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 achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0001347Hyperreflexia0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0001347Hyperreflexia0ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0001347Hyperreflexia0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0001347Hyperreflexia0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0001347Hyperreflexia0ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0001347Hyperreflexia0ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0001347Hyperreflexia0ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0001347Hyperreflexia0ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0001347Hyperreflexia0ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0001347Hyperreflexia0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0001347Hyperreflexia0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0001347Hyperreflexia0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0001347Hyperreflexia0ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0001347Hyperreflexia0AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0001347Hyperreflexia0AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0001347Hyperreflexia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0001347Hyperreflexia0ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0001347Hyperreflexia0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0001347Hyperreflexia0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0001347Hyperreflexia0AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0001347Hyperreflexia0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0001347Hyperreflexia0AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0001347Hyperreflexia0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0001347Hyperreflexia0AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0001347Hyperreflexia0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0001347Hyperreflexia0AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0001347Hyperreflexia0AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0001347Hyperreflexia0AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0001347Hyperreflexia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0001347Hyperreflexia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0001347Hyperreflexia0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0001347Hyperreflexia0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0001347Hyperreflexia0ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0001347Hyperreflexia0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0001347Hyperreflexia0ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0001347Hyperreflexia0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0001347Hyperreflexia0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0001347Hyperreflexia0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0001347Hyperreflexia0ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0001347Hyperreflexia0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0001347Hyperreflexia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0001347Hyperreflexia0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0001347Hyperreflexia0ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0001347Hyperreflexia0ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0001347Hyperreflexia0ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0001347Hyperreflexia0ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0001347Hyperreflexia0ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0001347Hyperreflexia0ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0001347Hyperreflexia0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0001347Hyperreflexia0B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0001347Hyperreflexia0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0001347Hyperreflexia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0001347Hyperreflexia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0001347Hyperreflexia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0001347Hyperreflexia0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0001347Hyperreflexia0C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0001347Hyperreflexia0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0001347Hyperreflexia0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0001347Hyperreflexia0CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0001347Hyperreflexia0CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0001347Hyperreflexia0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0001347Hyperreflexia0CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0001347Hyperreflexia0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0001347Hyperreflexia0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0001347Hyperreflexia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0001347Hyperreflexia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0001347Hyperreflexia0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0001347Hyperreflexia0CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0001347Hyperreflexia0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0001347Hyperreflexia0CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0001347Hyperreflexia0CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0001347Hyperreflexia0CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0001347Hyperreflexia0CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0001347Hyperreflexia0CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0001347Hyperreflexia0CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0001347Hyperreflexia0CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0001347Hyperreflexia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0001347Hyperreflexia0CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0001347Hyperreflexia0CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0001347Hyperreflexia0CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0001347Hyperreflexia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0001347Hyperreflexia0CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0001347Hyperreflexia0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0001347Hyperreflexia0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0001347Hyperreflexia0COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0001347Hyperreflexia0COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0001347Hyperreflexia0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0001347Hyperreflexia0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0001347Hyperreflexia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0001347Hyperreflexia0COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0001347Hyperreflexia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0001347Hyperreflexia0CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0001347Hyperreflexia0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0001347Hyperreflexia0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0001347Hyperreflexia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0001347Hyperreflexia0CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0001347Hyperreflexia0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0001347Hyperreflexia0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0001347Hyperreflexia0CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0001347Hyperreflexia0CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0001347Hyperreflexia0CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
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 Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0001347Hyperreflexia0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0001347Hyperreflexia0DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0001347Hyperreflexia0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0001347Hyperreflexia0DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0001347Hyperreflexia0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0001347Hyperreflexia0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0001347Hyperreflexia0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0001347Hyperreflexia0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0001347Hyperreflexia0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0001347Hyperreflexia0DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0001347Hyperreflexia0DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0001347Hyperreflexia0ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0001347Hyperreflexia0EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0001347Hyperreflexia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0001347Hyperreflexia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0001347Hyperreflexia0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0001347Hyperreflexia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0001347Hyperreflexia0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0001347Hyperreflexia0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0001347Hyperreflexia0ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0001347Hyperreflexia0ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0001347Hyperreflexia0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0001347Hyperreflexia0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0001347Hyperreflexia0EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0001347Hyperreflexia0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0001347Hyperreflexia0FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0001347Hyperreflexia0FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0001347Hyperreflexia0FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0001347Hyperreflexia0FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0001347Hyperreflexia0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0001347Hyperreflexia0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0001347Hyperreflexia0FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0001347Hyperreflexia0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0001347Hyperreflexia0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0001347Hyperreflexia0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0001347Hyperreflexia0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0001347Hyperreflexia0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0001347Hyperreflexia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0001347Hyperreflexia0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0001347Hyperreflexia0GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0001347Hyperreflexia0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0001347Hyperreflexia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0001347Hyperreflexia0GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0001347Hyperreflexia0GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0001347Hyperreflexia0GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0001347Hyperreflexia0GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0001347Hyperreflexia0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0001347Hyperreflexia0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0001347Hyperreflexia0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0001347Hyperreflexia0GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0001347Hyperreflexia0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0001347Hyperreflexia0GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0001347Hyperreflexia0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0001347Hyperreflexia0GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0001347Hyperreflexia0GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0001347Hyperreflexia0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0001347Hyperreflexia0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0001347Hyperreflexia0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0001347Hyperreflexia0GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0001347Hyperreflexia0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0001347Hyperreflexia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0001347Hyperreflexia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0001347Hyperreflexia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0001347Hyperreflexia0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0001347Hyperreflexia0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0001347Hyperreflexia0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0001347Hyperreflexia0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0001347Hyperreflexia0HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0001347Hyperreflexia0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0001347Hyperreflexia0HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0001347Hyperreflexia0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0001347Hyperreflexia0IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0001347Hyperreflexia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0001347Hyperreflexia0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0001347Hyperreflexia0ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0001347Hyperreflexia0ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0001347Hyperreflexia0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0001347Hyperreflexia0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0001347Hyperreflexia0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0001347Hyperreflexia0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0001347Hyperreflexia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0001347Hyperreflexia0KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0001347Hyperreflexia0KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0001347Hyperreflexia0KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0001347Hyperreflexia0KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0001347Hyperreflexia0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0001347Hyperreflexia0KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0001347Hyperreflexia0KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0001347Hyperreflexia0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0001347Hyperreflexia0KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0001347Hyperreflexia0KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0001347Hyperreflexia0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0001347Hyperreflexia0L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0001347Hyperreflexia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0001347Hyperreflexia0LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0001347Hyperreflexia0LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0001347Hyperreflexia0LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0001347Hyperreflexia0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0001347Hyperreflexia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0001347Hyperreflexia0MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0001347Hyperreflexia0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0001347Hyperreflexia0MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0001347Hyperreflexia0MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0001347Hyperreflexia0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0001347Hyperreflexia0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0001347Hyperreflexia0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0001347Hyperreflexia0MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0001347Hyperreflexia0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0001347Hyperreflexia0MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0001347Hyperreflexia0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0001347Hyperreflexia0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0001347Hyperreflexia0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0001347Hyperreflexia0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0001347Hyperreflexia0MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0001347Hyperreflexia0MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0001347Hyperreflexia0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0001347Hyperreflexia0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0001347Hyperreflexia0MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0001347Hyperreflexia0MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0001347Hyperreflexia0MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0001347Hyperreflexia0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0001347Hyperreflexia0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0001347Hyperreflexia0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0001347Hyperreflexia0NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0001347Hyperreflexia0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0001347Hyperreflexia0NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0001347Hyperreflexia0NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0001347Hyperreflexia0NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0001347Hyperreflexia0NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0001347Hyperreflexia0NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0001347Hyperreflexia0NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0001347Hyperreflexia0NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0001347Hyperreflexia0NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0001347Hyperreflexia0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0001347Hyperreflexia0NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0001347Hyperreflexia0NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0001347Hyperreflexia0NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0001347Hyperreflexia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0001347Hyperreflexia0NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0001347Hyperreflexia0NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0001347Hyperreflexia0NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0001347Hyperreflexia0NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0001347Hyperreflexia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0001347Hyperreflexia0NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0001347Hyperreflexia0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0001347Hyperreflexia0NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0001347Hyperreflexia0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0001347Hyperreflexia0NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0001347Hyperreflexia0NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0001347Hyperreflexia0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0001347Hyperreflexia0NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0001347Hyperreflexia0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0001347Hyperreflexia0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0001347Hyperreflexia0NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0001347Hyperreflexia0NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0001347Hyperreflexia0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0001347Hyperreflexia0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0001347Hyperreflexia0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0001347Hyperreflexia0NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0001347Hyperreflexia0OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0001347Hyperreflexia0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0001347Hyperreflexia0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0001347Hyperreflexia0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0001347Hyperreflexia0PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0001347Hyperreflexia0PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0001347Hyperreflexia0PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0001347Hyperreflexia0PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0001347Hyperreflexia0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0001347Hyperreflexia0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0001347Hyperreflexia0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0001347Hyperreflexia0PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0001347Hyperreflexia0PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0001347Hyperreflexia0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0001347Hyperreflexia0PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0001347Hyperreflexia0PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0001347Hyperreflexia0PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0001347Hyperreflexia0PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0001347Hyperreflexia0PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0001347Hyperreflexia0PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0001347Hyperreflexia0PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0001347Hyperreflexia0PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0001347Hyperreflexia0PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0001347Hyperreflexia0PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0001347Hyperreflexia0PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0001347Hyperreflexia0PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0001347Hyperreflexia0PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0001347Hyperreflexia0PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0001347Hyperreflexia0PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0001347Hyperreflexia0PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0001347Hyperreflexia0PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0001347Hyperreflexia0PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0001347Hyperreflexia0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0001347Hyperreflexia0PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0001347Hyperreflexia0PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0001347Hyperreflexia0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0001347Hyperreflexia0PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0001347Hyperreflexia0PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0001347Hyperreflexia0PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0001347Hyperreflexia0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0001347Hyperreflexia0PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0001347Hyperreflexia0PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0001347Hyperreflexia0POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0001347Hyperreflexia0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0001347Hyperreflexia0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0001347Hyperreflexia0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0001347Hyperreflexia0PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0001347Hyperreflexia0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0001347Hyperreflexia0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0001347Hyperreflexia0PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0001347Hyperreflexia0PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0001347Hyperreflexia0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0001347Hyperreflexia0PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0001347Hyperreflexia0PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0001347Hyperreflexia0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0001347Hyperreflexia0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0001347Hyperreflexia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0001347Hyperreflexia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0001347Hyperreflexia0PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0001347Hyperreflexia0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0001347Hyperreflexia0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
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 6611523C1969084OMIM164121406611524
HP:0001347HP:0001347Hyperreflexia0REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0001347Hyperreflexia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0001347Hyperreflexia0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0001347Hyperreflexia0RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0001347Hyperreflexia0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0001347Hyperreflexia0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0001347Hyperreflexia0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0001347Hyperreflexia0RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0001347Hyperreflexia0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0001347Hyperreflexia0RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0001347Hyperreflexia0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0001347Hyperreflexia0SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0001347Hyperreflexia0SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0001347Hyperreflexia0SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0001347Hyperreflexia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0001347Hyperreflexia0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0001347Hyperreflexia0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0001347Hyperreflexia0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0001347Hyperreflexia0SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0001347Hyperreflexia0SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0001347Hyperreflexia0SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0001347Hyperreflexia0SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0001347Hyperreflexia0SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0001347Hyperreflexia0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0001347Hyperreflexia0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0001347Hyperreflexia0SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0001347Hyperreflexia0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0001347Hyperreflexia0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0001347Hyperreflexia0SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0001347Hyperreflexia0SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0001347Hyperreflexia0SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0001347Hyperreflexia0SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0001347Hyperreflexia0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0001347Hyperreflexia0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0001347Hyperreflexia0SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0001347Hyperreflexia0SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0001347Hyperreflexia0SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0001347Hyperreflexia0SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0001347Hyperreflexia0SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0001347Hyperreflexia0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0001347Hyperreflexia0SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0001347Hyperreflexia0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0001347Hyperreflexia0SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0001347Hyperreflexia0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0001347Hyperreflexia0SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0001347Hyperreflexia0SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0001347Hyperreflexia0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0001347Hyperreflexia0SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0001347Hyperreflexia0SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0001347Hyperreflexia0SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0001347Hyperreflexia0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0001347Hyperreflexia0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0001347Hyperreflexia0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0001347Hyperreflexia0STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0001347Hyperreflexia0SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0001347Hyperreflexia0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0001347Hyperreflexia0TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0001347Hyperreflexia0TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0001347Hyperreflexia0TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0001347Hyperreflexia0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0001347Hyperreflexia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0001347Hyperreflexia0TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0001347Hyperreflexia0TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0001347Hyperreflexia0TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0001347Hyperreflexia0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0001347Hyperreflexia0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0001347Hyperreflexia0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0001347Hyperreflexia0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0001347Hyperreflexia0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0001347Hyperreflexia0TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0001347Hyperreflexia0TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0001347Hyperreflexia0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0001347Hyperreflexia0TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0001347Hyperreflexia0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0001347Hyperreflexia0TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0001347Hyperreflexia0TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0001347Hyperreflexia0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0001347Hyperreflexia0UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0001347Hyperreflexia0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0001347Hyperreflexia0VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0001347Hyperreflexia0VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0001347Hyperreflexia0VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0001347Hyperreflexia0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0001347Hyperreflexia0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0001347Hyperreflexia0VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0001347Hyperreflexia0VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0001347Hyperreflexia0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0001347Hyperreflexia0WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0001347Hyperreflexia0WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0001347Hyperreflexia0WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0001347Hyperreflexia0WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0001347Hyperreflexia0WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0001347Hyperreflexia0WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0001347Hyperreflexia0ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0001347Hyperreflexia0ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0001347Hyperreflexia0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0002169Clonus1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0001348Brisk