Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of movement (HP:0100022)help
Parent Node:
expand
Abnormal reflex (HP:0031826)help
..Starting node
..expand
Hyperreflexia (HP:0001347)help
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:
........expandBrisk reflexes (HP:0001348) help
........expandClonus (HP:0002169) help
................... HP:0011448 Ankle clonus
................... HP:0011449 Knee clonus
................... HP:0011728 Elbow clonus
........expandLower limb hyperreflexia (HP:0002395) help
................... HP:0007083 Hyperactive patellar reflex
........expandHyperactive deep tendon reflexes (HP:0006801) help
........expandGeneralized hyperreflexia (HP:0007034) help
........expandHyperreflexia proximally (HP:0007054) help
........expandHyperreflexia in upper limbs (HP:0007350) help

 Sister Nodes: 
..expandAbnormal superficial reflex (HP:0031828) help
..expandReduced tendon reflexes (HP:0001315) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001347HP:0001347Hyperreflexia0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM116213666605378
HP:0001347HP:0001347Hyperreflexia0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM117413666605378
HP:0001347HP:0001347Hyperreflexia0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM141723137150
HP:0001347HP:0001347Hyperreflexia0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM150723137150
HP:0001347HP:0001347Hyperreflexia0ABCB7 CL E G H222802ORPHA124648300135
HP:0001347HP:0001347Hyperreflexia0ABCB7 CL E G H222802ORPHA125148300135
HP:0001347HP:0001347Hyperreflexia0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1112559600509
HP:0001347HP:0001347Hyperreflexia0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1125359600509
HP:0001347HP:0001347Hyperreflexia0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0001347HP:0001347Hyperreflexia0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0001347HP:0001347Hyperreflexia0ACOX1 CL E G H512971ORPHA1388119609751
HP:0001347HP:0001347Hyperreflexia0ACOX1 CL E G H512971ORPHA1435119609751
HP:0001347HP:0001347Hyperreflexia0ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12333571300157
HP:0001347HP:0001347Hyperreflexia0ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12393571300157
HP:0001347HP:0001347Hyperreflexia0ADAR CL E G H103225154ORPHA1471225146920
HP:0001347HP:0001347Hyperreflexia0ADAR CL E G H103225154ORPHA1654225146920
HP:0001347HP:0001347Hyperreflexia0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM14944512604110
HP:0001347HP:0001347Hyperreflexia0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM15364512604110
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13469722138250
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM13929722138250
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13469722138250
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM13929722138250
HP:0001347HP:0001347Hyperreflexia0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM119323159607905
HP:0001347HP:0001347Hyperreflexia0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM124123159607905
HP:0001347HP:0001347Hyperreflexia0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001347HP:0001347Hyperreflexia0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001347HP:0001347Hyperreflexia0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001347HP:0001347Hyperreflexia0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679247604ORPHA1524443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679247604ORPHA1644443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679293168ORPHA1524443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679293168ORPHA1644443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1524443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1644443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1524443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1644443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1524443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1644443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1524443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1644443606352
HP:0001347HP:0001347Hyperreflexia0AMPD2 CL E G H271401805ORPHA1172469102771
HP:0001347HP:0001347Hyperreflexia0AMPD2 CL E G H271401805ORPHA1230469102771
HP:0001347HP:0001347Hyperreflexia0AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1172469102771
HP:0001347HP:0001347Hyperreflexia0AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1230469102771
HP:0001347HP:0001347Hyperreflexia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001347HP:0001347Hyperreflexia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001347HP:0001347Hyperreflexia0ANKLE2 CL E G H231412512ORPHA118429101616062
HP:0001347HP:0001347Hyperreflexia0ANKLE2 CL E G H231412512ORPHA118929101616062
HP:0001347HP:0001347Hyperreflexia0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0001347HP:0001347Hyperreflexia0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0001347HP:0001347Hyperreflexia0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0001347HP:0001347Hyperreflexia0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0001347HP:0001347Hyperreflexia0AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0001347HP:0001347Hyperreflexia0AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0001347HP:0001347Hyperreflexia0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0001347HP:0001347Hyperreflexia0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0001347HP:0001347Hyperreflexia0AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0001347HP:0001347Hyperreflexia0AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0001347HP:0001347Hyperreflexia0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001347HP:0001347Hyperreflexia0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001347HP:0001347Hyperreflexia0AP4M1 CL E G H9179280763ORPHA1199574602296
HP:0001347HP:0001347Hyperreflexia0AP4M1 CL E G H9179280763ORPHA1264574602296
HP:0001347HP:0001347Hyperreflexia0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1199574602296
HP:0001347HP:0001347Hyperreflexia0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1264574602296
HP:0001347HP:0001347Hyperreflexia0AP4S1 CL E G H11154280763ORPHA189575607243
HP:0001347HP:0001347Hyperreflexia0AP4S1 CL E G H11154280763ORPHA1110575607243
HP:0001347HP:0001347Hyperreflexia0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM189575607243
HP:0001347HP:0001347Hyperreflexia0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1110575607243
HP:0001347HP:0001347Hyperreflexia0AP5Z1 CL E G H9907306511ORPHA171322197613653
HP:0001347HP:0001347Hyperreflexia0AP5Z1 CL E G H9907306511ORPHA178022197613653
HP:0001347HP:0001347Hyperreflexia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0001347HP:0001347Hyperreflexia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0001347HP:0001347Hyperreflexia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM156518060300382
HP:0001347HP:0001347Hyperreflexia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM162418060300382
HP:0001347HP:0001347Hyperreflexia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM156518060300382
HP:0001347HP:0001347Hyperreflexia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM162418060300382
HP:0001347HP:0001347Hyperreflexia0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001347HP:0001347Hyperreflexia0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001347HP:0001347Hyperreflexia0ASPM CL E G H2592662512ORPHA192019048605481
HP:0001347HP:0001347Hyperreflexia0ASPM CL E G H2592662512ORPHA1110319048605481
HP:0001347HP:0001347Hyperreflexia0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001347HP:0001347Hyperreflexia0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001347HP:0001347Hyperreflexia0ATAD1 CL E G H848963197Lateral body wall defectORPHA12725903614452
HP:0001347HP:0001347Hyperreflexia0ATAD1 CL E G H848963197Lateral body wall defectORPHA17625903614452
HP:0001347HP:0001347Hyperreflexia0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM131011231606439
HP:0001347HP:0001347Hyperreflexia0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM135611231606439
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H23400513436ORPHA148730213610513
