	88
HP:0001347	HP:0002169	Clonus	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001347	HP:0007034	Generalized hyperreflexia	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	SLC2A1 CL E G H	6513	11005	ORPHA:98811	Paroxysmal exertion-induced dyskinesia	HP:0040282 - Frequent	255
HP:0001347	HP:0002169	Clonus	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040283 - Occasional	1
HP:0001347	HP:0002169	Clonus	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040282 - Frequent	48
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant	.	48
HP:0001347	HP:0002169	Clonus	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome		5
HP:0001347	HP:0002169	Clonus	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0001347	HP:0001348	Brisk reflexes	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0001347	HP:0002169	Clonus	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC		1
HP:0001347	HP:0002169	Clonus	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0001347	HP:0007034	Generalized hyperreflexia	1	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.	51
HP:0001347	HP:0001348	Brisk reflexes	1	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3		81
HP:0001347	HP:0002169	Clonus	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0001347	HP:0002169	Clonus	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0001347	HP:0001348	Brisk reflexes	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0001347	HP:0002169	Clonus	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0001347	HP:0002169	Clonus	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20		66
HP:0001347	HP:0002169	Clonus	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive		66
HP:0001347	HP:0007054	Proximal hyperreflexia	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0001347	HP:0001348	Brisk reflexes	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0001347	HP:0002169	Clonus	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4		208
HP:0001347	HP:0007054	Proximal hyperreflexia	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11		287
HP:0001347	HP:0002169	Clonus	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0001347	HP:0001348	Brisk reflexes	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	287
HP:0001347	HP:0002169	Clonus	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive		287
HP:0001347	HP:0007034	Generalized hyperreflexia	1	SPG7 CL E G H	6687	11237	ORPHA:35689	Primary lateral sclerosis	HP:0040281 - Very frequent	171
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0001347	HP:0002169	Clonus	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001347	HP:0001348	Brisk reflexes	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001347	HP:0001348	Brisk reflexes	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent	54
HP:0001347	HP:0002169	Clonus	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0001347	HP:0007054	Proximal hyperreflexia	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.	47
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0001347	HP:0002169	Clonus	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0001347	HP:0002169	Clonus	1	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16		14
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0001347	HP:0001348	Brisk reflexes	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0001347	HP:0002169	Clonus	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type		1129
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	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:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.	12
HP:0001347	HP:0002169	Clonus	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	.	12