reflexes1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0007034Generalized hyperreflexia1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0007350Hyperreflexia in upper limbs1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0007054Hyperreflexia proximally1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0033683Jaw hyperreflexia1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0002395Lower limb hyperreflexia1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0002169Clonus1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0001348Brisk reflexes1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0007034Generalized hyperreflexia1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0007350Hyperreflexia in upper limbs1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0007054Hyperreflexia proximally1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0033683Jaw hyperreflexia1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0002395Lower limb hyperreflexia1ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0002169Clonus1ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0001348Brisk reflexes1ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0007034Generalized hyperreflexia1ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0007350Hyperreflexia in upper limbs1ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0007054Hyperreflexia proximally1ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0033683Jaw hyperreflexia1ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0002395Lower limb hyperreflexia1ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0002169Clonus1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0001348Brisk reflexes1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0007034Generalized hyperreflexia1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0007350Hyperreflexia in upper limbs1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0007054Hyperreflexia proximally1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0033683Jaw hyperreflexia1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0002395Lower limb hyperreflexia1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0002169Clonus1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0001348Brisk reflexes1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0007034Generalized hyperreflexia1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0007350Hyperreflexia in upper limbs1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0007054Hyperreflexia proximally1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0033683Jaw hyperreflexia1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0002395Lower limb hyperreflexia1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0002169Clonus1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0001348Brisk reflexes1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0007034Generalized hyperreflexia1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0007350Hyperreflexia in upper limbs1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0007054Hyperreflexia proximally1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0033683Jaw hyperreflexia1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0002395Lower limb hyperreflexia1ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0002169Clonus1ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0001348Brisk reflexes1ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0007034Generalized hyperreflexia1ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0007350Hyperreflexia in upper limbs1ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0007054Hyperreflexia proximally1ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0033683Jaw hyperreflexia1ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0002395Lower limb hyperreflexia1ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0002169Clonus1ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0001348Brisk reflexes1ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0007034Generalized hyperreflexia1ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0007350Hyperreflexia in upper limbs1ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0007054Hyperreflexia proximally1ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0033683Jaw hyperreflexia1ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0002395Lower limb hyperreflexia1ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0002169Clonus1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0001348Brisk reflexes1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0007034Generalized hyperreflexia1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0007350Hyperreflexia in upper limbs1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0007054Hyperreflexia proximally1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0033683Jaw hyperreflexia1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0002395Lower limb hyperreflexia1ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0002169Clonus1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0001348Brisk reflexes1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0007034Generalized hyperreflexia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0007054Hyperreflexia proximally1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0033683Jaw hyperreflexia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0002395Lower limb hyperreflexia1ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0002169Clonus1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0001348Brisk reflexes1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0007034Generalized hyperreflexia1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0007054Hyperreflexia proximally1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0033683Jaw hyperreflexia1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0002395Lower limb hyperreflexia1ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0002169Clonus1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0001348Brisk reflexes1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0007034Generalized hyperreflexia1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0007054Hyperreflexia proximally1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0033683Jaw hyperreflexia1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0002395Lower limb hyperreflexia1ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0002169Clonus1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0001348Brisk reflexes1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0007034Generalized hyperreflexia1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0007054Hyperreflexia proximally1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0033683Jaw hyperreflexia1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0002395Lower limb hyperreflexia1ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0002169Clonus1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0001348Brisk reflexes1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0007034Generalized hyperreflexia1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0007054Hyperreflexia proximally1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0033683Jaw hyperreflexia1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0002395Lower limb hyperreflexia1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0002169Clonus1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0001348Brisk reflexes1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0007034Generalized hyperreflexia1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0007054Hyperreflexia proximally1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0033683Jaw hyperreflexia1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0002395Lower limb hyperreflexia1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0002169Clonus1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0001348Brisk reflexes1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0007034Generalized hyperreflexia1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0007054Hyperreflexia proximally1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0033683Jaw hyperreflexia1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0002395Lower limb hyperreflexia1ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0002169Clonus1ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0001348Brisk reflexes1ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0007034Generalized hyperreflexia1ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0007054Hyperreflexia proximally1ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0033683Jaw hyperreflexia1ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0002395Lower limb hyperreflexia1ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0002169Clonus1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0001348Brisk reflexes1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0007034Generalized hyperreflexia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0007054Hyperreflexia proximally1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0033683Jaw hyperreflexia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0002395Lower limb hyperreflexia1ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0002169Clonus1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0001348Brisk reflexes1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0007034Generalized hyperreflexia1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0007054Hyperreflexia proximally1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0033683Jaw hyperreflexia1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0002395Lower limb hyperreflexia1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0002169Clonus1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0001348Brisk reflexes1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0007034Generalized hyperreflexia1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0007054Hyperreflexia proximally1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0033683Jaw hyperreflexia1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0002395Lower limb hyperreflexia1ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0002169Clonus1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0001348Brisk reflexes1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0007034Generalized hyperreflexia1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0007350Hyperreflexia in upper limbs1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0007054Hyperreflexia proximally1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0033683Jaw hyperreflexia1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0002395Lower limb hyperreflexia1ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0002169Clonus1AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0001348Brisk reflexes1AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0007034Generalized hyperreflexia1AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0007350Hyperreflexia in upper limbs1AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0007054Hyperreflexia proximally1AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0033683Jaw hyperreflexia1AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0002395Lower limb hyperreflexia1AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0002169Clonus1AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0001348Brisk reflexes1AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0007034Generalized hyperreflexia1AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0007350Hyperreflexia in upper limbs1AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0007054Hyperreflexia proximally1AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0033683Jaw hyperreflexia1AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0002395Lower limb hyperreflexia1AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0002169Clonus1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0001348Brisk reflexes1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0007034Generalized hyperreflexia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0007350Hyperreflexia in upper limbs1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0007054Hyperreflexia proximally1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0033683Jaw hyperreflexia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0002395Lower limb hyperreflexia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0002169Clonus1ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0001348Brisk reflexes1ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0007034Generalized hyperreflexia1ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0007350Hyperreflexia in upper limbs1ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0007054Hyperreflexia proximally1ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0033683Jaw hyperreflexia1ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0002395Lower limb hyperreflexia1ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0002169Clonus1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0001348Brisk reflexes1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0007034Generalized hyperreflexia1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0007350Hyperreflexia in upper limbs1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0007054Hyperreflexia proximally1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0033683Jaw hyperreflexia1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0002395Lower limb hyperreflexia1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0002169Clonus1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0001348Brisk reflexes1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0007034Generalized hyperreflexia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0007350Hyperreflexia in upper limbs1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0007054Hyperreflexia proximally1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0033683Jaw hyperreflexia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0002395Lower limb hyperreflexia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0002169Clonus1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0001348Brisk reflexes1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0007034Generalized hyperreflexia1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0007350Hyperreflexia in upper limbs1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0007054Hyperreflexia proximally1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0033683Jaw hyperreflexia1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0002395Lower limb hyperreflexia1AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0002169Clonus1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0001348Brisk reflexes1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0007034Generalized hyperreflexia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0007350Hyperreflexia in upper limbs1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0007054Hyperreflexia proximally1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0033683Jaw hyperreflexia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0002395Lower limb hyperreflexia1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0002169Clonus1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0001348Brisk reflexes1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0007034Generalized hyperreflexia1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0007350Hyperreflexia in upper limbs1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0007054Hyperreflexia proximally1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0033683Jaw hyperreflexia1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0002395Lower limb hyperreflexia1AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0002169Clonus1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0001348Brisk reflexes1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0007034Generalized hyperreflexia1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0007350Hyperreflexia in upper limbs1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0007054Hyperreflexia proximally1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0033683Jaw hyperreflexia1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0002395Lower limb hyperreflexia1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0002169Clonus1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0001348Brisk reflexes1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0007034Generalized hyperreflexia1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0007350Hyperreflexia in upper limbs1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0007054Hyperreflexia proximally1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0033683Jaw hyperreflexia1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0002395Lower limb hyperreflexia1AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0002169Clonus1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0001348Brisk reflexes1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0007034Generalized hyperreflexia1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0007350Hyperreflexia in upper limbs1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0007054Hyperreflexia proximally1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0033683Jaw hyperreflexia1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0002395Lower limb hyperreflexia1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0002169Clonus1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0001348Brisk reflexes1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0007034Generalized hyperreflexia1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0007350Hyperreflexia in upper limbs1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0007054Hyperreflexia proximally1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0033683Jaw hyperreflexia1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0002395Lower limb hyperreflexia1AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0002169Clonus1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0001348Brisk reflexes1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0007034Generalized hyperreflexia1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0007350Hyperreflexia in upper limbs1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0007054Hyperreflexia proximally1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0033683Jaw hyperreflexia1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0002395Lower limb hyperreflexia1AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0002169Clonus1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0001348Brisk reflexes1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0007034Generalized hyperreflexia1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0007350Hyperreflexia in upper limbs1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0007054Hyperreflexia proximally1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0033683Jaw hyperreflexia1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0002395Lower limb hyperreflexia1AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0002169Clonus1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0001348Brisk reflexes1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0007034Generalized hyperreflexia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0007350Hyperreflexia in upper limbs1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0007054Hyperreflexia proximally1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0033683Jaw hyperreflexia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0002395Lower limb hyperreflexia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0002169Clonus1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0001348Brisk reflexes1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0007034Generalized hyperreflexia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0007350Hyperreflexia in upper limbs1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0007054Hyperreflexia proximally1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0033683Jaw hyperreflexia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0002395Lower limb hyperreflexia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0002169Clonus1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0001348Brisk reflexes1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0007034Generalized hyperreflexia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0007350Hyperreflexia in upper limbs1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0007054Hyperreflexia proximally1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0033683Jaw hyperreflexia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0002395Lower limb hyperreflexia1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0002169Clonus1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0001348Brisk reflexes1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0007034Generalized hyperreflexia1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0007350Hyperreflexia in upper limbs1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0007054Hyperreflexia proximally1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0033683Jaw hyperreflexia1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0002395Lower limb hyperreflexia1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0002169Clonus1ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0001348Brisk reflexes1ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0007034Generalized hyperreflexia1ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0007350Hyperreflexia in upper limbs1ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0007054Hyperreflexia proximally1ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0033683Jaw hyperreflexia1ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0002395Lower limb hyperreflexia1ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0002169Clonus1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0001348Brisk reflexes1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0007034Generalized hyperreflexia1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0007054Hyperreflexia proximally1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0033683Jaw hyperreflexia1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0002395Lower limb hyperreflexia1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0002169Clonus1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0001348Brisk reflexes1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0007034Generalized hyperreflexia1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0007054Hyperreflexia proximally1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0033683Jaw hyperreflexia1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0002395Lower limb hyperreflexia1ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0002169Clonus1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0001348Brisk reflexes1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0007034Generalized hyperreflexia1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0007054Hyperreflexia proximally1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0033683Jaw hyperreflexia1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0002395Lower limb hyperreflexia1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0002169Clonus1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0001348Brisk reflexes1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0007034Generalized hyperreflexia1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0007054Hyperreflexia proximally1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0033683Jaw hyperreflexia1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0002395Lower limb hyperreflexia1ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0002169Clonus1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0001348Brisk reflexes1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0007034Generalized hyperreflexia1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0007054Hyperreflexia proximally1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0033683Jaw hyperreflexia1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0002395Lower limb hyperreflexia1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0002169Clonus1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0001348Brisk reflexes1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0007034Generalized hyperreflexia1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0007054Hyperreflexia proximally1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0033683Jaw hyperreflexia1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0002395Lower limb hyperreflexia1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0002169Clonus1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0001348Brisk reflexes1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0007034Generalized hyperreflexia1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0007054Hyperreflexia proximally1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0033683Jaw hyperreflexia1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0002395Lower limb hyperreflexia1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0002169Clonus1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0001348Brisk reflexes1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0007034Generalized hyperreflexia1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0007054Hyperreflexia proximally1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0033683Jaw hyperreflexia1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0002395Lower limb hyperreflexia1ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0002169Clonus1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0001348Brisk reflexes1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0007034Generalized hyperreflexia1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0007054Hyperreflexia proximally1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0033683Jaw hyperreflexia1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0002395Lower limb hyperreflexia1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0002169Clonus1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0001348Brisk reflexes1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0007034Generalized hyperreflexia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0007054Hyperreflexia proximally1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0033683Jaw hyperreflexia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0002395Lower limb hyperreflexia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0002169Clonus1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0001348Brisk reflexes1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0007034Generalized hyperreflexia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0007054Hyperreflexia proximally1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0033683Jaw hyperreflexia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0002395Lower limb hyperreflexia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0002169Clonus1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0001348Brisk reflexes1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0007034Generalized hyperreflexia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0007054Hyperreflexia proximally1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0033683Jaw hyperreflexia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0002395Lower limb hyperreflexia1ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0002169Clonus1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0001348Brisk reflexes1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0007034Generalized hyperreflexia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0007054Hyperreflexia proximally1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0033683Jaw hyperreflexia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0002395Lower limb hyperreflexia1ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0002169Clonus1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0001348Brisk reflexes1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0007034Generalized hyperreflexia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0007054Hyperreflexia proximally1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0033683Jaw hyperreflexia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0002395Lower limb hyperreflexia1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0002169Clonus1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0001348Brisk reflexes1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0007034Generalized hyperreflexia1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0007054Hyperreflexia proximally1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0033683Jaw hyperreflexia1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0002395Lower limb hyperreflexia1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0002169Clonus1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0001348Brisk reflexes1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0007034Generalized hyperreflexia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0007054Hyperreflexia proximally1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0033683Jaw hyperreflexia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0002395Lower limb hyperreflexia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0002169Clonus1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0001348Brisk reflexes1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0007034Generalized hyperreflexia1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0007054Hyperreflexia proximally1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0033683Jaw hyperreflexia1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0002395Lower limb hyperreflexia1ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0002169Clonus1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0001348Brisk reflexes1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0007034Generalized hyperreflexia1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0007350Hyperreflexia in upper limbs1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0007054Hyperreflexia proximally1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0033683Jaw hyperreflexia1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0002395Lower limb hyperreflexia1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0002169Clonus1B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0001348Brisk reflexes1B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0007034Generalized hyperreflexia1B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0006801Hyperactive deep tendon reflexes1B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0007350Hyperreflexia in upper limbs1B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0007054Hyperreflexia proximally1B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0033683Jaw hyperreflexia1B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0002395Lower