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H23400513436ORPHA160930213610513
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM148730213610513
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM160930213610513
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM148730213610513
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM160930213610513
HP:0001347HP:0001347Hyperreflexia0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0001347HP:0001347Hyperreflexia0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0001347HP:0001347Hyperreflexia0ATP8A2 CL E G H517611766ORPHA112613533605870
HP:0001347HP:0001347Hyperreflexia0ATP8A2 CL E G H517611766ORPHA119313533605870
HP:0001347HP:0001347Hyperreflexia0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11103886300032
HP:0001347HP:0001347Hyperreflexia0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11217886300032
HP:0001347HP:0001347Hyperreflexia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0001347HP:0001347Hyperreflexia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0001347HP:0001347Hyperreflexia0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM19910549611150
HP:0001347HP:0001347Hyperreflexia0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110110549611150
HP:0001347HP:0001347Hyperreflexia0ATXN3 CL E G H4287276238ORPHA1447106607047
HP:0001347HP:0001347Hyperreflexia0ATXN3 CL E G H4287276241ORPHA1447106607047
HP:0001347HP:0001347Hyperreflexia0ATXN3 CL E G H4287276244ORPHA1447106607047
HP:0001347HP:0001347Hyperreflexia0ATXN7 CL E G H631494147ORPHA13710560607640
HP:0001347HP:0001347Hyperreflexia0ATXN7 CL E G H631494147ORPHA13910560607640
HP:0001347HP:0001347Hyperreflexia0ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0001347Hyperreflexia0ATXN8OS CL E G H631598760ORPHA17210561603680
HP:0001347HP:0001347Hyperreflexia0ATXN8OS CL E G H631598760ORPHA17610561603680
HP:0001347HP:0001347Hyperreflexia0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1145890600529
HP:0001347HP:0001347Hyperreflexia0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1177890600529
HP:0001347HP:0001347Hyperreflexia0B4GALNT1 CL E G H2583101006ORPHA11484117601873
HP:0001347HP:0001347Hyperreflexia0B4GALNT1 CL E G H2583101006ORPHA11694117601873
HP:0001347HP:0001347Hyperreflexia0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11484117601873
HP:0001347HP:0001347Hyperreflexia0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11694117601873
HP:0001347HP:0001347Hyperreflexia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0001347HP:0001347Hyperreflexia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0001347HP:0001347Hyperreflexia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0001347HP:0001347Hyperreflexia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0001347HP:0001347Hyperreflexia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0001347HP:0001347Hyperreflexia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0001347HP:0001347Hyperreflexia0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM172521701614506
HP:0001347HP:0001347Hyperreflexia0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM184721701614506
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H26580100998ORPHA133015832606158
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H26580100998ORPHA137315832606158
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM133015832606158
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM137315832606158
HP:0001347HP:0001347Hyperreflexia0C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0001347Hyperreflexia0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124025443614297
HP:0001347HP:0001347Hyperreflexia0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124825443614297
HP:0001347HP:0001347Hyperreflexia0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM124025443614297
HP:0001347HP:0001347Hyperreflexia0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM124825443614297
HP:0001347HP:0001347Hyperreflexia0CA8 CL E G H7671766ORPHA1771382114815
HP:0001347HP:0001347Hyperreflexia0CA8 CL E G H7671766ORPHA1831382114815
HP:0001347HP:0001347Hyperreflexia0CACNA1A CL E G H77398758ORPHA120471388601011
HP:0001347HP:0001347Hyperreflexia0CACNA1A CL E G H77398758ORPHA123261388601011
HP:0001347HP:0001347Hyperreflexia0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001347HP:0001347Hyperreflexia0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001347HP:0001347Hyperreflexia0CACNA1E CL E G H777618285618285618285OMIM14101392601013
HP:0001347HP:0001347Hyperreflexia0CACNA1E CL E G H777618285618285618285OMIM16431392601013
HP:0001347HP:0001347Hyperreflexia0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0001347HP:0001347Hyperreflexia0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0001347HP:0001347Hyperreflexia0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM15831497300172
HP:0001347HP:0001347Hyperreflexia0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM16331497300172
HP:0001347HP:0001347Hyperreflexia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001347HP:0001347Hyperreflexia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001347HP:0001347Hyperreflexia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0001347HP:0001347Hyperreflexia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0001347HP:0001347Hyperreflexia0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM16725523609736
HP:0001347HP:0001347Hyperreflexia0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM132225523609736
HP:0001347HP:0001347Hyperreflexia0CCDC88C CL E G H440193423275ORPHA125819967611204
HP:0001347HP:0001347Hyperreflexia0CCDC88C CL E G H440193423275ORPHA126519967611204
HP:0001347HP:0001347Hyperreflexia0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM125819967611204
HP:0001347HP:0001347Hyperreflexia0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM126519967611204
HP:0001347HP:0001347Hyperreflexia0CDK5RAP2 CL E G H557552512ORPHA145418672608201
HP:0001347HP:0001347Hyperreflexia0CDK5RAP2 CL E G H557552512ORPHA146318672608201
HP:0001347HP:0001347Hyperreflexia0CDK6 CL E G H10212512ORPHA1451777603368
HP:0001347HP:0001347Hyperreflexia0CENPJ CL E G H558352512ORPHA134717272609279
HP:0001347HP:0001347Hyperreflexia0CENPJ CL E G H558352512ORPHA139917272609279
HP:0001347HP:0001347Hyperreflexia0CEP135 CL E G H96622512ORPHA117629086611423
HP:0001347HP:0001347Hyperreflexia0CEP135 CL E G H96622512ORPHA124529086611423
HP:0001347HP:0001347Hyperreflexia0CEP152 CL E G H229952512ORPHA133429298613529
HP:0001347HP:0001347Hyperreflexia0CEP152 CL E G H229952512ORPHA140429298613529
HP:0001347HP:0001347Hyperreflexia0CEP63 CL E G H802542512ORPHA116725815614724
HP:0001347HP:0001347Hyperreflexia0CEP63 CL E G H802542512ORPHA120025815614724
HP:0001347HP:0001347Hyperreflexia0CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM16021645616244
HP:0001347HP:0001347Hyperreflexia0CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM16721645616244
HP:0001347HP:0001347Hyperreflexia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11728740164010
HP:0001347HP:0001347Hyperreflexia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11838740164010
HP:0001347HP:0001347Hyperreflexia0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM111024537609512
HP:0001347HP:0001347Hyperreflexia0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM113024537609512
HP:0001347HP:0001347Hyperreflexia0CIT CL E G H111132512ORPHA13191985605629
HP:0001347HP:0001347Hyperreflexia0CIT CL E G H111132512ORPHA13291985605629
HP:0001347HP:0001347Hyperreflexia0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13191985605629
HP:0001347HP:0001347Hyperreflexia0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM13291985605629
HP:0001347HP:0001347Hyperreflexia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0001347HP:0001347Hyperreflexia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0001347HP:0001347Hyperreflexia0CLP1 CL E G H10978411493ORPHA14016999608757
HP:0001347HP:0001347Hyperreflexia0CLP1 CL E G H10978411493ORPHA14916999608757
HP:0001347HP:0001347Hyperreflexia0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001347HP:0001347Hyperreflexia0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001347HP:0001347Hyperreflexia0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM11588011602346