HP:0001347	HP:0002169	Clonus	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:0001347	HP:0007034	Generalized hyperreflexia	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001347	HP:0001348	Brisk reflexes	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0001347	HP:0001348	Brisk reflexes	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	80
HP:0001347	HP:0002169	Clonus	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent	1
HP:0001347	HP:0002169	Clonus	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	HP:0040284 - Very rare	1
HP:0001347	HP:0002169	Clonus	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome		15
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0001347	HP:0001348	Brisk reflexes	1	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	TMEM63C CL E G H	57156	23787	OMIM:619966
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0001347	HP:0007054	Proximal hyperreflexia	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0001347	HP:0002169	Clonus	1	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0001347	HP:0001348	Brisk reflexes	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0001347	HP:0001348	Brisk reflexes	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001347	HP:0001348	Brisk reflexes	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001347	HP:0001348	Brisk reflexes	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001347	HP:0001348	Brisk reflexes	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001347	HP:0001348	Brisk reflexes	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001347	HP:0001348	Brisk reflexes	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0001347	HP:0002169	Clonus	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0001347	HP:0001348	Brisk reflexes	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent	2
HP:0001347	HP:0001348	Brisk reflexes	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0001347	HP:0007054	Proximal hyperreflexia	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0001347	HP:0002169	Clonus	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0001347	HP:0007054	Proximal hyperreflexia	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent	278
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040282 - Frequent	278
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040282 - Frequent	278
HP:0001347	HP:0002169	Clonus	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0001347	HP:0002169	Clonus	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0001347	HP:0006801	Hyperactive deep tendon reflexes	1	UROC1 CL E G H	131669	26444	ORPHA:210128	Urocanic aciduria	HP:0040281 - Very frequent	8
HP:0001347	HP:0002169	Clonus	1	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040282 - Frequent	7
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	USP8 CL E G H	9101	12631	ORPHA:401795	Autosomal recessive spastic paraplegia type 59	HP:0040282 - Frequent	7
HP:0001347	HP:0001348	Brisk reflexes	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0001347	HP:0002169	Clonus	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040280 - Obligate	63
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	VPS11 CL E G H	55823	14583	OMIM:619637	DYSTONIA 32; DYT32		1
HP:0001347	HP:0007054	Proximal hyperreflexia	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53		7
HP:0001347	HP:0002169	Clonus	1	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040281 - Very frequent	7
HP:0001347	HP:0002169	Clonus	1	VPS37A CL E G H	137492	24928	OMIM:614898	SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53		7
HP:0001347	HP:0001348	Brisk reflexes	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0001347	HP:0002169	Clonus	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040283 - Occasional	83