limb hyperreflexia1B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0002169Clonus1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0001348Brisk reflexes1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0007034Generalized hyperreflexia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0006801Hyperactive deep tendon reflexes1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0007350Hyperreflexia in upper limbs1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0007054Hyperreflexia proximally1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0033683Jaw hyperreflexia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0002395Lower limb hyperreflexia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0002169Clonus1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0001348Brisk reflexes1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0007034Generalized hyperreflexia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0007350Hyperreflexia in upper limbs1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0007054Hyperreflexia proximally1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0033683Jaw hyperreflexia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0002395Lower limb hyperreflexia1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0002169Clonus1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0001348Brisk reflexes1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0007034Generalized hyperreflexia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0007350Hyperreflexia in upper limbs1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0007054Hyperreflexia proximally1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0033683Jaw hyperreflexia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0002395Lower limb hyperreflexia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0002169Clonus1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0001348Brisk reflexes1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0007034Generalized hyperreflexia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0007350Hyperreflexia in upper limbs1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0007054Hyperreflexia proximally1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0033683Jaw hyperreflexia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0002395Lower limb hyperreflexia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0002169Clonus1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0001348Brisk reflexes1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0007034Generalized hyperreflexia1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0007350Hyperreflexia in upper limbs1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0007054Hyperreflexia proximally1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0033683Jaw hyperreflexia1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0002395Lower limb hyperreflexia1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0002169Clonus1BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0001348Brisk reflexes1BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0007034Generalized hyperreflexia1BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0007350Hyperreflexia in upper limbs1BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0007054Hyperreflexia proximally1BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0033683Jaw hyperreflexia1BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0002395Lower limb hyperreflexia1BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0002169Clonus1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0001348Brisk reflexes1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0007034Generalized hyperreflexia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0007350Hyperreflexia in upper limbs1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0007054Hyperreflexia proximally1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0033683Jaw hyperreflexia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0002395Lower limb hyperreflexia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0002169Clonus1BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0001348Brisk reflexes1BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0007034Generalized hyperreflexia1BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0007350Hyperreflexia in upper limbs1BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0007054Hyperreflexia proximally1BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0033683Jaw hyperreflexia1BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0002395Lower limb hyperreflexia1BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0002169Clonus1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0001348Brisk reflexes1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0007034Generalized hyperreflexia1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0006801Hyperactive deep tendon reflexes1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0007350Hyperreflexia in upper limbs1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0007054Hyperreflexia proximally1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0033683Jaw hyperreflexia1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0002395Lower limb hyperreflexia1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0002169Clonus1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0001348Brisk reflexes1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0007034Generalized hyperreflexia1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0006801Hyperactive deep tendon reflexes1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0007350Hyperreflexia in upper limbs1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0007054Hyperreflexia proximally1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0033683Jaw hyperreflexia1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0002395Lower limb hyperreflexia1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0002169Clonus1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0001348Brisk reflexes1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0007034Generalized hyperreflexia1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0006801Hyperactive deep tendon reflexes1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0007350Hyperreflexia in upper limbs1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0007054Hyperreflexia proximally1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0033683Jaw hyperreflexia1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0002395Lower limb hyperreflexia1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0002169Clonus1CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0001348Brisk reflexes1CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0007034Generalized hyperreflexia1CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0007350Hyperreflexia in upper limbs1CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0007054Hyperreflexia proximally1CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0033683Jaw hyperreflexia1CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0002395Lower limb hyperreflexia1CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0002169Clonus1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0001348Brisk reflexes1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0007034Generalized hyperreflexia1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0007350Hyperreflexia in upper limbs1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0007054Hyperreflexia proximally1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0033683Jaw hyperreflexia1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0002395Lower limb hyperreflexia1CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0002169Clonus1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0001348Brisk reflexes1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0007034Generalized hyperreflexia1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0007350Hyperreflexia in upper limbs1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0007054Hyperreflexia proximally1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0033683Jaw hyperreflexia1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0002395Lower limb hyperreflexia1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0002169Clonus1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0001348Brisk reflexes1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0007034Generalized hyperreflexia1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0007350Hyperreflexia in upper limbs1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0007054Hyperreflexia proximally1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0033683Jaw hyperreflexia1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0002395Lower limb hyperreflexia1CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0002169Clonus1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0001348Brisk reflexes1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0007034Generalized hyperreflexia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0007350Hyperreflexia in upper limbs1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0007054Hyperreflexia proximally1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0033683Jaw hyperreflexia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0002395Lower limb hyperreflexia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0002169Clonus1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0001348Brisk reflexes1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0007034Generalized hyperreflexia1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0007350Hyperreflexia in upper limbs1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0007054Hyperreflexia proximally1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0033683Jaw hyperreflexia1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0002395Lower limb hyperreflexia1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0002169Clonus1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0001348Brisk reflexes1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0007034Generalized hyperreflexia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0007350Hyperreflexia in upper limbs1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0007054Hyperreflexia proximally1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0033683Jaw hyperreflexia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0002395Lower limb hyperreflexia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0002169Clonus1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0001348Brisk reflexes1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0007034Generalized hyperreflexia1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0007350Hyperreflexia in upper limbs1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0007054Hyperreflexia proximally1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0033683Jaw hyperreflexia1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0002395Lower limb hyperreflexia1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0002169Clonus1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0001348Brisk reflexes1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0007034Generalized hyperreflexia1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0007350Hyperreflexia in upper limbs1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0007054Hyperreflexia proximally1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0033683Jaw hyperreflexia1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0002395Lower limb hyperreflexia1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0002169Clonus1CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0001348Brisk reflexes1CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0007034Generalized hyperreflexia1CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0007350Hyperreflexia in upper limbs1CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0007054Hyperreflexia proximally1CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0033683Jaw hyperreflexia1CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0002395Lower limb hyperreflexia1CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0002169Clonus1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0001348Brisk reflexes1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0007034Generalized hyperreflexia1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0007350Hyperreflexia in upper limbs1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0007054Hyperreflexia proximally1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0033683Jaw hyperreflexia1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0002395Lower limb hyperreflexia1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0002169Clonus1CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0001348Brisk reflexes1CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0007034Generalized hyperreflexia1CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0007350Hyperreflexia in upper limbs1CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0007054Hyperreflexia proximally1CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0033683Jaw hyperreflexia1CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0002395Lower limb hyperreflexia1CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0002169Clonus1CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0001348Brisk reflexes1CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0007034Generalized hyperreflexia1CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0007350Hyperreflexia in upper limbs1CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0007054Hyperreflexia proximally1CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0033683Jaw hyperreflexia1CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0002395Lower limb hyperreflexia1CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0002169Clonus1CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0001348Brisk reflexes1CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0007034Generalized hyperreflexia1CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0007350Hyperreflexia in upper limbs1CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0007054Hyperreflexia proximally1CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0033683Jaw hyperreflexia1CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0002395Lower limb hyperreflexia1CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0002169Clonus1CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0001348Brisk reflexes1CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0007034Generalized hyperreflexia1CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0007350Hyperreflexia in upper limbs1CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0007054Hyperreflexia proximally1CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0033683Jaw hyperreflexia1CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0002395Lower limb hyperreflexia1CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0002169Clonus1CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0001348Brisk reflexes1CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0007034Generalized hyperreflexia1CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0007350Hyperreflexia in upper limbs1CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0007054Hyperreflexia proximally1CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0033683Jaw hyperreflexia1CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0002395Lower limb hyperreflexia1CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0002169Clonus1CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0001348Brisk reflexes1CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0007034Generalized hyperreflexia1CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0007350Hyperreflexia in upper limbs1CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0007054Hyperreflexia proximally1CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0033683Jaw hyperreflexia1CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0002395Lower limb hyperreflexia1CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0002169Clonus1CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0001348Brisk reflexes1CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0007034Generalized hyperreflexia1CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0007350Hyperreflexia in upper limbs1CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0007054Hyperreflexia proximally1CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0033683Jaw hyperreflexia1CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0002395Lower limb hyperreflexia1CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0002169Clonus1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0001348Brisk reflexes1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0007034Generalized hyperreflexia1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0007350Hyperreflexia in upper limbs1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0007054Hyperreflexia proximally1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0033683Jaw hyperreflexia1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0002395Lower limb hyperreflexia1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0002169Clonus1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0001348Brisk reflexes1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0007034Generalized hyperreflexia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0007350Hyperreflexia in upper limbs1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0007054Hyperreflexia proximally1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0033683Jaw hyperreflexia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0002395Lower limb hyperreflexia1CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0002169Clonus1CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0001348Brisk reflexes1CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0007034Generalized hyperreflexia1CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0007350Hyperreflexia in upper limbs1CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0007054Hyperreflexia proximally1CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0033683Jaw hyperreflexia1CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0002395Lower limb hyperreflexia1CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0002169Clonus1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0001348Brisk reflexes1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0007034Generalized hyperreflexia1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0007350Hyperreflexia in upper limbs1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0007054Hyperreflexia proximally1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0033683Jaw hyperreflexia1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0002395Lower limb hyperreflexia1CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0002169Clonus1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0001348Brisk reflexes1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0007034Generalized hyperreflexia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0007350Hyperreflexia in upper limbs1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0007054Hyperreflexia proximally1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0033683Jaw hyperreflexia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0002395Lower limb hyperreflexia1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0002169Clonus1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0001348Brisk reflexes1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0007034Generalized hyperreflexia1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0007350Hyperreflexia in upper limbs1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0007054Hyperreflexia proximally1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0033683Jaw hyperreflexia1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0002395Lower limb hyperreflexia1CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0002169Clonus1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0001348Brisk reflexes1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0007034Generalized hyperreflexia1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0007350Hyperreflexia in upper limbs1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0007054Hyperreflexia proximally1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0033683Jaw hyperreflexia1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0002395Lower limb hyperreflexia1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0002169Clonus1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0001348Brisk reflexes1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0007034Generalized hyperreflexia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0007350Hyperreflexia in upper limbs1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0007054Hyperreflexia proximally1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0033683Jaw hyperreflexia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0002395Lower limb hyperreflexia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0002169Clonus1COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0001348Brisk reflexes1COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0007034Generalized hyperreflexia1COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0006801Hyperactive deep tendon reflexes1COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0007350Hyperreflexia in upper limbs1COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0007054Hyperreflexia proximally1COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0033683Jaw hyperreflexia1COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0002395Lower limb hyperreflexia1COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0002169Clonus1COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0001348Brisk reflexes1COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0007034Generalized hyperreflexia1COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0006801Hyperactive deep tendon reflexes1COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0007350Hyperreflexia in upper limbs1COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0007054Hyperreflexia proximally1COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0033683Jaw hyperreflexia1COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0002395Lower limb hyperreflexia1COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0002169Clonus1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0001348Brisk reflexes1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0007034Generalized hyperreflexia1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0006801Hyperactive deep tendon reflexes1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0007350Hyperreflexia in upper limbs1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0007054Hyperreflexia proximally1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0033683Jaw hyperreflexia1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0002395Lower limb hyperreflexia1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0002169Clonus1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0001348Brisk reflexes1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0007034Generalized hyperreflexia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0006801Hyperactive deep tendon reflexes1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0007350Hyperreflexia in upper limbs1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0007054Hyperreflexia proximally1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0033683Jaw hyperreflexia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0002395Lower limb hyperreflexia1COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0002169Clonus1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0001348Brisk reflexes1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0007034Generalized hyperreflexia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0006801Hyperactive deep tendon reflexes1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0007350Hyperreflexia in upper limbs1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0007054Hyperreflexia proximally1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0033683Jaw hyperreflexia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0002395Lower limb hyperreflexia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0002169Clonus1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0001348Brisk reflexes1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0007034Generalized hyperreflexia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0006801Hyperactive deep tendon reflexes1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0007350Hyperreflexia in upper limbs1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0007054Hyperreflexia proximally1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0033683Jaw hyperreflexia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0002395Lower limb hyperreflexia1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0002169Clonus1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0001348Brisk reflexes1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0007034Generalized hyperreflexia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0006801Hyperactive deep tendon reflexes1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0007350Hyperreflexia in upper limbs1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0007054Hyperreflexia proximally1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0033683Jaw hyperreflexia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0002395Lower limb hyperreflexia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0002169Clonus1CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0001348Brisk reflexes1CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0007034Generalized hyperreflexia1CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0007350Hyperreflexia in upper limbs1CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0007054Hyperreflexia proximally1CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0033683Jaw hyperreflexia1CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0002395Lower limb hyperreflexia1CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0002169Clonus1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0001348Brisk reflexes1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0007034Generalized hyperreflexia1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0007350Hyperreflexia in upper limbs1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0007054Hyperreflexia proximally1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0033683Jaw hyperreflexia1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0002395Lower limb hyperreflexia1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0002169Clonus1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0001348Brisk reflexes1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0007034Generalized hyperreflexia1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0007350Hyperreflexia in upper limbs1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0007054Hyperreflexia proximally1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0033683Jaw hyperreflexia1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0002395Lower limb hyperreflexia1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0002169Clonus1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0001348Brisk reflexes1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0007034Generalized hyperreflexia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0007350Hyperreflexia in upper limbs1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0007054Hyperreflexia proximally1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0033683Jaw hyperreflexia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0002395Lower limb hyperreflexia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0002169Clonus1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0001348Brisk reflexes1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0007034Generalized hyperreflexia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0007350Hyperreflexia in upper limbs1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0007054Hyperreflexia proximally1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0033683Jaw hyperreflexia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0002395Lower limb hyperreflexia1CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0002169Clonus1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0001348Brisk reflexes1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0007034Generalized hyperreflexia1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0007350Hyperreflexia in upper limbs1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0007054Hyperreflexia proximally1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0033683Jaw hyperreflexia1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0002395Lower limb hyperreflexia1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0002169Clonus1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0001348Brisk reflexes1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0007034Generalized hyperreflexia1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0007350Hyperreflexia in upper limbs1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0007054Hyperreflexia proximally1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0033683Jaw hyperreflexia1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0002395Lower limb hyperreflexia1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0002169Clonus1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0001348Brisk reflexes1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0007034Generalized hyperreflexia1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0007350Hyperreflexia in upper limbs1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0007054Hyperreflexia proximally1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0033683Jaw hyperreflexia1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0002395Lower limb hyperreflexia1CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0002169Clonus1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0001348Brisk reflexes1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0007034Generalized hyperreflexia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0007350Hyperreflexia in upper limbs1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0007054Hyperreflexia proximally1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0033683Jaw hyperreflexia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0002395Lower limb hyperreflexia1CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0002169Clonus1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0001348Brisk reflexes1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0007034Generalized hyperreflexia1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0007350Hyperreflexia