HP:0001347HP:0001347Hyperreflexia0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12168011602346
HP:0001347HP:0001347Hyperreflexia0COG4 CL E G H25839263501ORPHA122118620606976
HP:0001347HP:0001347Hyperreflexia0COG4 CL E G H25839263501ORPHA124718620606976
HP:0001347HP:0001347Hyperreflexia0COPB2 CL E G H92762512ORPHA1512232606990
HP:0001347HP:0001347Hyperreflexia0COPB2 CL E G H92762512ORPHA1632232606990
HP:0001347HP:0001347Hyperreflexia0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM136716812606980
HP:0001347HP:0001347Hyperreflexia0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM143516812606980
HP:0001347HP:0001347Hyperreflexia0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM112725302612837
HP:0001347HP:0001347Hyperreflexia0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM116425302612837
HP:0001347HP:0001347Hyperreflexia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0001347HP:0001347Hyperreflexia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0001347HP:0001347Hyperreflexia0COX15 CL E G H1355255241ORPHA12162263603646
HP:0001347HP:0001347Hyperreflexia0COX15 CL E G H1355255241ORPHA12332263603646
HP:0001347HP:0001347Hyperreflexia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0001347HP:0001347Hyperreflexia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0001347HP:0001347Hyperreflexia0CPT1C CL E G H126129444099ORPHA19918540608846
HP:0001347HP:0001347Hyperreflexia0CPT1C CL E G H126129444099ORPHA111618540608846
HP:0001347HP:0001347Hyperreflexia0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM19918540608846
HP:0001347HP:0001347Hyperreflexia0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM111618540608846
HP:0001347HP:0001347Hyperreflexia0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM1652342600184
HP:0001347HP:0001347Hyperreflexia0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM11032342600184
HP:0001347HP:0001347Hyperreflexia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110122348600140
HP:0001347HP:0001347Hyperreflexia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM110712348600140
HP:0001347HP:0001347Hyperreflexia0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM13292433164770
HP:0001347HP:0001347Hyperreflexia0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM14252433164770
HP:0001347HP:0001347Hyperreflexia0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1902510114025
HP:0001347HP:0001347Hyperreflexia0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1932510114025
HP:0001347HP:0001347Hyperreflexia0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11292531603539
HP:0001347HP:0001347Hyperreflexia0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11402531603539
HP:0001347HP:0001347Hyperreflexia0CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM18413760606323
HP:0001347HP:0001347Hyperreflexia0CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM117513760606323
HP:0001347HP:0001347Hyperreflexia0CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0001347HP:0001347Hyperreflexia0CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0001347HP:0001347Hyperreflexia0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM12392652603711
HP:0001347HP:0001347Hyperreflexia0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM12952652603711
HP:0001347HP:0001347Hyperreflexia0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0001347Hyperreflexia0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM123625538610956
HP:0001347HP:0001347Hyperreflexia0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM126625538610956
HP:0001347HP:0001347Hyperreflexia0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM12202719107930
HP:0001347HP:0001347Hyperreflexia0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM13002719107930
HP:0001347HP:0001347Hyperreflexia0DDHD1 CL E G H80821101008ORPHA122619714614603
HP:0001347HP:0001347Hyperreflexia0DDHD1 CL E G H80821101008ORPHA128019714614603
HP:0001347HP:0001347Hyperreflexia0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM122619714614603
HP:0001347HP:0001347Hyperreflexia0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM128019714614603
HP:0001347HP:0001347Hyperreflexia0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM119229106615003
HP:0001347HP:0001347Hyperreflexia0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM123029106615003
HP:0001347HP:0001347Hyperreflexia0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM15919344617278
HP:0001347HP:0001347Hyperreflexia0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM17719344617278
HP:0001347HP:0001347Hyperreflexia0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0001347HP:0001347Hyperreflexia0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0001347HP:0001347Hyperreflexia0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11682896608770
HP:0001347HP:0001347Hyperreflexia0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11992896608770
HP:0001347HP:0001347Hyperreflexia0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM17492976126375
HP:0001347HP:0001347Hyperreflexia0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM18322976126375
HP:0001347HP:0001347Hyperreflexia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM11992995191350
HP:0001347HP:0001347Hyperreflexia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM12332995191350
HP:0001347HP:0001347Hyperreflexia0DSTYK CL E G H25778101003ORPHA17529043612666
HP:0001347HP:0001347Hyperreflexia0DSTYK CL E G H25778101003ORPHA18629043612666
HP:0001347HP:0001347Hyperreflexia0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM17529043612666
HP:0001347HP:0001347Hyperreflexia0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM18629043612666
HP:0001347HP:0001347Hyperreflexia0ECHS1 CL E G H1892255241ORPHA12413151602292
HP:0001347HP:0001347Hyperreflexia0ECHS1 CL E G H1892255241ORPHA13013151602292
HP:0001347HP:0001347Hyperreflexia0EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0001347HP:0001347Hyperreflexia0EIF2S3 CL E G H196885282ORPHA11963267300161
HP:0001347HP:0001347Hyperreflexia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0001347HP:0001347Hyperreflexia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0001347HP:0001347Hyperreflexia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0001347HP:0001347Hyperreflexia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0001347HP:0001347Hyperreflexia0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM117814415605512
HP:0001347HP:0001347Hyperreflexia0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM121314415605512
HP:0001347HP:0001347Hyperreflexia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM16783373602700
HP:0001347HP:0001347Hyperreflexia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM17313373602700
HP:0001347HP:0001347Hyperreflexia0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11063433126380
HP:0001347HP:0001347Hyperreflexia0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11103433126380
HP:0001347HP:0001347Hyperreflexia0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0001347HP:0001347Hyperreflexia0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0001347HP:0001347Hyperreflexia0ERLIN2 CL E G H11160247604ORPHA11381356611605
HP:0001347HP:0001347Hyperreflexia0ERLIN2 CL E G H11160247604ORPHA11471356611605
HP:0001347HP:0001347Hyperreflexia0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11381356611605
HP:0001347HP:0001347Hyperreflexia0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11471356611605
HP:0001347HP:0001347Hyperreflexia0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM116117944606489
HP:0001347HP:0001347Hyperreflexia0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM117517944606489
HP:0001347HP:0001347Hyperreflexia0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM1489137606180
HP:0001347HP:0001347Hyperreflexia0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11089137606180
HP:0001347HP:0001347Hyperreflexia0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA13673519601653
HP:0001347HP:0001347Hyperreflexia0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA14043519601653
HP:0001347HP:0001347Hyperreflexia0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM122524587610531