HP:0001347	HP:0001348	Brisk reflexes	1	WDR4 CL E G H	10785	12756	OMIM:618346	Microcephaly, growth deficiency, seizures, and brain malformations
HP:0001347	HP:0001348	Brisk reflexes	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations		224
HP:0001347	HP:0002395	Lower limb hyperreflexia	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent	189
HP:0001347	HP:0002169	Clonus	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.	189
HP:0001347	HP:0002169	Clonus	1	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant		52
HP:0001347	HP:0011728	Elbow clonus	2	CL E G H
HP:0001347	HP:0033206	Hyperactive Achilles reflex	2	CL E G H
HP:0001347	HP:0011448	Ankle clonus	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254
HP:0001347	HP:0011448	Ankle clonus	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0001347	HP:0011448	Ankle clonus	2	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040281 - Very frequent	89
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040281 - Very frequent	89
HP:0001347	HP:0011448	Ankle clonus	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	ARL6IP1 CL E G H	23204	697	ORPHA:401780	Autosomal recessive spastic paraplegia type 61	HP:0040282 - Frequent	1
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	ARL6IP1 CL E G H	23204	697	OMIM:615685	Spastic paraplegia 61, autosomal recessive	.	1
HP:0001347	HP:0011448	Ankle clonus	2	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040282 - Frequent	71
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040281 - Very frequent	100
HP:0001347	HP:0011448	Ankle clonus	2	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040282 - Frequent	114
HP:0001347	HP:0011448	Ankle clonus	2	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040283 - Occasional	4
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040282 - Frequent	4
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76		4
HP:0001347	HP:0011448	Ankle clonus	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001347	HP:0011448	Ankle clonus	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001347	HP:0011448	Ankle clonus	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	CYP2U1 CL E G H	113612	20582	OMIM:615030	Spastic paraplegia 56, autosomal recessive		18
HP:0001347	HP:0011448	Ankle clonus	2	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040282 - Frequent	57
HP:0001347	HP:0011448	Ankle clonus	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent	18
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional	18
HP:0001347	HP:0011448	Ankle clonus	2	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional	18
HP:0001347	HP:0011448	Ankle clonus	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040282 - Frequent	76
HP:0001347	HP:0011448	Ankle clonus	2	FA2H CL E G H	79152	21197	OMIM:612319	Spastic paraplegia 35, autosomal recessive	HP:0040283 - Occasional	76
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040281 - Very frequent	7
HP:0001347	HP:0011448	Ankle clonus	2	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional	33
HP:0001347	HP:0011448	Ankle clonus	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	160
HP:0001347	HP:0011448	Ankle clonus	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0001347	HP:0011449	Knee clonus	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.	30
HP:0001347	HP:0011448	Ankle clonus	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent	46
HP:0001347	HP:0011448	Ankle clonus	2	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.	12
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0001347	HP:0011448	Ankle clonus	2	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	.	276
HP:0001347	HP:0011448	Ankle clonus	2	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040284 - Very rare	93
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent	93