in upper limbs1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0007054Hyperreflexia proximally1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0033683Jaw hyperreflexia1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0002395Lower limb hyperreflexia1CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0002169Clonus1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0001348Brisk reflexes1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0007034Generalized hyperreflexia1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0007350Hyperreflexia in upper limbs1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0007054Hyperreflexia proximally1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0033683Jaw hyperreflexia1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0002395Lower limb hyperreflexia1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0002169Clonus1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0001348Brisk reflexes1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0007034Generalized hyperreflexia1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0007350Hyperreflexia in upper limbs1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0007054Hyperreflexia proximally1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0033683Jaw hyperreflexia1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0002395Lower limb hyperreflexia1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0002169Clonus1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0001348Brisk reflexes1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0007034Generalized hyperreflexia1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0007350Hyperreflexia in upper limbs1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0007054Hyperreflexia proximally1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0033683Jaw hyperreflexia1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0002395Lower limb hyperreflexia1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0002169Clonus1DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0001348Brisk reflexes1DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0007034Generalized hyperreflexia1DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0007350Hyperreflexia in upper limbs1DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0007054Hyperreflexia proximally1DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0033683Jaw hyperreflexia1DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0002395Lower limb hyperreflexia1DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0002169Clonus1DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0001348Brisk reflexes1DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0007034Generalized hyperreflexia1DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0007350Hyperreflexia in upper limbs1DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0007054Hyperreflexia proximally1DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0033683Jaw hyperreflexia1DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0002395Lower limb hyperreflexia1DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0002169Clonus1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0001348Brisk reflexes1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0007034Generalized hyperreflexia1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0007350Hyperreflexia in upper limbs1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0007054Hyperreflexia proximally1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0033683Jaw hyperreflexia1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0002395Lower limb hyperreflexia1DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0002169Clonus1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0001348Brisk reflexes1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0007034Generalized hyperreflexia1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0007350Hyperreflexia in upper limbs1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0007054Hyperreflexia proximally1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0033683Jaw hyperreflexia1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0002395Lower limb hyperreflexia1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0002169Clonus1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0001348Brisk reflexes1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0007034Generalized hyperreflexia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0007350Hyperreflexia in upper limbs1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0007054Hyperreflexia proximally1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0033683Jaw hyperreflexia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0002395Lower limb hyperreflexia1DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0002169Clonus1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0001348Brisk reflexes1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0007034Generalized hyperreflexia1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0007350Hyperreflexia in upper limbs1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0007054Hyperreflexia proximally1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0033683Jaw hyperreflexia1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0002395Lower limb hyperreflexia1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0002169Clonus1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0001348Brisk reflexes1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0007034Generalized hyperreflexia1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0007350Hyperreflexia in upper limbs1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0007054Hyperreflexia proximally1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0033683Jaw hyperreflexia1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0002395Lower limb hyperreflexia1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0002169Clonus1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0001348Brisk reflexes1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0007034Generalized hyperreflexia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0007350Hyperreflexia in upper limbs1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0007054Hyperreflexia proximally1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0033683Jaw hyperreflexia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0002395Lower limb hyperreflexia1DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0002169Clonus1DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0001348Brisk reflexes1DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0007034Generalized hyperreflexia1DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0007350Hyperreflexia in upper limbs1DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0007054Hyperreflexia proximally1DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0033683Jaw hyperreflexia1DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0002395Lower limb hyperreflexia1DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0002169Clonus1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0001348Brisk reflexes1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0007034Generalized hyperreflexia1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0007350Hyperreflexia in upper limbs1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0007054Hyperreflexia proximally1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0033683Jaw hyperreflexia1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0002395Lower limb hyperreflexia1DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0002169Clonus1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0001348Brisk reflexes1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0007034Generalized hyperreflexia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0007350Hyperreflexia in upper limbs1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0007054Hyperreflexia proximally1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0033683Jaw hyperreflexia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0002395Lower limb hyperreflexia1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0002169Clonus1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0001348Brisk reflexes1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0007034Generalized hyperreflexia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0006801Hyperactive deep tendon reflexes1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0007350Hyperreflexia in upper limbs1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0007054Hyperreflexia proximally1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0033683Jaw hyperreflexia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0002395Lower limb hyperreflexia1EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0002169Clonus1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0001348Brisk reflexes1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0007034Generalized hyperreflexia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0007350Hyperreflexia in upper limbs1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0007054Hyperreflexia proximally1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0033683Jaw hyperreflexia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0002395Lower limb hyperreflexia1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0002169Clonus1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0001348Brisk reflexes1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0007034Generalized hyperreflexia1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0007350Hyperreflexia in upper limbs1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0007054Hyperreflexia proximally1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0033683Jaw hyperreflexia1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0002395Lower limb hyperreflexia1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0002169Clonus1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0001348Brisk reflexes1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0007034Generalized hyperreflexia1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0007350Hyperreflexia in upper limbs1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0007054Hyperreflexia proximally1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0033683Jaw hyperreflexia1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0002395Lower limb hyperreflexia1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0002169Clonus1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0001348Brisk reflexes1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0007034Generalized hyperreflexia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0006801Hyperactive deep tendon reflexes1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0007350Hyperreflexia in upper limbs1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0007054Hyperreflexia proximally1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0033683Jaw hyperreflexia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0002395Lower limb hyperreflexia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0002169Clonus1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0001348Brisk reflexes1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0007034Generalized hyperreflexia1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0007350Hyperreflexia in upper limbs1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0007054Hyperreflexia proximally1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0033683Jaw hyperreflexia1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0002395Lower limb hyperreflexia1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0002169Clonus1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0001348Brisk reflexes1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0007034Generalized hyperreflexia1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0007350Hyperreflexia in upper limbs1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0007054Hyperreflexia proximally1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0033683Jaw hyperreflexia1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0002395Lower limb hyperreflexia1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0002169Clonus1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0001348Brisk reflexes1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0007034Generalized hyperreflexia1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0007350Hyperreflexia in upper limbs1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0007054Hyperreflexia proximally1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0033683Jaw hyperreflexia1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0002395Lower limb hyperreflexia1ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0002169Clonus1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0001348Brisk reflexes1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0007034Generalized hyperreflexia1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0007350Hyperreflexia in upper limbs1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0007054Hyperreflexia proximally1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0033683Jaw hyperreflexia1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0002395Lower limb hyperreflexia1ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0002169Clonus1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0001348Brisk reflexes1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0007034Generalized hyperreflexia1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0006801Hyperactive deep tendon reflexes1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0007350Hyperreflexia in upper limbs1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0007054Hyperreflexia proximally1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0033683Jaw hyperreflexia1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0002395Lower limb hyperreflexia1EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0002169Clonus1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0001348Brisk reflexes1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0007034Generalized hyperreflexia1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0006801Hyperactive deep tendon reflexes1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0007350Hyperreflexia in upper limbs1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0007054Hyperreflexia proximally1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0033683Jaw hyperreflexia1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0002395Lower limb hyperreflexia1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0002169Clonus1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0001348Brisk reflexes1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0007034Generalized hyperreflexia1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0006801Hyperactive deep tendon reflexes1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0007350Hyperreflexia in upper limbs1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0007054Hyperreflexia proximally1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0033683Jaw hyperreflexia1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0002395Lower limb hyperreflexia1EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0002169Clonus1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0001348Brisk reflexes1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0007034Generalized hyperreflexia1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0007350Hyperreflexia in upper limbs1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0007054Hyperreflexia proximally1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0033683Jaw hyperreflexia1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0002395Lower limb hyperreflexia1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0002169Clonus1FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0001348Brisk reflexes1FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0007034Generalized hyperreflexia1FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0007350Hyperreflexia in upper limbs1FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0007054Hyperreflexia proximally1FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0033683Jaw hyperreflexia1FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0002395Lower limb hyperreflexia1FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0002169Clonus1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0001348Brisk reflexes1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0007034Generalized hyperreflexia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0007350Hyperreflexia in upper limbs1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0007054Hyperreflexia proximally1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0033683Jaw hyperreflexia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0002395Lower limb hyperreflexia1FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0002169Clonus1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0001348Brisk reflexes1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0007034Generalized hyperreflexia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0007350Hyperreflexia in upper limbs1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0007054Hyperreflexia proximally1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0033683Jaw hyperreflexia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0002395Lower limb hyperreflexia1FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0002169Clonus1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0001348Brisk reflexes1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0007034Generalized hyperreflexia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0007350Hyperreflexia in upper limbs1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0007054Hyperreflexia proximally1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0033683Jaw hyperreflexia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0002395Lower limb hyperreflexia1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0002169Clonus1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0001348Brisk reflexes1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0007034Generalized hyperreflexia1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0007350Hyperreflexia in upper limbs1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0007054Hyperreflexia proximally1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0033683Jaw hyperreflexia1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0002395Lower limb hyperreflexia1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0002169Clonus1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0001348Brisk reflexes1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0007034Generalized hyperreflexia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0007350Hyperreflexia in upper limbs1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0007054Hyperreflexia proximally1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0033683Jaw hyperreflexia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0002395Lower limb hyperreflexia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0002169Clonus1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0001348Brisk reflexes1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0007034Generalized hyperreflexia1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0007350Hyperreflexia in upper limbs1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0007054Hyperreflexia proximally1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0033683Jaw hyperreflexia1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0002395Lower limb hyperreflexia1FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0002169Clonus1GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0001348Brisk reflexes1GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0007034Generalized hyperreflexia1GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0007350Hyperreflexia in upper limbs1GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0007054Hyperreflexia proximally1GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0033683Jaw hyperreflexia1GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0002395Lower limb hyperreflexia1GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0002169Clonus1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0001348Brisk reflexes1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0007034Generalized hyperreflexia1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0007350Hyperreflexia in upper limbs1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0007054Hyperreflexia proximally1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0033683Jaw hyperreflexia1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0002395Lower limb hyperreflexia1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0002169Clonus1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0001348Brisk reflexes1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0007034Generalized hyperreflexia1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0007350Hyperreflexia in upper limbs1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0007054Hyperreflexia proximally1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0033683Jaw hyperreflexia1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0002395Lower limb hyperreflexia1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0002169Clonus1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0001348Brisk reflexes1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0007034Generalized hyperreflexia1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0007350Hyperreflexia in upper limbs1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0007054Hyperreflexia proximally1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0033683Jaw hyperreflexia1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0002395Lower limb hyperreflexia1GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0002169Clonus1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0001348Brisk reflexes1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0007034Generalized hyperreflexia1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0007350Hyperreflexia in upper limbs1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0007054Hyperreflexia proximally1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0033683Jaw hyperreflexia1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0002395Lower limb hyperreflexia1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0002169Clonus1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0001348Brisk reflexes1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0007034Generalized hyperreflexia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0007350Hyperreflexia in upper limbs1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0007054Hyperreflexia proximally1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0033683Jaw hyperreflexia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0002395Lower limb hyperreflexia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0002169Clonus1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0001348Brisk reflexes1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0007034Generalized hyperreflexia1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0007350Hyperreflexia in upper limbs1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0007054Hyperreflexia proximally1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0033683Jaw hyperreflexia1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0002395Lower limb hyperreflexia1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0002169Clonus1GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0001348Brisk reflexes1GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0007034Generalized hyperreflexia1GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0007350Hyperreflexia in upper limbs1GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0007054Hyperreflexia proximally1GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0033683Jaw hyperreflexia1GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0002395Lower limb hyperreflexia1GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0002169Clonus1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0001348Brisk reflexes1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0007034Generalized hyperreflexia1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0007350Hyperreflexia in upper limbs1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0007054Hyperreflexia proximally1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0033683Jaw hyperreflexia1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0002395Lower limb hyperreflexia1GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0002169Clonus1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0001348Brisk reflexes1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0007034Generalized hyperreflexia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0007350Hyperreflexia in upper limbs1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0007054Hyperreflexia proximally1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0033683Jaw hyperreflexia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0002395Lower limb hyperreflexia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0002169Clonus1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0001348Brisk reflexes1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0007034Generalized hyperreflexia1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0007350Hyperreflexia in upper limbs1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0007054Hyperreflexia proximally1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0033683Jaw hyperreflexia1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0002395Lower limb hyperreflexia1GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0002169Clonus1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0001348Brisk reflexes1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0007034Generalized hyperreflexia1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0007350Hyperreflexia in upper limbs1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0007054Hyperreflexia proximally1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0033683Jaw hyperreflexia1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0002395Lower limb hyperreflexia1GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0002169Clonus1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0001348Brisk reflexes1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0007034Generalized hyperreflexia1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0007350Hyperreflexia in upper limbs1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0007054Hyperreflexia proximally1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0033683Jaw hyperreflexia1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0002395Lower limb hyperreflexia1GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0002169Clonus1GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0001348Brisk reflexes1GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0007034Generalized hyperreflexia1GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0007350Hyperreflexia in upper limbs1GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0007054Hyperreflexia proximally1GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0033683Jaw hyperreflexia1GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0002395Lower limb hyperreflexia1GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0002169Clonus1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0001348Brisk reflexes1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0007034Generalized hyperreflexia1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0007350Hyperreflexia in upper limbs1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0007054Hyperreflexia proximally1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0033683Jaw hyperreflexia1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0002395Lower limb hyperreflexia1GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0002169Clonus1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0001348Brisk reflexes1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0007034Generalized hyperreflexia1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0007350Hyperreflexia in upper limbs1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0007054Hyperreflexia proximally1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0033683Jaw hyperreflexia1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0002395Lower limb hyperreflexia1GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0002169Clonus1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0001348Brisk reflexes1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0007034Generalized hyperreflexia1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0007350Hyperreflexia in upper limbs1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0007054Hyperreflexia proximally1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0033683Jaw hyperreflexia1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0002395Lower limb hyperreflexia1GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0002169Clonus1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0001348Brisk reflexes1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0007034Generalized hyperreflexia1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0007350Hyperreflexia in upper limbs1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0007054Hyperreflexia proximally1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0033683Jaw hyperreflexia1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0002395Lower limb hyperreflexia1GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0002169Clonus1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0001348Brisk reflexes1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0007034Generalized hyperreflexia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0007350Hyperreflexia in upper limbs1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0007054Hyperreflexia proximally1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0033683Jaw hyperreflexia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0002395Lower limb hyperreflexia1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0002169Clonus1GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0001348Brisk reflexes1GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0007034Generalized hyperreflexia1GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0007350Hyperreflexia in upper limbs1GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0007054Hyperreflexia proximally1GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0033683Jaw hyperreflexia1GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0002395Lower limb hyperreflexia1GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0002169Clonus1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0001348Brisk