HP:0001347HP:0001347Hyperreflexia0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM125124587610531
HP:0001347HP:0001347Hyperreflexia0FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM136121062611592
HP:0001347HP:0001347Hyperreflexia0FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM142921062611592
HP:0001347HP:0001347Hyperreflexia0FBXO7 CL E G H25793171695ORPHA116113586605648
HP:0001347HP:0001347Hyperreflexia0FBXO7 CL E G H25793171695ORPHA118313586605648
HP:0001347HP:0001347Hyperreflexia0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM116113586605648
HP:0001347HP:0001347Hyperreflexia0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM118313586605648
HP:0001347HP:0001347Hyperreflexia0FOXRED1 CL E G H55572255241ORPHA121026927613622
HP:0001347HP:0001347Hyperreflexia0FOXRED1 CL E G H55572255241ORPHA123126927613622
HP:0001347HP:0001347Hyperreflexia0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM131829007300838
HP:0001347HP:0001347Hyperreflexia0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM133629007300838
HP:0001347HP:0001347Hyperreflexia0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11093999134790
HP:0001347HP:0001347Hyperreflexia0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11383999134790
HP:0001347HP:0001347Hyperreflexia0FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA13234010137070
HP:0001347HP:0001347Hyperreflexia0FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA13394010137070
HP:0001347HP:0001347Hyperreflexia0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11414092605363
HP:0001347HP:0001347Hyperreflexia0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM11624092605363
HP:0001347HP:0001347Hyperreflexia0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM13904136601240
HP:0001347HP:0001347Hyperreflexia0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM14434136601240
HP:0001347HP:0001347Hyperreflexia0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15334137605379
HP:0001347HP:0001347Hyperreflexia0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15944137605379
HP:0001347HP:0001347Hyperreflexia0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM12614177606463
HP:0001347HP:0001347Hyperreflexia0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM12694177606463
HP:0001347HP:0001347Hyperreflexia0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM12574193600225
HP:0001347HP:0001347Hyperreflexia0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM13154193600225
HP:0001347HP:0001347Hyperreflexia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11514208238330
HP:0001347HP:0001347Hyperreflexia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11574208238330
HP:0001347HP:0001347Hyperreflexia0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM138513780606639
HP:0001347HP:0001347Hyperreflexia0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM143213780606639
HP:0001347HP:0001347Hyperreflexia0GJA1 CL E G H26972710Hm syndromeORPHA11694274121014
HP:0001347HP:0001347Hyperreflexia0GJA1 CL E G H26972710Hm syndromeORPHA11914274121014
HP:0001347HP:0001347Hyperreflexia0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM117417494608803
HP:0001347HP:0001347Hyperreflexia0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM122117494608803
HP:0001347HP:0001347Hyperreflexia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM112744313238300
HP:0001347HP:0001347Hyperreflexia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM115234313238300
HP:0001347HP:0001347Hyperreflexia0GLRA1 CL E G H27413197Lateral body wall defectORPHA12994326138491
HP:0001347HP:0001347Hyperreflexia0GLRA1 CL E G H27413197Lateral body wall defectORPHA13424326138491
HP:0001347HP:0001347Hyperreflexia0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM11574329138492
HP:0001347HP:0001347Hyperreflexia0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM12394329138492
HP:0001347HP:0001347Hyperreflexia0GLRB CL E G H27433197Lateral body wall defectORPHA11574329138492
HP:0001347HP:0001347Hyperreflexia0GLRB CL E G H27433197Lateral body wall defectORPHA12394329138492
HP:0001347HP:0001347Hyperreflexia0GLRX5 CL E G H51218401866ORPHA16020134609588
HP:0001347HP:0001347Hyperreflexia0GLRX5 CL E G H51218401866ORPHA16820134609588
HP:0001347HP:0001347Hyperreflexia0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM16020134609588
HP:0001347HP:0001347Hyperreflexia0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM16820134609588
HP:0001347HP:0001347Hyperreflexia0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM11924341138290
HP:0001347HP:0001347Hyperreflexia0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12074341138290
HP:0001347HP:0001347Hyperreflexia0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM14924247610516
HP:0001347HP:0001347Hyperreflexia0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM16724247610516
HP:0001347HP:0001347Hyperreflexia0GM2A CL E G H2760309246ORPHA11424367613109
HP:0001347HP:0001347Hyperreflexia0GM2A CL E G H2760309246ORPHA11534367613109
HP:0001347HP:0001347Hyperreflexia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11424367613109
HP:0001347HP:0001347Hyperreflexia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11534367613109
HP:0001347HP:0001347Hyperreflexia0GNAQ CL E G H27763205LBWD syndromeORPHA1744390600998
HP:0001347HP:0001347Hyperreflexia0GNAQ CL E G H27763205LBWD syndromeORPHA1754390600998
HP:0001347HP:0001347Hyperreflexia0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0001347HP:0001347Hyperreflexia0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0001347HP:0001347Hyperreflexia0GPHN CL E G H102433197Lateral body wall defectORPHA127615465603930
HP:0001347HP:0001347Hyperreflexia0GPHN CL E G H102433197Lateral body wall defectORPHA137415465603930
HP:0001347HP:0001347Hyperreflexia0GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM127615465603930
HP:0001347HP:0001347Hyperreflexia0GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM137415465603930
HP:0001347HP:0001347Hyperreflexia0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17418062138210
HP:0001347HP:0001347Hyperreflexia0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17618062138210
HP:0001347HP:0001347Hyperreflexia0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM17418062138210
HP:0001347HP:0001347Hyperreflexia0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM17618062138210
HP:0001347HP:0001347Hyperreflexia0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15314584138249
HP:0001347HP:0001347Hyperreflexia0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15874584138249
HP:0001347HP:0001347Hyperreflexia0GRM1 CL E G H2911324262ORPHA11864593604473
HP:0001347HP:0001347Hyperreflexia0GRM1 CL E G H2911324262ORPHA11934593604473
HP:0001347HP:0001347Hyperreflexia0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11864593604473
HP:0001347HP:0001347Hyperreflexia0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11934593604473
HP:0001347HP:0001347Hyperreflexia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11594659601679
HP:0001347HP:0001347Hyperreflexia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11604659601679
HP:0001347HP:0001347Hyperreflexia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12114661604318
HP:0001347HP:0001347Hyperreflexia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12134661604318
HP:0001347HP:0001347Hyperreflexia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0001347HP:0001347Hyperreflexia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0001347HP:0001347Hyperreflexia0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13614879606873
HP:0001347HP:0001347Hyperreflexia0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13974879606873
HP:0001347HP:0001347Hyperreflexia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13065157308000
HP:0001347HP:0001347Hyperreflexia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13205157308000
HP:0001347HP:0001347Hyperreflexia0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0001347HP:0001347Hyperreflexia0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0001347HP:0001347Hyperreflexia0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11575261118190