HP:0001347	HP:0011449	Knee clonus	2	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0001347	HP:0011448	Ankle clonus	2	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.	93
HP:0001347	HP:0011448	Ankle clonus	2	KLC2 CL E G H	64837	20716	OMIM:609541	Spastic paraplegia, optic atrophy, and neuropathy		1
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0001347	HP:0011449	Knee clonus	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0001347	HP:0011448	Ankle clonus	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0001347	HP:0011448	Ankle clonus	2	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0001347	HP:0011448	Ankle clonus	2	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84		11
HP:0001347	HP:0011448	Ankle clonus	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0001347	HP:0011448	Ankle clonus	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0001347	HP:0011448	Ankle clonus	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0001347	HP:0011448	Ankle clonus	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional	81
HP:0001347	HP:0011448	Ankle clonus	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040282 - Frequent	87
HP:0001347	HP:0011448	Ankle clonus	2	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.	87
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional	25
HP:0001347	HP:0011448	Ankle clonus	2	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0001347	HP:0011449	Knee clonus	2	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.	25
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0001347	HP:0011448	Ankle clonus	2	SAMD9L CL E G H	219285	1349	OMIM:159550	Ataxia-Pancytopenia syndrome	.	4
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	304
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	16
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	237
HP:0001347	HP:0007083	Hyperactive patellar reflex	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent	129
HP:0001347	HP:0011448	Ankle clonus	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040280 - Obligate
HP:0001347	HP:0011448	Ankle clonus	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0001347	HP:0011448	Ankle clonus	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional	57
HP:0001347	HP:0011448	Ankle clonus	2	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0001347	HP:0011448	Ankle clonus	2	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0001347	HP:0011448	Ankle clonus	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0001347	HP:0011449	Knee clonus	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0001347	HP:0011448	Ankle clonus	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0001347	HP:0011448	Ankle clonus	2	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0001347	HP:0011448	Ankle clonus	2	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0001347	HP:0011448	Ankle clonus	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0001347	HP:0011448	Ankle clonus	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0001347	HP:0011449	Knee clonus	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.	66
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040283 - Occasional	208
HP:0001347	HP:0011448	Ankle clonus	2	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent	208
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0001347	HP:0011449	Knee clonus	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0001347	HP:0011448	Ankle clonus	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	287
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149
HP:0001347	HP:0011448	Ankle clonus	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0001347	HP:0011448	Ankle clonus	2	STUB1 CL E G H	10273	11427	OMIM:615768	Spinocerebellar ataxia, autosomal recessive 16	HP:0040283 - Occasional	14