reflexes1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0007034Generalized hyperreflexia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0007350Hyperreflexia in upper limbs1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0007054Hyperreflexia proximally1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0033683Jaw hyperreflexia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0002395Lower limb hyperreflexia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0002169Clonus1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0001348Brisk reflexes1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0007034Generalized hyperreflexia1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0007350Hyperreflexia in upper limbs1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0007054Hyperreflexia proximally1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0033683Jaw hyperreflexia1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0002395Lower limb hyperreflexia1GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0002169Clonus1GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0001348Brisk reflexes1GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0007034Generalized hyperreflexia1GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0007350Hyperreflexia in upper limbs1GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0007054Hyperreflexia proximally1GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0033683Jaw hyperreflexia1GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0002395Lower limb hyperreflexia1GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0002169Clonus1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0001348Brisk reflexes1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0007034Generalized hyperreflexia1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0007350Hyperreflexia in upper limbs1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0007054Hyperreflexia proximally1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0033683Jaw hyperreflexia1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0002395Lower limb hyperreflexia1GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0002169Clonus1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0001348Brisk reflexes1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0007034Generalized hyperreflexia1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0007350Hyperreflexia in upper limbs1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0007054Hyperreflexia proximally1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0033683Jaw hyperreflexia1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0002395Lower limb hyperreflexia1GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0002169Clonus1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0001348Brisk reflexes1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0007034Generalized hyperreflexia1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0007350Hyperreflexia in upper limbs1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0007054Hyperreflexia proximally1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0033683Jaw hyperreflexia1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0002395Lower limb hyperreflexia1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0002169Clonus1GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0001348Brisk reflexes1GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0007034Generalized hyperreflexia1GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0007350Hyperreflexia in upper limbs1GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0007054Hyperreflexia proximally1GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0033683Jaw hyperreflexia1GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0002395Lower limb hyperreflexia1GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0002169Clonus1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0001348Brisk reflexes1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0007034Generalized hyperreflexia1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0007350Hyperreflexia in upper limbs1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0007054Hyperreflexia proximally1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0033683Jaw hyperreflexia1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0002395Lower limb hyperreflexia1GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0002169Clonus1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0001348Brisk reflexes1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0007034Generalized hyperreflexia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0007350Hyperreflexia in upper limbs1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0007054Hyperreflexia proximally1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0033683Jaw hyperreflexia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0002395Lower limb hyperreflexia1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0002169Clonus1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0001348Brisk reflexes1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0007034Generalized hyperreflexia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0007350Hyperreflexia in upper limbs1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0007054Hyperreflexia proximally1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0033683Jaw hyperreflexia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0002395Lower limb hyperreflexia1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0002169Clonus1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0001348Brisk reflexes1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0007034Generalized hyperreflexia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0007350Hyperreflexia in upper limbs1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0007054Hyperreflexia proximally1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0033683Jaw hyperreflexia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0002395Lower limb hyperreflexia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0002169Clonus1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0001348Brisk reflexes1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0007034Generalized hyperreflexia1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0006801Hyperactive deep tendon reflexes1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0007350Hyperreflexia in upper limbs1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0007054Hyperreflexia proximally1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0033683Jaw hyperreflexia1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0002395Lower limb hyperreflexia1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0002169Clonus1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0001348Brisk reflexes1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0007034Generalized hyperreflexia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0006801Hyperactive deep tendon reflexes1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0007350Hyperreflexia in upper limbs1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0007054Hyperreflexia proximally1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0033683Jaw hyperreflexia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0002395Lower limb hyperreflexia1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0002169Clonus1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0001348Brisk reflexes1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0007034Generalized hyperreflexia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0006801Hyperactive deep tendon reflexes1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0007350Hyperreflexia in upper limbs1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0007054Hyperreflexia proximally1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0033683Jaw hyperreflexia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0002395Lower limb hyperreflexia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0002169Clonus1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0001348Brisk reflexes1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0007034Generalized hyperreflexia1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0006801Hyperactive deep tendon reflexes1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0007350Hyperreflexia in upper limbs1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0007054Hyperreflexia proximally1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0033683Jaw hyperreflexia1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0002395Lower limb hyperreflexia1HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0002169Clonus1HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0001348Brisk reflexes1HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0007034Generalized hyperreflexia1HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0006801Hyperactive deep tendon reflexes1HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0007350Hyperreflexia in upper limbs1HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0007054Hyperreflexia proximally1HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0033683Jaw hyperreflexia1HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0002395Lower limb hyperreflexia1HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0002169Clonus1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0001348Brisk reflexes1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0007034Generalized hyperreflexia1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0006801Hyperactive deep tendon reflexes1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0007350Hyperreflexia in upper limbs1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0007054Hyperreflexia proximally1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0033683Jaw hyperreflexia1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0002395Lower limb hyperreflexia1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0002169Clonus1HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0001348Brisk reflexes1HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0007034Generalized hyperreflexia1HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0006801Hyperactive deep tendon reflexes1HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0007350Hyperreflexia in upper limbs1HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0007054Hyperreflexia proximally1HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0033683Jaw hyperreflexia1HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0002395Lower limb hyperreflexia1HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0002169Clonus1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0001348Brisk reflexes1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0007034Generalized hyperreflexia1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0006801Hyperactive deep tendon reflexes1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0007350Hyperreflexia in upper limbs1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0007054Hyperreflexia proximally1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0033683Jaw hyperreflexia1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0002395Lower limb hyperreflexia1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0002169Clonus1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0001348Brisk reflexes1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0007034Generalized hyperreflexia1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0006801Hyperactive deep tendon reflexes1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0007350Hyperreflexia in upper limbs1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0007054Hyperreflexia proximally1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0033683Jaw hyperreflexia1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0002395Lower limb hyperreflexia1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0002169Clonus1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0001348Brisk reflexes1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0007034Generalized hyperreflexia1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0006801Hyperactive deep tendon reflexes1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0007350Hyperreflexia in upper limbs1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0007054Hyperreflexia proximally1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0033683Jaw hyperreflexia1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0002395Lower limb hyperreflexia1INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0002169Clonus1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0001348Brisk reflexes1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0007034Generalized hyperreflexia1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0007350Hyperreflexia in upper limbs1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0007054Hyperreflexia proximally1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0033683Jaw hyperreflexia1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0002395Lower limb hyperreflexia1ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0002169Clonus1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0001348Brisk reflexes1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0007034Generalized hyperreflexia1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0007350Hyperreflexia in upper limbs1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0007054Hyperreflexia proximally1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0033683Jaw hyperreflexia1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0002395Lower limb hyperreflexia1ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0002169Clonus1ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0001348Brisk reflexes1ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0007034Generalized hyperreflexia1ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0007350Hyperreflexia in upper limbs1ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0007054Hyperreflexia proximally1ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0033683Jaw hyperreflexia1ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0002395Lower limb hyperreflexia1ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0002169Clonus1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0001348Brisk reflexes1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0007034Generalized hyperreflexia1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0007350Hyperreflexia in upper limbs1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0007054Hyperreflexia proximally1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0033683Jaw hyperreflexia1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0002395Lower limb hyperreflexia1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0002169Clonus1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0001348Brisk reflexes1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0007034Generalized hyperreflexia1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0006801Hyperactive deep tendon reflexes1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0007350Hyperreflexia in upper limbs1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0007054Hyperreflexia proximally1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0033683Jaw hyperreflexia1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0002395Lower limb hyperreflexia1JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0002169Clonus1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0001348Brisk reflexes1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0007034Generalized hyperreflexia1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0006801Hyperactive deep tendon reflexes1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0007350Hyperreflexia in upper limbs1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0007054Hyperreflexia proximally1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0033683Jaw hyperreflexia1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0002395Lower limb hyperreflexia1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0002169Clonus1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0001348Brisk reflexes1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0007034Generalized hyperreflexia1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0007350Hyperreflexia in upper limbs1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0007054Hyperreflexia proximally1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0033683Jaw hyperreflexia1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0002395Lower limb hyperreflexia1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0002169Clonus1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0001348Brisk reflexes1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0007034Generalized hyperreflexia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0007350Hyperreflexia in upper limbs1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0007054Hyperreflexia proximally1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0033683Jaw hyperreflexia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0002395Lower limb hyperreflexia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0002169Clonus1KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0001348Brisk reflexes1KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0007034Generalized hyperreflexia1KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0007350Hyperreflexia in upper limbs1KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0007054Hyperreflexia proximally1KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0033683Jaw hyperreflexia1KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0002395Lower limb hyperreflexia1KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0002169Clonus1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0001348Brisk reflexes1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0007034Generalized hyperreflexia1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0007350Hyperreflexia in upper limbs1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0007054Hyperreflexia proximally1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0033683Jaw hyperreflexia1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0002395Lower limb hyperreflexia1KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0002169Clonus1KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0001348Brisk reflexes1KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0007034Generalized hyperreflexia1KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0007350Hyperreflexia in upper limbs1KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0007054Hyperreflexia proximally1KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0033683Jaw hyperreflexia1KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0002395Lower limb hyperreflexia1KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0002169Clonus1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0001348Brisk reflexes1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0007034Generalized hyperreflexia1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0007350Hyperreflexia in upper limbs1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0007054Hyperreflexia proximally1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0033683Jaw hyperreflexia1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0002395Lower limb hyperreflexia1KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0002169Clonus1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0001348Brisk reflexes1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0007034Generalized hyperreflexia1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0007350Hyperreflexia in upper limbs1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0007054Hyperreflexia proximally1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0033683Jaw hyperreflexia1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0002395Lower limb hyperreflexia1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0002169Clonus1KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0001348Brisk reflexes1KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0007034Generalized hyperreflexia1KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0007350Hyperreflexia in upper limbs1KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0007054Hyperreflexia proximally1KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0033683Jaw hyperreflexia1KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0002395Lower limb hyperreflexia1KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0002169Clonus1KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0001348Brisk reflexes1KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0007034Generalized hyperreflexia1KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0007350Hyperreflexia in upper limbs1KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0007054Hyperreflexia proximally1KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0033683Jaw hyperreflexia1KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0002395Lower limb hyperreflexia1KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0002169Clonus1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0001348Brisk reflexes1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0007034Generalized hyperreflexia1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0007350Hyperreflexia in upper limbs1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0007054Hyperreflexia proximally1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0033683Jaw hyperreflexia1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0002395Lower limb hyperreflexia1KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0002169Clonus1KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0001348Brisk reflexes1KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0007034Generalized hyperreflexia1KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0007350Hyperreflexia in upper limbs1KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0007054Hyperreflexia proximally1KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0033683Jaw hyperreflexia1KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0002395Lower limb hyperreflexia1KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0002169Clonus1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0001348Brisk reflexes1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0007034Generalized hyperreflexia1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0007350Hyperreflexia in upper limbs1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0007054Hyperreflexia proximally1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0033683Jaw hyperreflexia1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0002395Lower limb hyperreflexia1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0002169Clonus1KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0001348Brisk reflexes1KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0007034Generalized hyperreflexia1KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0007350Hyperreflexia in upper limbs1KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0007054Hyperreflexia proximally1KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0033683Jaw hyperreflexia1KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0002395Lower limb hyperreflexia1KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0002169Clonus1KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0001348Brisk reflexes1KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0007034Generalized hyperreflexia1KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0007350Hyperreflexia in upper limbs1KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0007054Hyperreflexia proximally1KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0033683Jaw hyperreflexia1KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0002395Lower limb hyperreflexia1KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0002169Clonus1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0001348Brisk reflexes1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0007034Generalized hyperreflexia1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0007350Hyperreflexia in upper limbs1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0007054Hyperreflexia proximally1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0033683Jaw hyperreflexia1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0002395Lower limb hyperreflexia1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0002169Clonus1L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0001348Brisk reflexes1L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0007034Generalized hyperreflexia1L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0006801Hyperactive deep tendon reflexes1L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0007350Hyperreflexia in upper limbs1L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0007054Hyperreflexia proximally1L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0033683Jaw hyperreflexia1L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0002395Lower limb hyperreflexia1L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0002169Clonus1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0001348Brisk reflexes1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0007034Generalized hyperreflexia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0006801Hyperactive deep tendon reflexes1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0007350Hyperreflexia in upper limbs1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0007054Hyperreflexia proximally1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0033683Jaw hyperreflexia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0002395Lower limb hyperreflexia1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0002169Clonus1LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0001348Brisk reflexes1LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0007034Generalized hyperreflexia1LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0006801Hyperactive deep tendon reflexes1LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0007350Hyperreflexia in upper limbs1LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0007054Hyperreflexia proximally1LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0033683Jaw hyperreflexia1LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0002395Lower limb hyperreflexia1LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0002169Clonus1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0001348Brisk reflexes1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0007034Generalized hyperreflexia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0006801Hyperactive deep tendon reflexes1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0007350Hyperreflexia in upper limbs1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0007054Hyperreflexia proximally1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0033683Jaw hyperreflexia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0002395Lower limb hyperreflexia1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0002169Clonus1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0001348Brisk reflexes1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0007034Generalized hyperreflexia1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0006801Hyperactive deep tendon reflexes1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0007350Hyperreflexia in upper limbs1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0007054Hyperreflexia proximally1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0033683Jaw hyperreflexia1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0002395Lower limb hyperreflexia1LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0002169Clonus1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0001348Brisk reflexes1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0007034Generalized hyperreflexia1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0006801Hyperactive deep tendon reflexes1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0007350Hyperreflexia in upper limbs1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0007054Hyperreflexia proximally1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0033683Jaw hyperreflexia1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0002395Lower limb hyperreflexia1LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0002169Clonus1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0001348Brisk reflexes1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0007034Generalized hyperreflexia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0007350Hyperreflexia in upper limbs1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0007054Hyperreflexia proximally1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0033683Jaw hyperreflexia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0002395Lower limb hyperreflexia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0002169Clonus1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0001348Brisk reflexes1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0007034Generalized hyperreflexia1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0007350Hyperreflexia in upper limbs1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0007054Hyperreflexia proximally1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0033683Jaw hyperreflexia1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0002395Lower limb hyperreflexia1MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0002169Clonus1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0001348Brisk reflexes1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0007034Generalized hyperreflexia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0007350Hyperreflexia in upper limbs1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0007054Hyperreflexia proximally1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0033683Jaw hyperreflexia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0002395Lower limb hyperreflexia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0002169Clonus1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0001348Brisk reflexes1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0007034Generalized hyperreflexia1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0007350Hyperreflexia in upper limbs1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0007054Hyperreflexia proximally1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0033683Jaw hyperreflexia1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0002395Lower limb hyperreflexia1MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0002169Clonus1MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0001348Brisk reflexes1MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0007034Generalized hyperreflexia1MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0007350Hyperreflexia in upper