HP:0001347HP:0001347Hyperreflexia0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM11815261118190
HP:0001347HP:0001347Hyperreflexia0HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM11575261118190
HP:0001347HP:0001347Hyperreflexia0HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM11815261118190
HP:0001347HP:0001347Hyperreflexia0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11649476602194
HP:0001347HP:0001347Hyperreflexia0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11969476602194
HP:0001347HP:0001347Hyperreflexia0HTT CL E G H3064248111ORPHA11454851613004
HP:0001347HP:0001347Hyperreflexia0HTT CL E G H3064248111ORPHA13934851613004
HP:0001347HP:0001347Hyperreflexia0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0001347HP:0001347Hyperreflexia0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0001347HP:0001347Hyperreflexia0IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM114027302615316
HP:0001347HP:0001347Hyperreflexia0IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM116127302615316
HP:0001347HP:0001347Hyperreflexia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA146621474613037
HP:0001347HP:0001347Hyperreflexia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA155921474613037
HP:0001347HP:0001347Hyperreflexia0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM13528660611006
HP:0001347HP:0001347Hyperreflexia0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM13728660611006
HP:0001347HP:0001347Hyperreflexia0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM13719857615317
HP:0001347HP:0001347Hyperreflexia0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM14519857615317
HP:0001347HP:0001347Hyperreflexia0ITPR1 CL E G H370898769ORPHA18956180147265
HP:0001347HP:0001347Hyperreflexia0ITPR1 CL E G H370898769ORPHA19696180147265
HP:0001347HP:0001347Hyperreflexia0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM18956180147265
HP:0001347HP:0001347Hyperreflexia0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM19696180147265
HP:0001347HP:0001347Hyperreflexia0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM116415532606871
HP:0001347HP:0001347Hyperreflexia0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM118415532606871
HP:0001347HP:0001347Hyperreflexia0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112214203605268
HP:0001347HP:0001347Hyperreflexia0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112314203605268
HP:0001347HP:0001347Hyperreflexia0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM13906218176260
HP:0001347HP:0001347Hyperreflexia0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM14386218176260
HP:0001347HP:0001347Hyperreflexia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11266235176264
HP:0001347HP:0001347Hyperreflexia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11666235176264
HP:0001347HP:0001347Hyperreflexia0KCND3 CL E G H375298772ORPHA12336239605411
HP:0001347HP:0001347Hyperreflexia0KCND3 CL E G H375298772ORPHA12666239605411
HP:0001347HP:0001347Hyperreflexia0KCNJ6 CL E G H3763435628ORPHA11016267600877
HP:0001347HP:0001347Hyperreflexia0KCNJ6 CL E G H3763435628ORPHA11156267600877
HP:0001347HP:0001347Hyperreflexia0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11016267600877
HP:0001347HP:0001347Hyperreflexia0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11156267600877
HP:0001347HP:0001347Hyperreflexia0KDM5C CL E G H824285279ORPHA148111114314690
HP:0001347HP:0001347Hyperreflexia0KDM5C CL E G H824285279ORPHA150911114314690
HP:0001347HP:0001347Hyperreflexia0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM114629508615759
HP:0001347HP:0001347Hyperreflexia0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM122229508615759
HP:0001347HP:0001347Hyperreflexia0KIF14 CL E G H99282512ORPHA113519181611279
HP:0001347HP:0001347Hyperreflexia0KIF14 CL E G H99282512ORPHA115119181611279
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H5472836ORPHA11441888601255
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H5472836ORPHA11735888601255
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM11441888601255
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM11735888601255
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM11441888601255
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM11735888601255
HP:0001347HP:0001347Hyperreflexia0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0001347HP:0001347Hyperreflexia0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0001347HP:0001347Hyperreflexia0KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM13696323602821
HP:0001347HP:0001347Hyperreflexia0KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM15486323602821
HP:0001347HP:0001347Hyperreflexia0KNL1 CL E G H570822512ORPHA131024054609173
HP:0001347HP:0001347Hyperreflexia0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA13316407190070
HP:0001347HP:0001347Hyperreflexia0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA13416407190070
HP:0001347HP:0001347Hyperreflexia0L1CAM CL E G H38972466ORPHA16456470308840
HP:0001347HP:0001347Hyperreflexia0L1CAM CL E G H38972466ORPHA16956470308840
HP:0001347HP:0001347Hyperreflexia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11966613601329
HP:0001347HP:0001347Hyperreflexia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11976613601329
HP:0001347HP:0001347Hyperreflexia0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM121530922610350
HP:0001347HP:0001347Hyperreflexia0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM121830922610350
HP:0001347HP:0001347Hyperreflexia0LIPT1 CL E G H51601255241ORPHA17329569610284
HP:0001347HP:0001347Hyperreflexia0LIPT1 CL E G H51601255241ORPHA19029569610284
HP:0001347HP:0001347Hyperreflexia0LMNB1 CL E G H400199027ORPHA11296637150340
HP:0001347HP:0001347Hyperreflexia0LMNB1 CL E G H400199027ORPHA11516637150340
HP:0001347HP:0001347Hyperreflexia0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11296637150340
HP:0001347HP:0001347Hyperreflexia0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11516637150340
HP:0001347HP:0001347Hyperreflexia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM16536826609458
HP:0001347HP:0001347Hyperreflexia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM17906826609458
HP:0001347HP:0001347Hyperreflexia0MARS2 CL E G H92935314603ORPHA19525133609728
HP:0001347HP:0001347Hyperreflexia0MARS2 CL E G H92935314603ORPHA110925133609728
HP:0001347HP:0001347Hyperreflexia0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM19525133609728
HP:0001347HP:0001347Hyperreflexia0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM110925133609728
HP:0001347HP:0001347Hyperreflexia0MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM12316903610550
HP:0001347HP:0001347Hyperreflexia0MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM12576903610550
HP:0001347HP:0001347Hyperreflexia0MATR3 CL E G H9782600ORPHA12496912164015
HP:0001347HP:0001347Hyperreflexia0MATR3 CL E G H9782600ORPHA12996912164015
HP:0001347HP:0001347Hyperreflexia0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM12496912164015
HP:0001347HP:0001347Hyperreflexia0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM12996912164015
HP:0001347HP:0001347Hyperreflexia0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM14356936609010
HP:0001347HP:0001347Hyperreflexia0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM15226936609010
HP:0001347HP:0001347Hyperreflexia0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM14106937609014
HP:0001347HP:0001347Hyperreflexia0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM14796937609014
HP:0001347HP:0001347Hyperreflexia0MCOLN1 CL E G H57192578Akesson syndromeORPHA141813356605248
HP:0001347HP:0001347Hyperreflexia0MCOLN1 CL E G H57192578Akesson syndromeORPHA144813356605248
HP:0001347HP:0001347Hyperreflexia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM141813356605248
HP:0001347HP:0001347Hyperreflexia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM144813356605248
HP:0001347HP:0001347Hyperreflexia0MCPH1 CL E G H796482512ORPHA14976954607117
HP:0001347HP:0001347Hyperreflexia0MCPH1 CL E G H796482512ORPHA15686954607117
HP:0001347HP:0001347Hyperreflexia0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM116036990300005