HP:0001347	HP:0011448	Ankle clonus	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional	1129
HP:0001347	HP:0011448	Ankle clonus	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO		7
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040283 - Occasional
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	UBAP1 CL E G H	51271	12461	OMIM:618418	Spastic paraplegia 80, autosomal dominant
HP:0001347	HP:0011448	Ankle clonus	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0001347	HP:0011448	Ankle clonus	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0001347	HP:0007350	Hyperreflexia in upper limbs	2	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040281 - Very frequent	7
HP:0001347	HP:0011448	Ankle clonus	2	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.	52
HP:0001347	HP:0033203	Brachioradialis hyperreflexia	3	CL E G H
HP:0001347	HP:0033205	Biceps hyperreflexia	3	CL E G H
HP:0001347	HP:0033204	Triceps hyperreflexia	3	ABCC9 CL E G H	10060	60	OMIM:619719	INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS		254

Genes (783) :AAAS AARS1 AASS ABAT ABCA4 ABCB7 ABCC8 ABCC9 ABCD1 ABHD12 ABHD16A ACOX1 ACSL4 ACTA1 ADAR ADCY5 ADGRG1 ADSL AFG3L2 AGBL5 AGTPBP1 AHI1 AHR AIFM1 AIMP2 ALDH18A1 ALG11 ALG2 ALG3 ALG9 ALS2 AMACR AMPD2 AMT ANKLE2 ANO10 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APOE ARHGEF18 ARL2BP ARL3 ARL6 ARL6IP1 ARSA ARX ASNS ASPA ASPM ATAD1 ATG5 ATL1 ATP13A2 ATP1A2 ATP1A3 ATP5MC3 ATP5MK ATP6 ATP6AP2 ATP6V1A ATP8A2 ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH AUTS2 B4GALNT1 BAZ1B BBS1 BBS2 BCAS3 BCAT2 BCL7B BCS1L BEAN1 BEST1 BICD2 BRAT1 BRCA1 BRCA2 BRIP1 BSCL2 BUD23 C19ORF12 C4A C9ORF72 CA4 CA8 CACNA1A CACNA1E CACNA1G CADM3 CAMTA1 CAPN1 CARS1 CASK CAV1 CC2D2A CCDC88A CCDC88C CCR1 CCT5 CD40LG CDC40 CDHR1 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 CERKL CFAP418 CHCHD2 CHKA CHMP1A CHMP2B CHP1 CIT CLDN11 CLIP2 CLN5 CLP1 CLPB CLRN1 CLTRN CNGA1 CNGB1 CNP CNTNAP1 COG4 COG5 COPB2 COQ2 COQ5 COQ8A COQ9 COX10 COX15 COX4I1 COX5A CPT1C CRAT CRB1 CREBBP CRX CSF1R CTNNA2 CTSF CWF19L1 CYFIP2 CYP27A1 CYP2U1 CYP7B1 DARS1 DARS2 DCC DCTN1 DDC DDHD1 DDHD2 DENND5A DGUOK DHDDS DHX38 DKK1 DLAT DNAJC30 DNAJC6 DNM1L DNMT1 DPAGT1 DPM1 DPYD DSTYK DTYMK DYM DYNC1I2 ECHS1 EEF2 EIF2S3 EIF4H ELN ELOVL1 ELOVL4 ELP2 EMILIN1 EP300 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ERLIN1 ERLIN2 EXOC8 EXOSC3 EXOSC5 EXOSC8 EXOSC9 EXTL3 EYA1 EYS FA2H FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAR1 FARS2 FAS FBLN5 FBXO7 FDX2 FGF13 FKBP6 FKRP FLRT1 FOXRED1 FRMPD4 FSCN2 FTL FUCA1 FUS GAD1 GALC GAMT GAN GARS1 GBA1 GBA2 GCH1 GCLC GCSH GDAP2 GEMIN5 GFAP GFM1 GFM2 GJA1 GJB1 GJC2 GLDC GLE1 GLRA1 GLRB GLRX5 GLUL GLYCTK GM2A GMPPA GMPPB GNAQ GNB1 GNB2 GNS GPAA1 GPHN GPT2 GRIA3 GRID2 GRIN1 GRM1 GRM7 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP2 GUCA1B H4C5 HARS1 HEXB HGSNAT HIBCH HIKESHI HLA-B HPDL HPRT1 HRAS HSPD1 HTRA1 HTRA2 HTT HUWE1 HYCC1 IBA57 IDH3A IDH3B IER3IP1 IFNGR1 IFRD1 IFT140 IFT172 IFT88 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPDH2 IMPG1 IMPG2 INPP5E IREB2 IRF2BPL ISCA1 ISCA2 ITPR1 JAM2 JAM3 JPH3 KATNB1 KCNA1 KCNC3 KCND3 KCNJ18 KCNJ6 KCNK4 KCNQ2 KCNQ3 KCNT1 KDM1A KDM5C KIAA1549 KIDINS220 KIF14 KIF1A KIF1C KIF5A KIZ KLC2 KLHL7 KLRC4 KNL1 KPNA3 KRAS KY L1CAM LARGE1 LBR LETM1 LIMK1 LIPT1 LMNB1 LRAT LRRK2 LYRM4 LYRM7 MAB21L1 MAD2L2 MAG MAK MAN2B1 MAPT MARS2 MAT1A MATR3 MBOAT7 MCCC1 MCCC2 MCM7 MCOLN1 MCPH1 MECP2 MECR MED17 MEFV MERTK METTL27 METTL5 MFF MFN2 MFSD2A MICOS13 MICU1 MINPP1 MKS1 MLXIPL MORC2 MPLKIP MRE11 MRPS25 MRPS34 MSL3 MSTN MTFMT MTPAP MTRFR MYL2 MYORG NAA10 NAA20 NAGA NALCN NARS1 NARS2 NCAPD3 NCF1 ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDP NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEFH NEK1 NEK2 NEU1 NFASC NFIX NIPA1 NKX6-2 NONO NOP56 NOTCH2NLC NR2E3 NR4A2 NRAS NRCAM NRL NSD1 NSRP1 NSUN2 NT5C2 NTRK2 NUBPL NUP62 OCA2 OCLN OCRL OFD1 OPA1 OPA3 OSTM1 PAH PAK3 PALB2 PANK2 PARK7 PARS2 PAX1 PC PCARE PCDH12 PCLO PCYT2 PDE6A PDE6B PDE6G PDE8B PDGFB PDGFRB PDHA1 PDYN PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PGM3 PHC1 PI4KA PIGA PIGN PIGP PIGT PINK1 PITRM1 PKDCC PLA2G6 PLCB1 PLP1 PLXNA1 PMM2 PMP22 PMPCA PNPLA6 PODXL POLR3A POLR3B POMGNT1 POMK POMT1 POMT2 POU3F4 POU4F1 PPIL1 PPOX PPP1R15B PPP2R2B PQBP1 PRCD PRDM13 PRDM8 PRKCG PRKN PRKRA PRNP PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH PRPH2 PRPS1 PRR12 PRRT2 PRSS12 PRUNE1 PSAP PSAT1 PSEN1 PTS PUS3 PYCR2 QARS1 RAB18 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RARS1 RARS2 RBP3 RDH12 REEP1 REEP2 REEP6 RFC2 RFT1 RFWD3 RGR RHO RLBP1 RLIM RNASEH1 RNASEH2C RNF113A RNF170 RNF2 RNF220 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1L RTN2 RUBCN RUSC2 SACS SAG SAMD9L SASS6 SCAPER SCN1A SCYL1 SDHA SDHAF1 SDHB SDHD SEC31A SELENOI SEMA4A SEMA6B SEPSECS SET SETX SHMT2 SIGMAR1 SIK1 SLC12A2 SLC16A2 SLC18A2 SLC19A3 SLC1A3 SLC1A4 SLC20A2 SLC25A12 SLC25A15 SLC25A21 SLC25A22 SLC25A46 SLC29A3 SLC2A1 SLC2A3 SLC33A1 SLC35C1 SLC38A3 SLC39A14 SLC39A8 SLC44A1 SLC46A1 SLC52A3 SLC6A19 SLC6A5 SLC6A9 SLC7A14 SLX4 SMG9 SNCA SNRNP200 SNRPN SOD1 SPART SPAST SPATA7 SPG11 SPG21 SPG7 SPR SPTAN1 SPTBN1 SPTBN2 SPTLC1 SPTLC2 SQSTM1 SRPX2 ST3GAL5 STAT4 STIL STUB1 STX1A SUMF1 SURF1 SYNE1 SYNJ1 TACO1 TAF1 TAF13 TAF2 TANGO2 TARS1 TBCD TBK1 TBL2 TBX4 TCTN2 TFG TGM6 TH TICAM1 TIMM50 TIMM8A TLR3 TLR4 TMEM106B TMEM270 TMEM63C TMEM67 TMX2 TNR TOE1 TOPORS TOR1A TPP1 TRAF3 TRAK1 TRAPPC10 TRAPPC11 TRAPPC14 TRAPPC6B TREM2 TREX1 TRIO TRMT10A TRMT5 TRNE TRNK TRNL1 TRNL2 TRNN TRNS1 TRNV TRNW TRRAP TSEN15 TSEN2 TSPOAP1 TTBK2 TTC19 TTC8 TUB TUBB2B TUBGCP2 TULP1 UBAC2 UBAP1 UBE2T UBE3A UCHL1 UFC1 UGDH UGP2 UNC93B1 UQCRQ UROC1 USH2A USP8 VAC14 VAMP1 VCP VLDLR VPS11 VPS13C VPS13D VPS37A VPS37D VRK1 VWA3B WARS2 WASHC5 WDR4 WDR62 WDR73 WDR81 WLS WWOX XRCC2 ZC4H2 ZEB2 ZFR ZFYVE26 ZFYVE27 ZNF408 ZNF513 ZNHIT3

Diseases (736) :OMIM:231550 ORPHA:869 OMIM:619691 ORPHA:2203 OMIM:613163 ORPHA:791 OMIM:301310 ORPHA:2802 OMIM:240800 OMIM:619719 ORPHA:139399 ORPHA:139396 OMIM:612674 OMIM:619735 ORPHA:2971 OMIM:300387 OMIM:161800 ORPHA:225154 OMIM:606703 ORPHA:324588 ORPHA:98889 OMIM:606854 OMIM:103050 OMIM:610246 ORPHA:101109 ORPHA:2254 ORPHA:83629 OMIM:618006 ORPHA:90348 ORPHA:447753 ORPHA:447757 ORPHA:447760 OMIM:616603 OMIM:219150 OMIM:601162 OMIM:616586 ORPHA:280071 OMIM:607906 OMIM:601110 ORPHA:79328 OMIM:608776 OMIM:205100 ORPHA:293168 ORPHA:300605 ORPHA:247604 OMIM:606353 OMIM:607225 OMIM:614307 ORPHA:401805 OMIM:615809 OMIM:615686 OMIM:605899 ORPHA:2512 ORPHA:284289 OMIM:613728 OMIM:304340 ORPHA:280763 OMIM:614066 OMIM:613744 OMIM:612936 OMIM:614067 ORPHA:306511 OMIM:607822 ORPHA:401780 OMIM:615685 OMIM:250100 OMIM:308350 OMIM:300215 OMIM:615574 ORPHA:314918 ORPHA:314911 ORPHA:3197 OMIM:618011 OMIM:617584 ORPHA:100984 OMIM:613708 OMIM:182600 ORPHA:513436 ORPHA:306674 OMIM:606693 OMIM:617225 ORPHA:2131 OMIM:619681 OMIM:618683 ORPHA:255210 ORPHA:320360 OMIM:300911 ORPHA:363654 OMIM:618012 ORPHA:1766 OMIM:309580 OMIM:164400 ORPHA:98755 OMIM:603516 ORPHA:98761 ORPHA:98756 ORPHA:276238 ORPHA:276241 ORPHA:276244 OMIM:164500 ORPHA:94147 ORPHA:98760 OMIM:250950 ORPHA:352490 ORPHA:101006 OMIM:609195 ORPHA:904 OMIM:619641 OMIM:618850 OMIM:124000 ORPHA:217012 ORPHA:363454 OMIM:615290 OMIM:618056 OMIM:614498 ORPHA:84 ORPHA:100998 ORPHA:139536 OMIM:615924 ORPHA:363400 OMIM:270685 ORPHA:320370 ORPHA:289560 OMIM:614298 OMIM:615043 ORPHA:117 ORPHA:275864 