limbs1MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0007054Hyperreflexia proximally1MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0033683Jaw hyperreflexia1MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0002395Lower limb hyperreflexia1MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0002169Clonus1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0001348Brisk reflexes1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0007034Generalized hyperreflexia1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0007350Hyperreflexia in upper limbs1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0007054Hyperreflexia proximally1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0033683Jaw hyperreflexia1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0002395Lower limb hyperreflexia1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0002169Clonus1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0001348Brisk reflexes1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0007034Generalized hyperreflexia1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0007350Hyperreflexia in upper limbs1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0007054Hyperreflexia proximally1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0033683Jaw hyperreflexia1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0002395Lower limb hyperreflexia1MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0002169Clonus1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0001348Brisk reflexes1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0007034Generalized hyperreflexia1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0007350Hyperreflexia in upper limbs1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0007054Hyperreflexia proximally1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0033683Jaw hyperreflexia1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0002395Lower limb hyperreflexia1MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0002169Clonus1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0001348Brisk reflexes1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0007034Generalized hyperreflexia1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0007350Hyperreflexia in upper limbs1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0007054Hyperreflexia proximally1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0033683Jaw hyperreflexia1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0002395Lower limb hyperreflexia1MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0002169Clonus1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0001348Brisk reflexes1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0007034Generalized hyperreflexia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0007350Hyperreflexia in upper limbs1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0007054Hyperreflexia proximally1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0033683Jaw hyperreflexia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0002395Lower limb hyperreflexia1MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0002169Clonus1MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0001348Brisk reflexes1MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0007034Generalized hyperreflexia1MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0007350Hyperreflexia in upper limbs1MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0007054Hyperreflexia proximally1MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0033683Jaw hyperreflexia1MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0002395Lower limb hyperreflexia1MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0002169Clonus1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0001348Brisk reflexes1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0007034Generalized hyperreflexia1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0007350Hyperreflexia in upper limbs1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0007054Hyperreflexia proximally1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0033683Jaw hyperreflexia1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0002395Lower limb hyperreflexia1MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0002169Clonus1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0001348Brisk reflexes1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0007034Generalized hyperreflexia1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0007350Hyperreflexia in upper limbs1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0007054Hyperreflexia proximally1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0033683Jaw hyperreflexia1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0002395Lower limb hyperreflexia1MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0002169Clonus1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0001348Brisk reflexes1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0007034Generalized hyperreflexia1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0007350Hyperreflexia in upper limbs1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0007054Hyperreflexia proximally1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0033683Jaw hyperreflexia1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0002395Lower limb hyperreflexia1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0002169Clonus1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0001348Brisk reflexes1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0007034Generalized hyperreflexia1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0007350Hyperreflexia in upper limbs1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0007054Hyperreflexia proximally1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0033683Jaw hyperreflexia1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0002395Lower limb hyperreflexia1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0002169Clonus1MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0001348Brisk reflexes1MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0007034Generalized hyperreflexia1MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0007350Hyperreflexia in upper limbs1MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0007054Hyperreflexia proximally1MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0033683Jaw hyperreflexia1MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0002395Lower limb hyperreflexia1MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0002169Clonus1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0001348Brisk reflexes1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0007034Generalized hyperreflexia1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0007350Hyperreflexia in upper limbs1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0007054Hyperreflexia proximally1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0033683Jaw hyperreflexia1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0002395Lower limb hyperreflexia1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0002169Clonus1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0001348Brisk reflexes1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0007034Generalized hyperreflexia1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0007350Hyperreflexia in upper limbs1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0007054Hyperreflexia proximally1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0033683Jaw hyperreflexia1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0002395Lower limb hyperreflexia1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0002169Clonus1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0001348Brisk reflexes1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0007034Generalized hyperreflexia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0007350Hyperreflexia in upper limbs1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0007054Hyperreflexia proximally1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0033683Jaw hyperreflexia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0002395Lower limb hyperreflexia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0002169Clonus1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0001348Brisk reflexes1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0007034Generalized hyperreflexia1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0007350Hyperreflexia in upper limbs1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0007054Hyperreflexia proximally1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0033683Jaw hyperreflexia1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0002395Lower limb hyperreflexia1MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0002169Clonus1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0001348Brisk reflexes1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0007034Generalized hyperreflexia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0007350Hyperreflexia in upper limbs1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0007054Hyperreflexia proximally1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0033683Jaw hyperreflexia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0002395Lower limb hyperreflexia1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0002169Clonus1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0001348Brisk reflexes1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0007034Generalized hyperreflexia1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0007350Hyperreflexia in upper limbs1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0007054Hyperreflexia proximally1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0033683Jaw hyperreflexia1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0002395Lower limb hyperreflexia1MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0002169Clonus1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0001348Brisk reflexes1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0007034Generalized hyperreflexia1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0007350Hyperreflexia in upper limbs1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0007054Hyperreflexia proximally1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0033683Jaw hyperreflexia1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0002395Lower limb hyperreflexia1MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0002169Clonus1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0001348Brisk reflexes1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0007034Generalized hyperreflexia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0007350Hyperreflexia in upper limbs1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0007054Hyperreflexia proximally1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0033683Jaw hyperreflexia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0002395Lower limb hyperreflexia1NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0002169Clonus1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0001348Brisk reflexes1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0007034Generalized hyperreflexia1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0007350Hyperreflexia in upper limbs1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0007054Hyperreflexia proximally1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0033683Jaw hyperreflexia1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0002395Lower limb hyperreflexia1NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0002169Clonus1NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0001348Brisk reflexes1NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0007034Generalized hyperreflexia1NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0007350Hyperreflexia in upper limbs1NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0007054Hyperreflexia proximally1NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0033683Jaw hyperreflexia1NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0002395Lower limb hyperreflexia1NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0002169Clonus1NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0001348Brisk reflexes1NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0007034Generalized hyperreflexia1NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0007054Hyperreflexia proximally1NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0033683Jaw hyperreflexia1NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0002395Lower limb hyperreflexia1NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0002169Clonus1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0001348Brisk reflexes1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0007034Generalized hyperreflexia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0007054Hyperreflexia proximally1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0033683Jaw hyperreflexia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0002169Clonus1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0001348Brisk reflexes1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0007034Generalized hyperreflexia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0007054Hyperreflexia proximally1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0033683Jaw hyperreflexia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0002169Clonus1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0001348Brisk reflexes1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0007034Generalized hyperreflexia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0007054Hyperreflexia proximally1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0033683Jaw hyperreflexia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0002169Clonus1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0001348Brisk reflexes1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0007034Generalized hyperreflexia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0007054Hyperreflexia proximally1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0033683Jaw hyperreflexia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0002169Clonus1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0001348Brisk reflexes1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0007034Generalized hyperreflexia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0007054Hyperreflexia proximally1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0033683Jaw hyperreflexia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0002169Clonus1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0001348Brisk reflexes1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0007034Generalized hyperreflexia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0007054Hyperreflexia proximally1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0033683Jaw hyperreflexia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0002169Clonus1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0001348Brisk reflexes1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0007034Generalized hyperreflexia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0007054Hyperreflexia proximally1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0033683Jaw hyperreflexia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0002169Clonus1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0001348Brisk reflexes1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0007034Generalized hyperreflexia1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0007054Hyperreflexia proximally1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0033683Jaw hyperreflexia1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0002169Clonus1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0001348Brisk reflexes1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0007034Generalized hyperreflexia1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0007054Hyperreflexia proximally1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0033683Jaw hyperreflexia1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0002169Clonus1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0001348Brisk reflexes1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0007034Generalized hyperreflexia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0007054Hyperreflexia proximally1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0033683Jaw hyperreflexia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0002169Clonus1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0001348Brisk reflexes1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0007034Generalized hyperreflexia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0007054Hyperreflexia proximally1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0033683Jaw hyperreflexia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0002169Clonus1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0001348Brisk reflexes1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0007034Generalized hyperreflexia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0007054Hyperreflexia proximally1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0033683Jaw hyperreflexia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0002169Clonus1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0001348Brisk reflexes1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0007034Generalized hyperreflexia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0007054Hyperreflexia proximally1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0033683Jaw hyperreflexia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0002169Clonus1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0001348Brisk reflexes1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0007034Generalized hyperreflexia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0007054Hyperreflexia proximally1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0033683Jaw hyperreflexia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0002169Clonus1NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0001348Brisk reflexes1NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0007034Generalized hyperreflexia1NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0007054Hyperreflexia proximally1NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0033683Jaw hyperreflexia1NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0002169Clonus1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0001348Brisk reflexes1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0007034Generalized hyperreflexia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0007054Hyperreflexia proximally1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0033683Jaw hyperreflexia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0002169Clonus1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0001348Brisk reflexes1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0007034Generalized hyperreflexia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0007054Hyperreflexia proximally1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0033683Jaw hyperreflexia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0002169Clonus1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0001348Brisk reflexes1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0007034Generalized hyperreflexia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0007054Hyperreflexia proximally1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0033683Jaw hyperreflexia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0002169Clonus1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0001348Brisk reflexes1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0007034Generalized hyperreflexia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0007054Hyperreflexia proximally1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0033683Jaw hyperreflexia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0002169Clonus1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0001348Brisk reflexes1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0007034Generalized hyperreflexia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0007054Hyperreflexia proximally1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0033683Jaw hyperreflexia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0002169Clonus1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0001348Brisk reflexes1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0007034Generalized hyperreflexia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0007054Hyperreflexia proximally1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0033683Jaw hyperreflexia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0002169Clonus1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0001348Brisk reflexes1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0007034Generalized hyperreflexia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0007054Hyperreflexia proximally1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0033683Jaw hyperreflexia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0002169Clonus1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0001348Brisk reflexes1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0007034Generalized hyperreflexia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0007054Hyperreflexia proximally1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0033683Jaw hyperreflexia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0002169Clonus1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0001348Brisk reflexes1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0007034Generalized hyperreflexia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0007350Hyperreflexia in upper limbs1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0007054Hyperreflexia proximally1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0033683Jaw hyperreflexia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0002395Lower limb hyperreflexia1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0002169Clonus1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0001348Brisk reflexes1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0007034Generalized hyperreflexia1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0007350Hyperreflexia in upper limbs1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0007054Hyperreflexia proximally1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0033683Jaw hyperreflexia1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0002395Lower limb hyperreflexia1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0002169Clonus1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0001348Brisk reflexes1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0007034Generalized hyperreflexia1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0007350Hyperreflexia in upper limbs1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0007054Hyperreflexia proximally1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0033683Jaw hyperreflexia1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0002395Lower limb hyperreflexia1NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0002169Clonus1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0001348Brisk reflexes1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0007034Generalized hyperreflexia1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0007350Hyperreflexia in upper limbs1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0007054Hyperreflexia proximally1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0033683Jaw hyperreflexia1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0002395Lower limb hyperreflexia1NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0002169Clonus1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0001348Brisk reflexes1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0007034Generalized hyperreflexia1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0007350Hyperreflexia in upper limbs1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0007054Hyperreflexia proximally1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0033683Jaw hyperreflexia1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0002395Lower limb hyperreflexia1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0002169Clonus1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0001348Brisk reflexes1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0007034Generalized hyperreflexia1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0007350Hyperreflexia in upper limbs1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0007054Hyperreflexia proximally1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0033683Jaw hyperreflexia1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0002395Lower limb hyperreflexia1NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0002169Clonus1NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0001348Brisk reflexes1NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0007034Generalized hyperreflexia1NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0007350Hyperreflexia in upper limbs1NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0007054Hyperreflexia proximally1NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0033683Jaw hyperreflexia1NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0002395Lower limb hyperreflexia1NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0002169Clonus1NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0001348Brisk reflexes1NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0007034Generalized hyperreflexia1NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0007350Hyperreflexia in upper limbs1NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0007054Hyperreflexia proximally1NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0033683Jaw hyperreflexia1NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0002395Lower limb hyperreflexia1NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0002169Clonus1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0001348Brisk reflexes1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0007034Generalized hyperreflexia1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0007350Hyperreflexia in upper limbs1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0007054Hyperreflexia proximally1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0033683Jaw hyperreflexia1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0002395Lower limb hyperreflexia1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0002169Clonus1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0001348Brisk reflexes1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0007034Generalized hyperreflexia1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0007350Hyperreflexia in upper limbs1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0007054Hyperreflexia proximally1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0033683Jaw hyperreflexia1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0002395Lower limb hyperreflexia1NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0002169Clonus1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0001348Brisk reflexes1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0007034Generalized hyperreflexia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0007350Hyperreflexia in upper limbs1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0007054Hyperreflexia proximally1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0033683Jaw hyperreflexia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0002395Lower limb hyperreflexia1NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0002169Clonus1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0001348Brisk reflexes1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0007034Generalized hyperreflexia1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0006801Hyperactive deep tendon reflexes1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0007350Hyperreflexia in upper limbs1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0007054Hyperreflexia proximally1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0033683Jaw hyperreflexia1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0002395Lower limb hyperreflexia1OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0002169Clonus1OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0001348Brisk reflexes1OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0007034Generalized hyperreflexia1OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0006801Hyperactive deep tendon reflexes1OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0007350Hyperreflexia in upper limbs1OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0007054Hyperreflexia proximally1OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0033683Jaw hyperreflexia1OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0002395Lower limb hyperreflexia1OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0002169Clonus1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0001348Brisk reflexes1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0007034Generalized hyperreflexia1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0006801Hyperactive deep tendon reflexes1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0007350Hyperreflexia in upper limbs1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0007054Hyperreflexia proximally1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0033683Jaw hyperreflexia1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0002395Lower limb hyperreflexia1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0002169Clonus1PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0001348Brisk reflexes1PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0007034Generalized hyperreflexia1PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0007350Hyperreflexia in upper limbs1PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0007054Hyperreflexia proximally1PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0033683Jaw hyperreflexia1PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0002395Lower limb hyperreflexia1PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0002169Clonus1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0001348Brisk reflexes1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0007034Generalized hyperreflexia1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0007350Hyperreflexia in upper limbs1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0007054Hyperreflexia proximally1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0033683Jaw hyperreflexia1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0002395Lower limb hyperreflexia1PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0002169Clonus1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0001348Brisk reflexes1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0007034Generalized hyperreflexia1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0007350Hyperreflexia in upper limbs1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0007054Hyperreflexia proximally1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0033683Jaw