HP:0001347HP:0001347Hyperreflexia0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM116846990300005
HP:0001347HP:0001347Hyperreflexia0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM116036990300005
HP:0001347HP:0001347Hyperreflexia0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM116846990300005
HP:0001347HP:0001347Hyperreflexia0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM16019691608205
HP:0001347HP:0001347Hyperreflexia0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM17319691608205
HP:0001347HP:0001347Hyperreflexia0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM110224858614785
HP:0001347HP:0001347Hyperreflexia0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111324858614785
HP:0001347HP:0001347Hyperreflexia0MFSD2A CL E G H848792512ORPHA14525897614397
HP:0001347HP:0001347Hyperreflexia0MFSD2A CL E G H848792512ORPHA15825897614397
HP:0001347HP:0001347Hyperreflexia0MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM14525897614397
HP:0001347HP:0001347Hyperreflexia0MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM15825897614397
HP:0001347HP:0001347Hyperreflexia0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0001347HP:0001347Hyperreflexia0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0001347HP:0001347Hyperreflexia0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0001347Hyperreflexia0MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0001347Hyperreflexia0MTFMT CL E G H123263255241ORPHA113229666611766
HP:0001347HP:0001347Hyperreflexia0MTFMT CL E G H123263255241ORPHA116229666611766
HP:0001347HP:0001347Hyperreflexia0MTPAP CL E G H55149254343ORPHA114525532613669
HP:0001347HP:0001347Hyperreflexia0MTPAP CL E G H55149254343ORPHA118025532613669
HP:0001347HP:0001347Hyperreflexia0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM114525532613669
HP:0001347HP:0001347Hyperreflexia0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM118025532613669
HP:0001347HP:0001347Hyperreflexia0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM11577631104170
HP:0001347HP:0001347Hyperreflexia0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM11697631104170
HP:0001347HP:0001347Hyperreflexia0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM157319082611549
HP:0001347HP:0001347Hyperreflexia0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM159019082611549
HP:0001347HP:0001347Hyperreflexia0NCAPD3 CL E G H233102512ORPHA113428952609276
HP:0001347HP:0001347Hyperreflexia0NCAPD3 CL E G H233102512ORPHA113528952609276
HP:0001347HP:0001347Hyperreflexia0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1132017619609449
HP:0001347HP:0001347Hyperreflexia0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1137017619609449
HP:0001347HP:0001347Hyperreflexia0NDUFA10 CL E G H4705255241ORPHA13367684603835
HP:0001347HP:0001347Hyperreflexia0NDUFA10 CL E G H4705255241ORPHA13597684603835
HP:0001347HP:0001347Hyperreflexia0NDUFA12 CL E G H55967255241ORPHA15323987614530
HP:0001347HP:0001347Hyperreflexia0NDUFA12 CL E G H55967255241ORPHA16423987614530
HP:0001347HP:0001347Hyperreflexia0NDUFA13 CL E G H51079255241ORPHA11817194609435
HP:0001347HP:0001347Hyperreflexia0NDUFA13 CL E G H51079255241ORPHA11917194609435
HP:0001347HP:0001347Hyperreflexia0NDUFA2 CL E G H4695255241ORPHA1717685602137
HP:0001347HP:0001347Hyperreflexia0NDUFA2 CL E G H4695255241ORPHA1747685602137
HP:0001347HP:0001347Hyperreflexia0NDUFA4 CL E G H4697255241ORPHA1707687603833
HP:0001347HP:0001347Hyperreflexia0NDUFA4 CL E G H4697255241ORPHA1737687603833
HP:0001347HP:0001347Hyperreflexia0NDUFA9 CL E G H4704255241ORPHA11497693603834
HP:0001347HP:0001347Hyperreflexia0NDUFA9 CL E G H4704255241ORPHA11727693603834
HP:0001347HP:0001347Hyperreflexia0NDUFAF2 CL E G H91942255241ORPHA110228086609653
HP:0001347HP:0001347Hyperreflexia0NDUFAF2 CL E G H91942255241ORPHA110928086609653
HP:0001347HP:0001347Hyperreflexia0NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM17829918612911
HP:0001347HP:0001347Hyperreflexia0NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM18129918612911
HP:0001347HP:0001347Hyperreflexia0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM110321034611776
HP:0001347HP:0001347Hyperreflexia0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM110921034611776
HP:0001347HP:0001347Hyperreflexia0NDUFAF5 CL E G H79133255241ORPHA122115899612360
HP:0001347HP:0001347Hyperreflexia0NDUFAF5 CL E G H79133255241ORPHA122815899612360
HP:0001347HP:0001347Hyperreflexia0NDUFAF6 CL E G H137682255241ORPHA116628625612392
HP:0001347HP:0001347Hyperreflexia0NDUFAF6 CL E G H137682255241ORPHA118528625612392
HP:0001347HP:0001347Hyperreflexia0NDUFS1 CL E G H4719255241ORPHA12637707157655
HP:0001347HP:0001347Hyperreflexia0NDUFS1 CL E G H4719255241ORPHA13017707157655
HP:0001347HP:0001347Hyperreflexia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM12637707157655
HP:0001347HP:0001347Hyperreflexia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13017707157655
HP:0001347HP:0001347Hyperreflexia0NDUFS2 CL E G H4720255241ORPHA11397708602985
HP:0001347HP:0001347Hyperreflexia0NDUFS2 CL E G H4720255241ORPHA11607708602985
HP:0001347HP:0001347Hyperreflexia0NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM11397708602985
HP:0001347HP:0001347Hyperreflexia0NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM11607708602985
HP:0001347HP:0001347Hyperreflexia0NDUFS3 CL E G H4722255241ORPHA1777710603846
HP:0001347HP:0001347Hyperreflexia0NDUFS3 CL E G H4722255241ORPHA1917710603846
HP:0001347HP:0001347Hyperreflexia0NDUFS4 CL E G H4724255241ORPHA1977711602694
HP:0001347HP:0001347Hyperreflexia0NDUFS4 CL E G H4724255241ORPHA11017711602694
HP:0001347HP:0001347Hyperreflexia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM1977711602694
HP:0001347HP:0001347Hyperreflexia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11017711602694
HP:0001347HP:0001347Hyperreflexia0NDUFS7 CL E G H374291255241ORPHA11307714601825
HP:0001347HP:0001347Hyperreflexia0NDUFS7 CL E G H374291255241ORPHA11427714601825
HP:0001347HP:0001347Hyperreflexia0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM11307714601825
HP:0001347HP:0001347Hyperreflexia0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM11427714601825
HP:0001347HP:0001347Hyperreflexia0NDUFS8 CL E G H4728255241ORPHA1827715602141
HP:0001347HP:0001347Hyperreflexia0NDUFS8 CL E G H4728255241ORPHA1887715602141
HP:0001347HP:0001347Hyperreflexia0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1827715602141
HP:0001347HP:0001347Hyperreflexia0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1887715602141
HP:0001347HP:0001347Hyperreflexia0NDUFV1 CL E G H4723255241ORPHA11747716161015
HP:0001347HP:0001347Hyperreflexia0NDUFV1 CL E G H4723255241ORPHA12007716161015
HP:0001347HP:0001347Hyperreflexia0NDUFV2 CL E G H4729255241ORPHA11637717600532
HP:0001347HP:0001347Hyperreflexia0NDUFV2 CL E G H4729255241ORPHA11807717600532
HP:0001347HP:0001347Hyperreflexia0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11157758608272
HP:0001347HP:0001347Hyperreflexia0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11347758608272
HP:0001347HP:0001347Hyperreflexia0NKX6-2 CL E G H84504527497ORPHA111919321605955
HP:0001347HP:0001347Hyperreflexia0NKX6-2 CL E G H84504527497ORPHA115119321605955
HP:0001347HP:0001347Hyperreflexia0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12127989164790
HP:0001347HP:0001347Hyperreflexia0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12267989164790
HP:0001347HP:0001347Hyperreflexia0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1115414234606681
HP:0001347HP:0001347Hyperreflexia0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1124014234606681
HP:0001347HP:0001347Hyperreflexia0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM138625994610916
HP:0001347HP:0001347Hyperreflexia0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM140125994610916
HP:0001347HP:0001347Hyperreflexia0NT5C2 CL E G H22978320396ORPHA11388022600417
HP:0001347HP:0001347Hyperreflexia0NT5C2 CL E G H22978320396ORPHA11488022600417
HP:0001347HP:0001347Hyperreflexia0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM11388022600417
HP:0001347HP:0001347Hyperreflexia0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM11488022600417
HP:0001347HP:0001347Hyperreflexia0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM11168032600456