OMIM:617106 ORPHA:98758 OMIM:618285 OMIM:616795 OMIM:618087 OMIM:619519 ORPHA:314647 ORPHA:488594 OMIM:616907 OMIM:618891 ORPHA:33364 OMIM:300749 OMIM:606721 ORPHA:1454 OMIM:617507 OMIM:616053 ORPHA:423275 ORPHA:139578 OMIM:256840 OMIM:308230 OMIM:619302 OMIM:616710 OMIM:620023 OMIM:614961 OMIM:600795 OMIM:618438 OMIM:617090 OMIM:619328 ORPHA:228360 ORPHA:411493 OMIM:615803 ORPHA:445038 OMIM:616271 ORPHA:2116 OMIM:619071 OMIM:618186 ORPHA:263501 ORPHA:263487 OMIM:146500 OMIM:619028 ORPHA:139485 OMIM:612016 OMIM:614654 OMIM:619046 ORPHA:255241 OMIM:619060 OMIM:619064 ORPHA:444099 OMIM:616282 OMIM:617917 OMIM:180849 OMIM:618476 OMIM:221820 OMIM:618174 OMIM:615362 OMIM:616127 OMIM:618008 ORPHA:909 OMIM:213700 ORPHA:320411 OMIM:615030 ORPHA:100986 OMIM:270800 OMIM:615281 OMIM:611105 OMIM:617542 OMIM:105400 OMIM:608643 ORPHA:101008 OMIM:609340 OMIM:615033 OMIM:617281 OMIM:251880 ORPHA:268882 ORPHA:79244 OMIM:245348 ORPHA:2828 ORPHA:330050 ORPHA:314404 OMIM:604121 OMIM:608093 OMIM:608799 ORPHA:1675 ORPHA:101003 OMIM:270750 OMIM:619847 ORPHA:239 OMIM:618492 ORPHA:101112 OMIM:300148 ORPHA:85282 OMIM:194050 OMIM:618527 OMIM:133190 OMIM:617270 OMIM:620080 OMIM:610758 OMIM:610651 ORPHA:90321 OMIM:214150 ORPHA:90324 ORPHA:401785 OMIM:615681 ORPHA:209951 ORPHA:280384 OMIM:611225 OMIM:619076 OMIM:614678 OMIM:619576 OMIM:616081 OMIM:618065 ORPHA:508533 ORPHA:2792 ORPHA:171629 OMIM:612319 ORPHA:466722 OMIM:617046 OMIM:260300 ORPHA:171695 OMIM:251900 OMIM:301058 ORPHA:370959 ORPHA:320406 OMIM:300983 OMIM:606159 ORPHA:157846 OMIM:230000 OMIM:619124 ORPHA:206448 ORPHA:206436 OMIM:245200 OMIM:612736 OMIM:256850 OMIM:600794 OMIM:230900 ORPHA:2072 ORPHA:352641 ORPHA:320391 OMIM:614409 ORPHA:98808 OMIM:128230 ORPHA:33574 OMIM:618369 OMIM:619333 ORPHA:363717 ORPHA:363722 OMIM:609060 ORPHA:565624 OMIM:164200 ORPHA:2710 OMIM:302800 ORPHA:1175 OMIM:613206 OMIM:611890 OMIM:614619 ORPHA:401866 OMIM:616859 OMIM:610015 OMIM:220120 ORPHA:309246 OMIM:272750 OMIM:615510 ORPHA:3205 OMIM:616973 OMIM:619503 OMIM:252940 OMIM:617810 ORPHA:529665 OMIM:615501 OMIM:616281 ORPHA:477673 OMIM:300699 OMIM:616204 OMIM:614254 ORPHA:324262 OMIM:617691 OMIM:614831 OMIM:618922 OMIM:617988 OMIM:619950 ORPHA:488333 OMIM:616625 OMIM:268800 ORPHA:309155 ORPHA:88639 OMIM:616881 OMIM:619027 ORPHA:79233 OMIM:300322 ORPHA:2612 ORPHA:2874 ORPHA:100994 OMIM:612233 OMIM:605280 OMIM:600142 OMIM:617248 ORPHA:399 OMIM:143100 ORPHA:248111 OMIM:617435 OMIM:309590 OMIM:610532 ORPHA:468661 OMIM:616451 OMIM:614231 ORPHA:98771 OMIM:618451 OMIM:618088 OMIM:617613 OMIM:616370 OMIM:606658 ORPHA:98769 OMIM:618824 OMIM:613730 OMIM:606438 ORPHA:98934 OMIM:616212 OMIM:160120 OMIM:605259 ORPHA:98768 OMIM:607346 ORPHA:98772 OMIM:613239 OMIM:614098 ORPHA:435628 OMIM:618381 ORPHA:1949 OMIM:614959 ORPHA:477993 OMIM:300534 ORPHA:85279 OMIM:617296 ORPHA:101010 OMIM:614255 ORPHA:2836 OMIM:610357 ORPHA:397946 OMIM:611302 ORPHA:100991 OMIM:604187 OMIM:609541 ORPHA:171612 ORPHA:496689 ORPHA:2466 OMIM:608840 OMIM:169400 OMIM:620089 ORPHA:99027 OMIM:169500 OMIM:615595 OMIM:615838 OMIM:618479 OMIM:616680 OMIM:248500 ORPHA:314603 OMIM:611390 OMIM:250850 OMIM:606070 ORPHA:600 OMIM:617188 OMIM:210200 OMIM:210210 OMIM:252650 ORPHA:578 OMIM:300673 OMIM:300055 ORPHA:3077 OMIM:617282 OMIM:613668 OMIM:617086 ORPHA:485421 OMIM:609260 OMIM:616486 OMIM:618329 OMIM:615673 ORPHA:284339 OMIM:617121 OMIM:619090 ORPHA:251347 OMIM:619025 OMIM:617664 OMIM:301032 OMIM:614160 ORPHA:254343 OMIM:613672 ORPHA:320375 ORPHA:254930 OMIM:615035 OMIM:619424 OMIM:618317 OMIM:300855 OMIM:619717 OMIM:609241 OMIM:615419 OMIM:619091 OMIM:619092 OMIM:616239 OMIM:614019 OMIM:605013 ORPHA:649 OMIM:619065 OMIM:618240 OMIM:618237 OMIM:618226 OMIM:618228 OMIM:252010 OMIM:618224 OMIM:618222 OMIM:617892 