hyperreflexia1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0002395Lower limb hyperreflexia1PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0002169Clonus1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0001348Brisk reflexes1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0007034Generalized hyperreflexia1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0007350Hyperreflexia in upper limbs1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0007054Hyperreflexia proximally1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0033683Jaw hyperreflexia1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0002395Lower limb hyperreflexia1PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0002169Clonus1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0001348Brisk reflexes1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0007034Generalized hyperreflexia1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0007350Hyperreflexia in upper limbs1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0007054Hyperreflexia proximally1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0033683Jaw hyperreflexia1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0002395Lower limb hyperreflexia1PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0002169Clonus1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0001348Brisk reflexes1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0007034Generalized hyperreflexia1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0007350Hyperreflexia in upper limbs1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0007054Hyperreflexia proximally1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0033683Jaw hyperreflexia1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0002395Lower limb hyperreflexia1PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0002169Clonus1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0001348Brisk reflexes1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0007034Generalized hyperreflexia1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0007350Hyperreflexia in upper limbs1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0007054Hyperreflexia proximally1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0033683Jaw hyperreflexia1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0002395Lower limb hyperreflexia1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0002169Clonus1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0001348Brisk reflexes1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0007034Generalized hyperreflexia1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0007350Hyperreflexia in upper limbs1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0007054Hyperreflexia proximally1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0033683Jaw hyperreflexia1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0002395Lower limb hyperreflexia1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0002169Clonus1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0001348Brisk reflexes1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0007034Generalized hyperreflexia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0007350Hyperreflexia in upper limbs1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0007054Hyperreflexia proximally1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0033683Jaw hyperreflexia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0002395Lower limb hyperreflexia1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0002169Clonus1PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0001348Brisk reflexes1PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0007034Generalized hyperreflexia1PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0007350Hyperreflexia in upper limbs1PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0007054Hyperreflexia proximally1PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0033683Jaw hyperreflexia1PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0002395Lower limb hyperreflexia1PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0002169Clonus1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0001348Brisk reflexes1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0007034Generalized hyperreflexia1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0007350Hyperreflexia in upper limbs1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0007054Hyperreflexia proximally1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0033683Jaw hyperreflexia1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0002395Lower limb hyperreflexia1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0002169Clonus1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0001348Brisk reflexes1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0007034Generalized hyperreflexia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0007350Hyperreflexia in upper limbs1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0007054Hyperreflexia proximally1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0033683Jaw hyperreflexia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0002395Lower limb hyperreflexia1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0002169Clonus1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0001348Brisk reflexes1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0007034Generalized hyperreflexia1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0007054Hyperreflexia proximally1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0033683Jaw hyperreflexia1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0002395Lower limb hyperreflexia1PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0002169Clonus1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0001348Brisk reflexes1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0007034Generalized hyperreflexia1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0007054Hyperreflexia proximally1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0033683Jaw hyperreflexia1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0002395Lower limb hyperreflexia1PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0002169Clonus1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0001348Brisk reflexes1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0007034Generalized hyperreflexia1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0007054Hyperreflexia proximally1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0033683Jaw hyperreflexia1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0002395Lower limb hyperreflexia1PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0002169Clonus1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0001348Brisk reflexes1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0007034Generalized hyperreflexia1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0007054Hyperreflexia proximally1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0033683Jaw hyperreflexia1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0002395Lower limb hyperreflexia1PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0002169Clonus1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0001348Brisk reflexes1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0007034Generalized hyperreflexia1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0007054Hyperreflexia proximally1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0033683Jaw hyperreflexia1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0002395Lower limb hyperreflexia1PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0002169Clonus1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0001348Brisk reflexes1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0007034Generalized hyperreflexia1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0007054Hyperreflexia proximally1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0033683Jaw hyperreflexia1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0002395Lower limb hyperreflexia1PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0002169Clonus1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0001348Brisk reflexes1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0007034Generalized hyperreflexia1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0007054Hyperreflexia proximally1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0033683Jaw hyperreflexia1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0002395Lower limb hyperreflexia1PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0002169Clonus1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0001348Brisk reflexes1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0007034Generalized hyperreflexia1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0007054Hyperreflexia proximally1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0033683Jaw hyperreflexia1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0002395Lower limb hyperreflexia1PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0002169Clonus1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0001348Brisk reflexes1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0007034Generalized hyperreflexia1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0007054Hyperreflexia proximally1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0033683Jaw hyperreflexia1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0002395Lower limb hyperreflexia1PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0002169Clonus1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0001348Brisk reflexes1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0007034Generalized hyperreflexia1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0007054Hyperreflexia proximally1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0033683Jaw hyperreflexia1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0002395Lower limb hyperreflexia1PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0002169Clonus1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0001348Brisk reflexes1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0007034Generalized hyperreflexia1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0007054Hyperreflexia proximally1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0033683Jaw hyperreflexia1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0002395Lower limb hyperreflexia1PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0002169Clonus1PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0001348Brisk reflexes1PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0007034Generalized hyperreflexia1PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0007054Hyperreflexia proximally1PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0033683Jaw hyperreflexia1PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0002395Lower limb hyperreflexia1PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0002169Clonus1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0001348Brisk reflexes1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0007034Generalized hyperreflexia1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0007054Hyperreflexia proximally1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0033683Jaw hyperreflexia1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0002395Lower limb hyperreflexia1PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0002169Clonus1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0001348Brisk reflexes1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0007034Generalized hyperreflexia1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0007054Hyperreflexia proximally1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0033683Jaw hyperreflexia1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0002395Lower limb hyperreflexia1PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0002169Clonus1PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0001348Brisk reflexes1PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0007034Generalized hyperreflexia1PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0007350Hyperreflexia in upper limbs1PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0007054Hyperreflexia proximally1PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0033683Jaw hyperreflexia1PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0002395Lower limb hyperreflexia1PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0002169Clonus1PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0001348Brisk reflexes1PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0007034Generalized hyperreflexia1PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0007350Hyperreflexia in upper limbs1PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0007054Hyperreflexia proximally1PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0033683Jaw hyperreflexia1PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0002395Lower limb hyperreflexia1PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0002169Clonus1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0001348Brisk reflexes1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0007034Generalized hyperreflexia1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0007350Hyperreflexia in upper limbs1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0007054Hyperreflexia proximally1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0033683Jaw hyperreflexia1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0002395Lower limb hyperreflexia1PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0002169Clonus1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0001348Brisk reflexes1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0007034Generalized hyperreflexia1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0007350Hyperreflexia in upper limbs1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0007054Hyperreflexia proximally1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0033683Jaw hyperreflexia1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0002395Lower limb hyperreflexia1PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0002169Clonus1PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0001348Brisk reflexes1PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0007034Generalized hyperreflexia1PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0007350Hyperreflexia in upper limbs1PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0007054Hyperreflexia proximally1PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0033683Jaw hyperreflexia1PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0002395Lower limb hyperreflexia1PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0002169Clonus1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0001348Brisk reflexes1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0007034Generalized hyperreflexia1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0007350Hyperreflexia in upper limbs1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0007054Hyperreflexia proximally1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0033683Jaw hyperreflexia1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0002395Lower limb hyperreflexia1PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0002169Clonus1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0001348Brisk reflexes1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0007034Generalized hyperreflexia1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0007350Hyperreflexia in upper limbs1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0007054Hyperreflexia proximally1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0033683Jaw hyperreflexia1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0002395Lower limb hyperreflexia1PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0002169Clonus1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0001348Brisk reflexes1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0007034Generalized hyperreflexia1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0007350Hyperreflexia in upper limbs1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0007054Hyperreflexia proximally1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0033683Jaw hyperreflexia1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0002395Lower limb hyperreflexia1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0002169Clonus1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0001348Brisk reflexes1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0007034Generalized hyperreflexia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0007350Hyperreflexia in upper limbs1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0007054Hyperreflexia proximally1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0033683Jaw hyperreflexia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0002395Lower limb hyperreflexia1PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0002169Clonus1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0001348Brisk reflexes1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0007034Generalized hyperreflexia1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0007350Hyperreflexia in upper limbs1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0007054Hyperreflexia proximally1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0033683Jaw hyperreflexia1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0002395Lower limb hyperreflexia1PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0002169Clonus1PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0001348Brisk reflexes1PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0007034Generalized hyperreflexia1PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0007350Hyperreflexia in upper limbs1PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0007054Hyperreflexia proximally1PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0033683Jaw hyperreflexia1PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0002395Lower limb hyperreflexia1PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0002169Clonus1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0001348Brisk reflexes1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0007034Generalized hyperreflexia1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0007350Hyperreflexia in upper limbs1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0007054Hyperreflexia proximally1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0033683Jaw hyperreflexia1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0002395Lower limb hyperreflexia1PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0002169Clonus1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0001348Brisk reflexes1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0007034Generalized hyperreflexia1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0007350Hyperreflexia in upper limbs1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0007054Hyperreflexia proximally1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0033683Jaw hyperreflexia1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0002395Lower limb hyperreflexia1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0002169Clonus1PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0001348Brisk reflexes1PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0007034Generalized hyperreflexia1PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0007350Hyperreflexia in upper limbs1PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0007054Hyperreflexia proximally1PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0033683Jaw hyperreflexia1PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0002395Lower limb hyperreflexia1PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0002169Clonus1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0001348Brisk reflexes1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0007034Generalized hyperreflexia1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0007350Hyperreflexia in upper limbs1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0007054Hyperreflexia proximally1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0033683Jaw hyperreflexia1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0002395Lower limb hyperreflexia1PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0002169Clonus1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0001348Brisk reflexes1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0007034Generalized hyperreflexia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0006801Hyperactive deep tendon reflexes1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0007350Hyperreflexia in upper limbs1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0007054Hyperreflexia proximally1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0033683Jaw hyperreflexia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0002395Lower limb hyperreflexia1POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0002169Clonus1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0001348Brisk reflexes1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0007034Generalized hyperreflexia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0006801Hyperactive deep tendon reflexes1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0007350Hyperreflexia in upper limbs1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0007054Hyperreflexia proximally1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0033683Jaw hyperreflexia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0002395Lower limb hyperreflexia1POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0002169Clonus1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0001348Brisk reflexes1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0007034Generalized hyperreflexia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0006801Hyperactive deep tendon reflexes1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0007350Hyperreflexia in upper limbs1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0007054Hyperreflexia proximally1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0033683Jaw hyperreflexia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0002395Lower limb hyperreflexia1POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0002169Clonus1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0001348Brisk reflexes1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0007034Generalized hyperreflexia1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0006801Hyperactive deep tendon reflexes1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0007350Hyperreflexia in upper limbs1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0007054Hyperreflexia proximally1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0033683Jaw hyperreflexia1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0002395Lower limb hyperreflexia1POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0002169Clonus1PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0001348Brisk reflexes1PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0007034Generalized hyperreflexia1PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0007350Hyperreflexia in upper limbs1PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0007054Hyperreflexia proximally1PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0033683Jaw hyperreflexia1PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0002395Lower limb hyperreflexia1PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0002169Clonus1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0001348Brisk reflexes1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0007034Generalized hyperreflexia1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0007350Hyperreflexia in upper limbs1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0007054Hyperreflexia proximally1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0033683Jaw hyperreflexia1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0002395Lower limb hyperreflexia1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0002169Clonus1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0001348Brisk reflexes1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0007034Generalized hyperreflexia1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0007350Hyperreflexia in upper limbs1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0007054Hyperreflexia proximally1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0033683Jaw hyperreflexia1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0002395Lower limb hyperreflexia1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0002169Clonus1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0001348Brisk reflexes1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0007034Generalized hyperreflexia1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0007054Hyperreflexia proximally1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0033683Jaw hyperreflexia1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0002395Lower limb hyperreflexia1PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0002169Clonus1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0001348Brisk reflexes1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0007034Generalized hyperreflexia1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0007054Hyperreflexia proximally1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0033683Jaw hyperreflexia1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0002395Lower limb hyperreflexia1PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0002169Clonus1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0001348Brisk reflexes1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0007034Generalized hyperreflexia1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0007054Hyperreflexia proximally1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0033683Jaw hyperreflexia1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0002395Lower limb hyperreflexia1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0002169Clonus1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0001348Brisk reflexes1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0007034Generalized hyperreflexia1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0007054Hyperreflexia proximally1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0033683Jaw hyperreflexia1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0002395Lower limb hyperreflexia1PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0002169Clonus1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0001348Brisk reflexes1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0007034Generalized hyperreflexia1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0007054Hyperreflexia proximally1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0033683Jaw hyperreflexia1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0002395Lower limb hyperreflexia1PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0002169Clonus1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0001348Brisk reflexes1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0007034Generalized hyperreflexia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0007054Hyperreflexia proximally1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0033683Jaw hyperreflexia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0002395Lower limb hyperreflexia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0002169Clonus1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0001348Brisk reflexes1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0007034Generalized hyperreflexia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0007054Hyperreflexia proximally1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0033683Jaw hyperreflexia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0002395Lower limb hyperreflexia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0002169Clonus1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0001348Brisk reflexes1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0007034Generalized hyperreflexia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0007350Hyperreflexia in upper limbs1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0007054Hyperreflexia proximally1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0033683Jaw hyperreflexia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0002395Lower limb hyperreflexia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0002169Clonus1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0001348Brisk reflexes1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0007034Generalized hyperreflexia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0007350Hyperreflexia in upper limbs1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0007054Hyperreflexia proximally1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0033683Jaw hyperreflexia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0002395Lower limb hyperreflexia1PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0002169Clonus1PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0001348Brisk reflexes1PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0007034Generalized hyperreflexia1PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0007350Hyperreflexia in upper limbs1PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0007054Hyperreflexia proximally1PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0033683Jaw hyperreflexia1PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0002395Lower limb hyperreflexia1PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0002169Clonus1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0001348Brisk reflexes1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0007034Generalized hyperreflexia1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0007350Hyperreflexia in upper limbs1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0007054Hyperreflexia proximally1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0033683Jaw hyperreflexia1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0002395Lower limb hyperreflexia1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0002169Clonus1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0001348Brisk reflexes1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0007034Generalized hyperreflexia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0007350Hyperreflexia in upper limbs1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0007054Hyperreflexia proximally1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0033683Jaw hyperreflexia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0002395Lower limb hyperreflexia1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0002169Clonus1RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0001348Brisk reflexes1RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0007034Generalized hyperreflexia1RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0007350Hyperreflexia in upper limbs1RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0007054Hyperreflexia proximally1RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0033683Jaw hyperreflexia1RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0002395Lower