HP:0001347HP:0001347Hyperreflexia0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM12028032600456
HP:0001347HP:0001347Hyperreflexia0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM122220278613621
HP:0001347HP:0001347Hyperreflexia0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123120278613621
HP:0001347HP:0001347Hyperreflexia0NUP62 CL E G H23636225154ORPHA1438066605815
HP:0001347HP:0001347Hyperreflexia0NUP62 CL E G H23636225154ORPHA1778066605815
HP:0001347HP:0001347Hyperreflexia0OCLN CL E G H1005066581229ORPHA1888104602876
HP:0001347HP:0001347Hyperreflexia0OCLN CL E G H1005066581229ORPHA1968104602876
HP:0001347HP:0001347Hyperreflexia0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM15988140605290
HP:0001347HP:0001347Hyperreflexia0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM17398140605290
HP:0001347HP:0001347Hyperreflexia0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM13728142606580
HP:0001347HP:0001347Hyperreflexia0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM14018142606580
HP:0001347HP:0001347Hyperreflexia0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM111648582612349
HP:0001347HP:0001347Hyperreflexia0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM112158582612349
HP:0001347HP:0001347Hyperreflexia0PANK2 CL E G H80025216866ORPHA126315894606157
HP:0001347HP:0001347Hyperreflexia0PANK2 CL E G H80025216866ORPHA133115894606157
HP:0001347HP:0001347Hyperreflexia0PANK2 CL E G H80025216873ORPHA126315894606157
HP:0001347HP:0001347Hyperreflexia0PANK2 CL E G H80025216873ORPHA133115894606157
HP:0001347HP:0001347Hyperreflexia0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA1748615167411
HP:0001347HP:0001347Hyperreflexia0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA11698615167411
HP:0001347HP:0001347Hyperreflexia0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM1908657605622
HP:0001347HP:0001347Hyperreflexia0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM11708657605622
HP:0001347HP:0001347Hyperreflexia0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM117313406604918
HP:0001347HP:0001347Hyperreflexia0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1110013406604918
HP:0001347HP:0001347Hyperreflexia0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1938800190040
HP:0001347HP:0001347Hyperreflexia0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1958800190040
HP:0001347HP:0001347Hyperreflexia0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM12838804173410
HP:0001347HP:0001347Hyperreflexia0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13048804173410
HP:0001347HP:0001347Hyperreflexia0PDHA1 CL E G H5160255241ORPHA15308806300502
HP:0001347HP:0001347Hyperreflexia0PDHA1 CL E G H5160255241ORPHA15388806300502
HP:0001347HP:0001347Hyperreflexia0PDYN CL E G H5173101108ORPHA11448820131340
HP:0001347HP:0001347Hyperreflexia0PDYN CL E G H5173101108ORPHA11598820131340
HP:0001347HP:0001347Hyperreflexia0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11448820131340
HP:0001347HP:0001347Hyperreflexia0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11598820131340
HP:0001347HP:0001347Hyperreflexia0PET100 CL E G H100131801255241ORPHA14340038614770
HP:0001347HP:0001347Hyperreflexia0PET100 CL E G H100131801255241ORPHA15140038614770
HP:0001347HP:0001347Hyperreflexia0PEX1 CL E G H518944MYBPC1-related conditionORPHA17938850602136
HP:0001347HP:0001347Hyperreflexia0PEX1 CL E G H518944MYBPC1-related conditionORPHA19518850602136
HP:0001347HP:0001347Hyperreflexia0PEX10 CL E G H519244MYBPC1-related conditionORPHA14808851602859
HP:0001347HP:0001347Hyperreflexia0PEX10 CL E G H519244MYBPC1-related conditionORPHA15788851602859
HP:0001347HP:0001347Hyperreflexia0PEX11B CL E G H879944MYBPC1-related conditionORPHA12848853603867
HP:0001347HP:0001347Hyperreflexia0PEX11B CL E G H879944MYBPC1-related conditionORPHA13328853603867
HP:0001347HP:0001347Hyperreflexia0PEX12 CL E G H519344MYBPC1-related conditionORPHA12458854601758
HP:0001347HP:0001347Hyperreflexia0PEX12 CL E G H519344MYBPC1-related conditionORPHA13208854601758
HP:0001347HP:0001347Hyperreflexia0PEX13 CL E G H519444MYBPC1-related conditionORPHA12348855601789
HP:0001347HP:0001347Hyperreflexia0PEX13 CL E G H519444MYBPC1-related conditionORPHA13428855601789
HP:0001347HP:0001347Hyperreflexia0PEX14 CL E G H519544MYBPC1-related conditionORPHA12348856601791
HP:0001347HP:0001347Hyperreflexia0PEX14 CL E G H519544MYBPC1-related conditionORPHA13118856601791
HP:0001347HP:0001347Hyperreflexia0PEX16 CL E G H940944MYBPC1-related conditionORPHA12038857603360
HP:0001347HP:0001347Hyperreflexia0PEX16 CL E G H940944MYBPC1-related conditionORPHA12828857603360
HP:0001347HP:0001347Hyperreflexia0PEX19 CL E G H582444MYBPC1-related conditionORPHA11819713600279
HP:0001347HP:0001347Hyperreflexia0PEX19 CL E G H582444MYBPC1-related conditionORPHA12499713600279
HP:0001347HP:0001347Hyperreflexia0PEX2 CL E G H582844MYBPC1-related conditionORPHA12549717170993
HP:0001347HP:0001347Hyperreflexia0PEX2 CL E G H582844MYBPC1-related conditionORPHA13199717170993
HP:0001347HP:0001347Hyperreflexia0PEX26 CL E G H5567044MYBPC1-related conditionORPHA131522965608666
HP:0001347HP:0001347Hyperreflexia0PEX26 CL E G H5567044MYBPC1-related conditionORPHA139222965608666
HP:0001347HP:0001347Hyperreflexia0PEX3 CL E G H850444MYBPC1-related conditionORPHA11588858603164
HP:0001347HP:0001347Hyperreflexia0PEX3 CL E G H850444MYBPC1-related conditionORPHA12198858603164
HP:0001347HP:0001347Hyperreflexia0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM11588858603164
HP:0001347HP:0001347Hyperreflexia0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM12198858603164
HP:0001347HP:0001347Hyperreflexia0PEX5 CL E G H583044MYBPC1-related conditionORPHA14069719600414
HP:0001347HP:0001347Hyperreflexia0PEX5 CL E G H583044MYBPC1-related conditionORPHA15639719600414
HP:0001347HP:0001347Hyperreflexia0PEX6 CL E G H519044MYBPC1-related conditionORPHA16458859601498
HP:0001347HP:0001347Hyperreflexia0PEX6 CL E G H519044MYBPC1-related conditionORPHA18558859601498
HP:0001347HP:0001347Hyperreflexia0PGAP1 CL E G H80055401820ORPHA117425712611655
HP:0001347HP:0001347Hyperreflexia0PGAP1 CL E G H80055401820ORPHA120925712611655
HP:0001347HP:0001347Hyperreflexia0PHC1 CL E G H19112512ORPHA1823182602978
HP:0001347HP:0001347Hyperreflexia0PHC1 CL E G H19112512ORPHA1873182602978
HP:0001347HP:0001347Hyperreflexia0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM13868957311770
HP:0001347HP:0001347Hyperreflexia0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14078957311770
HP:0001347HP:0001347Hyperreflexia0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM16518967606097
HP:0001347HP:0001347Hyperreflexia0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM17518967606097
HP:0001347HP:0001347Hyperreflexia0PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM1763046605938
HP:0001347HP:0001347Hyperreflexia0PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11173046605938
HP:0001347HP:0001347Hyperreflexia0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM123314581608309
HP:0001347HP:0001347Hyperreflexia0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM127114581608309
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H8398199351ORPHA14319039603604
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H8398199351ORPHA15139039603604
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM14319039603604
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15139039603604
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM14319039603604
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15139039603604
HP:0001347HP:0001347Hyperreflexia0PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM172715917607120
HP:0001347HP:0001347Hyperreflexia0PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM182615917607120
HP:0001347HP:0001347Hyperreflexia0PLP1 CL E G H535499015ORPHA13359086300401
HP:0001347HP:0001347Hyperreflexia0PLP1 CL E G H535499015ORPHA13659086300401
HP:0001347HP:0001347Hyperreflexia0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13359086300401
HP:0001347HP:0001347Hyperreflexia0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM13659086300401
HP:0001347HP:0001347Hyperreflexia0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM112818667613036