OMIM:256550 OMIM:618356 OMIM:602535 ORPHA:100988 OMIM:600363 ORPHA:527497 OMIM:617560 ORPHA:466791 OMIM:614153 ORPHA:276198 ORPHA:2289 OMIM:619833 OMIM:117550 OMIM:620001 OMIM:611091 ORPHA:320396 OMIM:613162 OMIM:617830 OMIM:618242 ORPHA:98794 OMIM:251290 ORPHA:1229 ORPHA:534 OMIM:300209 OMIM:210000 OMIM:258501 OMIM:259720 ORPHA:79254 OMIM:300558 ORPHA:216873 ORPHA:216866 OMIM:234200 OMIM:606324 OMIM:618437 OMIM:266150 OMIM:251280 OMIM:608027 OMIM:618770 OMIM:609161 OMIM:213600 OMIM:610245 ORPHA:101108 OMIM:619055 ORPHA:44 ORPHA:247815 OMIM:614877 OMIM:614886 OMIM:617370 ORPHA:401820 OMIM:615802 ORPHA:443811 OMIM:619621 OMIM:300868 OMIM:301072 ORPHA:280633 OMIM:614080 OMIM:617599 OMIM:615398 OMIM:605909 OMIM:619405 OMIM:618821 ORPHA:199351 ORPHA:35069 OMIM:256600 OMIM:612953 OMIM:613722 ORPHA:280229 OMIM:312920 ORPHA:99015 OMIM:619955 OMIM:212065 ORPHA:101081 ORPHA:1170 OMIM:213200 ORPHA:139480 OMIM:612020 OMIM:607694 ORPHA:447896 OMIM:619742 OMIM:614381 ORPHA:1435 OMIM:619301 ORPHA:79473 OMIM:616817 ORPHA:391408 OMIM:604326 ORPHA:98762 OMIM:309500 OMIM:619761 ORPHA:324290 OMIM:616640 OMIM:605361 OMIM:600116 OMIM:612067 ORPHA:210571 OMIM:137440 ORPHA:157941 OMIM:301835 ORPHA:423479 OMIM:619539 ORPHA:98811 OMIM:249500 OMIM:617481 ORPHA:544469 OMIM:611722 OMIM:249900 ORPHA:284417 ORPHA:13 OMIM:261640 ORPHA:488627 OMIM:616420 ORPHA:481152 OMIM:615760 OMIM:614222 OMIM:619420 OMIM:600118 OMIM:212720 OMIM:616140 ORPHA:438114 OMIM:611523 ORPHA:101011 OMIM:610250 OMIM:615625 OMIM:612015 OMIM:300978 OMIM:616479 OMIM:610329 OMIM:619686 OMIM:619460 OMIM:619688 ORPHA:100993 OMIM:604805 OMIM:615705 OMIM:617773 OMIM:270550 ORPHA:2585 OMIM:159550 OMIM:619806 OMIM:619317 ORPHA:466794 OMIM:616719 ORPHA:3208 OMIM:252011 OMIM:619224 OMIM:618651 ORPHA:506353 OMIM:618768 OMIM:618876 OMIM:613811 OMIM:618106 OMIM:602433 OMIM:619121 OMIM:614373 ORPHA:1935 OMIM:619080 OMIM:300523 ORPHA:59 OMIM:618049 ORPHA:263410 OMIM:616657 ORPHA:447997 OMIM:612949 ORPHA:415 OMIM:238970 OMIM:618811 OMIM:616505 ORPHA:168569 ORPHA:71277 OMIM:601042 OMIM:606777 ORPHA:53583 OMIM:608885 ORPHA:171863 OMIM:612539 ORPHA:99843 OMIM:619881 ORPHA:521406 OMIM:617013 OMIM:616721 ORPHA:468699 OMIM:618868 ORPHA:90045 OMIM:211530 OMIM:211500 OMIM:234500 OMIM:614618 OMIM:617301 OMIM:619995 OMIM:616920 OMIM:105830 ORPHA:177907 OMIM:618598 ORPHA:101000 OMIM:275900 ORPHA:100985 OMIM:182601 OMIM:602099 ORPHA:2822 OMIM:604360 ORPHA:101001 OMIM:248900 ORPHA:35689 OMIM:607259 ORPHA:99013 ORPHA:70594 OMIM:613477 OMIM:619475 ORPHA:352403 OMIM:600224 OMIM:615386 OMIM:613640 OMIM:616437 OMIM:617145 OMIM:609056 ORPHA:412057 OMIM:618093 OMIM:615768 OMIM:272200 OMIM:220110 ORPHA:88644 ORPHA:480907 OMIM:615599 ORPHA:397951 OMIM:616878 ORPHA:480864 OMIM:617193 OMIM:616439 ORPHA:1930 ORPHA:261279 OMIM:616654 OMIM:615658 OMIM:613908 ORPHA:276193 ORPHA:101150 ORPHA:505216 OMIM:617698 ORPHA:52368 OMIM:304700 OMIM:617964 OMIM:619966 OMIM:216360 OMIM:618730 OMIM:619653 OMIM:614969 OMIM:128100 ORPHA:284324 OMIM:609270 OMIM:618201 OMIM:617862 OMIM:192315 OMIM:617061 OMIM:616539 ORPHA:2596 ORPHA:1349 ORPHA:663 OMIM:618454 OMIM:617026 OMIM:612389 OMIM:604432 OMIM:615157 OMIM:618737 OMIM:618418 ORPHA:411511 ORPHA:98795 OMIM:615491 OMIM:618076 OMIM:618792 OMIM:618744 OMIM:615159 ORPHA:210128 ORPHA:401795 OMIM:617054 ORPHA:251282 OMIM:108600 OMIM:613954 ORPHA:329475 OMIM:224050 OMIM:619637 OMIM:616840 OMIM:607317 ORPHA:319199 OMIM:614898 OMIM:607596 OMIM:616948 OMIM:617710 ORPHA:572798 ORPHA:100989 OMIM:603563 OMIM:618346 OMIM:604317 OMIM:251300 OMIM:619648 OMIM:616211 OMIM:301041 ORPHA:261552 ORPHA:401840 ORPHA:100996 OMIM:270700 OMIM:610244 OMIM:260565

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

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