HP:0001347HP:0001347Hyperreflexia0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM113418667613036
HP:0001347HP:0001347Hyperreflexia0PNPLA6 CL E G H10908139480ORPHA166916268603197
HP:0001347HP:0001347Hyperreflexia0PNPLA6 CL E G H10908139480ORPHA180816268603197
HP:0001347HP:0001347Hyperreflexia0PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM166916268603197
HP:0001347HP:0001347Hyperreflexia0PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM180816268603197
HP:0001347HP:0001347Hyperreflexia0POLR3A CL E G H11128447896ORPHA148430074614258
HP:0001347HP:0001347Hyperreflexia0POLR3A CL E G H11128447896ORPHA165430074614258
HP:0001347HP:0001347Hyperreflexia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM148430074614258
HP:0001347HP:0001347Hyperreflexia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM165430074614258
HP:0001347HP:0001347Hyperreflexia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM129730348614366
HP:0001347HP:0001347Hyperreflexia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM132630348614366
HP:0001347HP:0001347Hyperreflexia0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM129730348614366
HP:0001347HP:0001347Hyperreflexia0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM132630348614366
HP:0001347HP:0001347Hyperreflexia0PPP2R2B CL E G H552198762ORPHA1369305604325
HP:0001347HP:0001347Hyperreflexia0PPP2R2B CL E G H552198762ORPHA1389305604325
HP:0001347HP:0001347Hyperreflexia0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1369305604325
HP:0001347HP:0001347Hyperreflexia0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1389305604325
HP:0001347HP:0001347Hyperreflexia0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM12609330300463
HP:0001347HP:0001347Hyperreflexia0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM12659330300463
HP:0001347HP:0001347Hyperreflexia0PRDM8 CL E G H56978324290ORPHA124713993616639
HP:0001347HP:0001347Hyperreflexia0PRDM8 CL E G H56978324290ORPHA132313993616639
HP:0001347HP:0001347Hyperreflexia0PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM124713993616639
HP:0001347HP:0001347Hyperreflexia0PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM132313993616639
HP:0001347HP:0001347Hyperreflexia0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12619402176980
HP:0001347HP:0001347Hyperreflexia0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12719402176980
HP:0001347HP:0001347Hyperreflexia0PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM15768607602544
HP:0001347HP:0001347Hyperreflexia0PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM16208607602544
HP:0001347HP:0001347Hyperreflexia0PRKRA CL E G H8575210571ORPHA11419438603424
HP:0001347HP:0001347Hyperreflexia0PRKRA CL E G H8575210571ORPHA11519438603424
HP:0001347HP:0001347Hyperreflexia0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11419438603424
HP:0001347HP:0001347Hyperreflexia0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11519438603424
HP:0001347HP:0001347Hyperreflexia0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11319449176640
HP:0001347HP:0001347Hyperreflexia0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11469449176640
HP:0001347HP:0001347Hyperreflexia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM13909498176801
HP:0001347HP:0001347Hyperreflexia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM15029498176801
HP:0001347HP:0001347Hyperreflexia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM11649689612719
HP:0001347HP:0001347Hyperreflexia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM11859689612719
HP:0001347HP:0001347Hyperreflexia0PYCR2 CL E G H299202512ORPHA17730262616406
HP:0001347HP:0001347Hyperreflexia0PYCR2 CL E G H299202512ORPHA18930262616406
HP:0001347HP:0001347Hyperreflexia0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM17730262616406
HP:0001347HP:0001347Hyperreflexia0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM18930262616406
HP:0001347HP:0001347Hyperreflexia0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM127017063602536
HP:0001347HP:0001347Hyperreflexia0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM129017063602536
HP:0001347HP:0001347Hyperreflexia0RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0001347Hyperreflexia0RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0001347Hyperreflexia0RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM140621406611524
HP:0001347HP:0001347Hyperreflexia0RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM144921406611524
HP:0001347HP:0001347Hyperreflexia0REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM15917975609347
HP:0001347HP:0001347Hyperreflexia0REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM16717975609347
HP:0001347HP:0001347Hyperreflexia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11749970600404
HP:0001347HP:0001347Hyperreflexia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11759970600404
HP:0001347HP:0001347Hyperreflexia0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM123330220611908
HP:0001347HP:0001347Hyperreflexia0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM132430220611908
HP:0001347HP:0001347Hyperreflexia0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118113429300379
HP:0001347HP:0001347Hyperreflexia0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM118513429300379
HP:0001347HP:0001347Hyperreflexia0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM114724116610330
HP:0001347HP:0001347Hyperreflexia0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM119124116610330
HP:0001347HP:0001347Hyperreflexia0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM179429168610937
HP:0001347HP:0001347Hyperreflexia0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM196429168610937
HP:0001347HP:0001347Hyperreflexia0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA179429168610937
HP:0001347HP:0001347Hyperreflexia0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA196429168610937
HP:0001347HP:0001347Hyperreflexia0RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM115210468603183
HP:0001347HP:0001347Hyperreflexia0RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM117210468603183
HP:0001347HP:0001347Hyperreflexia0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM111428991613516
HP:0001347HP:0001347Hyperreflexia0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM111828991613516
HP:0001347HP:0001347Hyperreflexia0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM111823625611053
HP:0001347HP:0001347Hyperreflexia0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM141223625611053
HP:0001347HP:0001347Hyperreflexia0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1191410519604490
HP:0001347HP:0001347Hyperreflexia0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1208810519604490
HP:0001347HP:0001347Hyperreflexia0SAMD9L CL E G H2192852585ORPHA11381349611170
HP:0001347HP:0001347Hyperreflexia0SAMD9L CL E G H2192852585ORPHA12901349611170
HP:0001347HP:0001347Hyperreflexia0SASS6 CL E G H1637862512ORPHA17625403609321
HP:0001347HP:0001347Hyperreflexia0SASS6 CL E G H1637862512ORPHA17725403609321
HP:0001347HP:0001347Hyperreflexia0SDHA CL E G H6389255241ORPHA1154510680600857
HP:0001347HP:0001347Hyperreflexia0SDHA CL E G H6389255241ORPHA1177810680600857
HP:0001347HP:0001347Hyperreflexia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1154510680600857
HP:0001347HP:0001347Hyperreflexia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1177810680600857
HP:0001347HP:0001347Hyperreflexia0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1154510680600857
HP:0001347HP:0001347Hyperreflexia0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1177810680600857
HP:0001347HP:0001347Hyperreflexia0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM14633867612848
HP:0001347HP:0001347Hyperreflexia0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM15433867612848
HP:0001347HP:0001347Hyperreflexia0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM144210683602690
HP:0001347HP:0001347Hyperreflexia0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM150710683602690
HP:0001347HP:0001347Hyperreflexia0SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM1941445608465
HP:0001347HP:0001347Hyperreflexia0SETX CL E G H23064