limb hyperreflexia1RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0002169Clonus1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0001348Brisk reflexes1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0007034Generalized hyperreflexia1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0007350Hyperreflexia in upper limbs1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0007054Hyperreflexia proximally1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0033683Jaw hyperreflexia1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0002395Lower limb hyperreflexia1RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0002169Clonus1RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0001348Brisk reflexes1RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0007034Generalized hyperreflexia1RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0007350Hyperreflexia in upper limbs1RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0007054Hyperreflexia proximally1RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0033683Jaw hyperreflexia1RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0002395Lower limb hyperreflexia1RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0002169Clonus1REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0001348Brisk reflexes1REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0007034Generalized hyperreflexia1REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0006801Hyperactive deep tendon reflexes1REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0007350Hyperreflexia in upper limbs1REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0007054Hyperreflexia proximally1REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0033683Jaw hyperreflexia1REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0002395Lower limb hyperreflexia1REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0002169Clonus1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0001348Brisk reflexes1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0007034Generalized hyperreflexia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0007350Hyperreflexia in upper limbs1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0007054Hyperreflexia proximally1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0033683Jaw hyperreflexia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0002395Lower limb hyperreflexia1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0002169Clonus1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0001348Brisk reflexes1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0007034Generalized hyperreflexia1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0007350Hyperreflexia in upper limbs1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0007054Hyperreflexia proximally1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0033683Jaw hyperreflexia1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0002395Lower limb hyperreflexia1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0002169Clonus1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0001348Brisk reflexes1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0007034Generalized hyperreflexia1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0007350Hyperreflexia in upper limbs1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0007054Hyperreflexia proximally1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0033683Jaw hyperreflexia1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0002395Lower limb hyperreflexia1RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0002169Clonus1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0001348Brisk reflexes1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0007034Generalized hyperreflexia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0007350Hyperreflexia in upper limbs1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0007054Hyperreflexia proximally1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0033683Jaw hyperreflexia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0002395Lower limb hyperreflexia1RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0002169Clonus1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0001348Brisk reflexes1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0007034Generalized hyperreflexia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0007350Hyperreflexia in upper limbs1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0007054Hyperreflexia proximally1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0033683Jaw hyperreflexia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0002395Lower limb hyperreflexia1RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0002169Clonus1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0001348Brisk reflexes1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0007034Generalized hyperreflexia1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0007350Hyperreflexia in upper limbs1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0007054Hyperreflexia proximally1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0033683Jaw hyperreflexia1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0002395Lower limb hyperreflexia1RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0002169Clonus1RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0001348Brisk reflexes1RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0007034Generalized hyperreflexia1RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0007350Hyperreflexia in upper limbs1RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0007054Hyperreflexia proximally1RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0033683Jaw hyperreflexia1RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0002395Lower limb hyperreflexia1RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0002169Clonus1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0001348Brisk reflexes1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0007034Generalized hyperreflexia1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0007350Hyperreflexia in upper limbs1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0007054Hyperreflexia proximally1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0033683Jaw hyperreflexia1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0002395Lower limb hyperreflexia1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0002169Clonus1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0001348Brisk reflexes1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0007034Generalized hyperreflexia1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0007350Hyperreflexia in upper limbs1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0007054Hyperreflexia proximally1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0033683Jaw hyperreflexia1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0002395Lower limb hyperreflexia1RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0002169Clonus1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0001348Brisk reflexes1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0007034Generalized hyperreflexia1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0007350Hyperreflexia in upper limbs1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0007054Hyperreflexia proximally1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0033683Jaw hyperreflexia1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0002395Lower limb hyperreflexia1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0002169Clonus1SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0001348Brisk reflexes1SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0007034Generalized hyperreflexia1SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0007350Hyperreflexia in upper limbs1SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0007054Hyperreflexia proximally1SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0033683Jaw hyperreflexia1SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0002395Lower limb hyperreflexia1SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0002169Clonus1SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0001348Brisk reflexes1SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0007034Generalized hyperreflexia1SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0007350Hyperreflexia in upper limbs1SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0007054Hyperreflexia proximally1SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0033683Jaw hyperreflexia1SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0002395Lower limb hyperreflexia1SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0002169Clonus1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0001348Brisk reflexes1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0007034Generalized hyperreflexia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0007350Hyperreflexia in upper limbs1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0007054Hyperreflexia proximally1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0033683Jaw hyperreflexia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0002395Lower limb hyperreflexia1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0002169Clonus1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0001348Brisk reflexes1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0007034Generalized hyperreflexia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0007350Hyperreflexia in upper limbs1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0007054Hyperreflexia proximally1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0033683Jaw hyperreflexia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0002395Lower limb hyperreflexia1SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0002169Clonus1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0001348Brisk reflexes1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0007034Generalized hyperreflexia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0007350Hyperreflexia in upper limbs1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0007054Hyperreflexia proximally1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0033683Jaw hyperreflexia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0002395Lower limb hyperreflexia1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0002169Clonus1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0001348Brisk reflexes1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0007034Generalized hyperreflexia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0007350Hyperreflexia in upper limbs1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0007054Hyperreflexia proximally1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0033683Jaw hyperreflexia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0002395Lower limb hyperreflexia1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0002169Clonus1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0001348Brisk reflexes1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0007034Generalized hyperreflexia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0007350Hyperreflexia in upper limbs1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0007054Hyperreflexia proximally1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0033683Jaw hyperreflexia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0002395Lower limb hyperreflexia1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0002169Clonus1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0001348Brisk reflexes1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0007034Generalized hyperreflexia1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0007350Hyperreflexia in upper limbs1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0007054Hyperreflexia proximally1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0033683Jaw hyperreflexia1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0002395Lower limb hyperreflexia1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0002169Clonus1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0001348Brisk reflexes1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0007034Generalized hyperreflexia1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0007350Hyperreflexia in upper limbs1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0007054Hyperreflexia proximally1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0033683Jaw hyperreflexia1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0002395Lower limb hyperreflexia1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0002169Clonus1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0001348Brisk reflexes1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0007034Generalized hyperreflexia1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0007350Hyperreflexia in upper limbs1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0007054Hyperreflexia proximally1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0033683Jaw hyperreflexia1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0002395Lower limb hyperreflexia1SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0002169Clonus1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0001348Brisk reflexes1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0007034Generalized hyperreflexia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0007350Hyperreflexia in upper limbs1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0007054Hyperreflexia proximally1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0033683Jaw hyperreflexia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0002395Lower limb hyperreflexia1SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0002169Clonus1SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0001348Brisk reflexes1SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0007034Generalized hyperreflexia1SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0007054Hyperreflexia proximally1SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0033683Jaw hyperreflexia1SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0002395Lower limb hyperreflexia1SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0002169Clonus1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0001348Brisk reflexes1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0007034Generalized hyperreflexia1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0007054Hyperreflexia proximally1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0033683Jaw hyperreflexia1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0002395Lower limb hyperreflexia1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0002169Clonus1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0001348Brisk reflexes1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0007034Generalized hyperreflexia1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0007054Hyperreflexia proximally1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0033683Jaw hyperreflexia1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0002395Lower limb hyperreflexia1SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0002169Clonus1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0001348Brisk reflexes1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0007034Generalized hyperreflexia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0007054Hyperreflexia proximally1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0033683Jaw hyperreflexia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0002395Lower limb hyperreflexia1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0002169Clonus1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0001348Brisk reflexes1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0007034Generalized hyperreflexia1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0007054Hyperreflexia proximally1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0033683Jaw hyperreflexia1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0002395Lower limb hyperreflexia1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0002169Clonus1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0001348Brisk reflexes1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0007034Generalized hyperreflexia1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0007054Hyperreflexia proximally1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0033683Jaw hyperreflexia1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0002395Lower limb hyperreflexia1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0002169Clonus1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0001348Brisk reflexes1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0007034Generalized hyperreflexia1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0007054Hyperreflexia proximally1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0033683Jaw hyperreflexia1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0002395Lower limb hyperreflexia1SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0002169Clonus1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0001348Brisk reflexes1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0007034Generalized hyperreflexia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0007054Hyperreflexia proximally1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0033683Jaw hyperreflexia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0002395Lower limb hyperreflexia1SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0002169Clonus1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0001348Brisk reflexes1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0007034Generalized hyperreflexia1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0007054Hyperreflexia proximally1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0033683Jaw hyperreflexia1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0002395Lower limb hyperreflexia1SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0002169Clonus1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0001348Brisk reflexes1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0007034Generalized hyperreflexia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0007054Hyperreflexia proximally1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0033683Jaw hyperreflexia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0002395Lower limb hyperreflexia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0002169Clonus1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0001348Brisk reflexes1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0007034Generalized hyperreflexia1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0007054Hyperreflexia proximally1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0033683Jaw hyperreflexia1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0002395Lower limb hyperreflexia1SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0002169Clonus1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0001348Brisk reflexes1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0007034Generalized hyperreflexia1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0007054Hyperreflexia proximally1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0033683Jaw hyperreflexia1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0002395Lower limb hyperreflexia1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0002169Clonus1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0001348Brisk reflexes1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0007034Generalized hyperreflexia1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0007054Hyperreflexia proximally1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0033683Jaw hyperreflexia1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0002395Lower limb hyperreflexia1SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0002169Clonus1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0001348Brisk reflexes1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0007034Generalized hyperreflexia1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0007054Hyperreflexia proximally1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0033683Jaw hyperreflexia1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0002395Lower limb hyperreflexia1SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0002169Clonus1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0001348Brisk reflexes1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0007034Generalized hyperreflexia1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0007054Hyperreflexia proximally1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0033683Jaw hyperreflexia1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0002395Lower limb hyperreflexia1SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0002169Clonus1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0001348Brisk reflexes1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0007034Generalized hyperreflexia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0007350Hyperreflexia in upper limbs1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0007054Hyperreflexia proximally1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0033683Jaw hyperreflexia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0002395Lower limb hyperreflexia1SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0002169Clonus1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0001348Brisk reflexes1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0007034Generalized hyperreflexia1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0007350Hyperreflexia in upper limbs1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0007054Hyperreflexia proximally1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0033683Jaw hyperreflexia1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0002395Lower limb hyperreflexia1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0002169Clonus1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0001348Brisk reflexes1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0007034Generalized hyperreflexia1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0007054Hyperreflexia proximally1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0033683Jaw hyperreflexia1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0002395Lower limb hyperreflexia1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0002169Clonus1SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0001348Brisk reflexes1SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0007034Generalized hyperreflexia1SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0007054Hyperreflexia proximally1SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0033683Jaw hyperreflexia1SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0002395Lower limb hyperreflexia1SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0002169Clonus1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0001348Brisk reflexes1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0007034Generalized hyperreflexia1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0007054Hyperreflexia proximally1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0033683Jaw hyperreflexia1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0002395Lower limb hyperreflexia1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0002169Clonus1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0001348Brisk reflexes1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0007034Generalized hyperreflexia1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0007054Hyperreflexia proximally1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0033683Jaw hyperreflexia1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0002395Lower limb hyperreflexia1SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0002169Clonus1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0001348Brisk reflexes1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0007034Generalized hyperreflexia1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0007054Hyperreflexia proximally1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0033683Jaw hyperreflexia1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0002395Lower limb hyperreflexia1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0002169Clonus1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0001348Brisk reflexes1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0007034Generalized hyperreflexia1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0007054Hyperreflexia proximally1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0033683Jaw hyperreflexia1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0002395Lower limb hyperreflexia1SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0002169Clonus1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0001348Brisk reflexes1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0007034Generalized hyperreflexia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0007054Hyperreflexia proximally1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0033683Jaw hyperreflexia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0002395Lower limb hyperreflexia1SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0002169Clonus1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0001348Brisk reflexes1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0007034Generalized hyperreflexia1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0007054Hyperreflexia proximally1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0033683Jaw hyperreflexia1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0002395Lower limb hyperreflexia1SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0002169Clonus1SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0001348Brisk reflexes1SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0007034Generalized hyperreflexia1SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0007054Hyperreflexia proximally1SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0033683Jaw hyperreflexia1SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0002395Lower limb hyperreflexia1SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0002169Clonus1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0001348Brisk reflexes1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0007034Generalized hyperreflexia1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0007054Hyperreflexia proximally1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0033683Jaw hyperreflexia1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0002395Lower limb hyperreflexia1SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0002169Clonus1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0001348Brisk reflexes1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0007034Generalized hyperreflexia1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0007054Hyperreflexia proximally1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0033683Jaw hyperreflexia1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0002395Lower limb hyperreflexia1SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0002169Clonus1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0001348Brisk reflexes1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0007034Generalized hyperreflexia1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0007054Hyperreflexia proximally1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0033683Jaw hyperreflexia1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0002395Lower limb hyperreflexia1SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0002169Clonus1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0001348Brisk reflexes1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0007034Generalized hyperreflexia1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0007350Hyperreflexia in upper limbs1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0007054Hyperreflexia proximally1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0033683Jaw hyperreflexia1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0002395Lower limb hyperreflexia1SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0002169Clonus1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0001348Brisk reflexes1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0007034Generalized hyperreflexia1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0007350Hyperreflexia in upper limbs1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0007054Hyperreflexia proximally1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0033683Jaw hyperreflexia1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0002395Lower limb hyperreflexia1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0002169Clonus1STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0001348Brisk reflexes1STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0007034Generalized hyperreflexia1STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0006801Hyperactive deep tendon reflexes1STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0007350Hyperreflexia in upper limbs1STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0007054Hyperreflexia proximally1STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0033683Jaw hyperreflexia1STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0002395Lower limb hyperreflexia1STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0002169Clonus1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0001348Brisk reflexes1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0007034Generalized hyperreflexia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0007350Hyperreflexia in upper limbs1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0007054Hyperreflexia proximally1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0033683Jaw hyperreflexia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0002395Lower limb hyperreflexia1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0002169Clonus1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0001348Brisk reflexes1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0007034Generalized hyperreflexia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0007350Hyperreflexia in upper limbs1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0007054Hyperreflexia proximally1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0033683Jaw hyperreflexia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0002395Lower limb hyperreflexia1SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0002169Clonus1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0001348Brisk reflexes1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0007034Generalized hyperreflexia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0007350Hyperreflexia in upper limbs1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0007054Hyperreflexia proximally1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0033683Jaw hyperreflexia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0002395Lower limb hyperreflexia1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0002169Clonus1TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0001348Brisk reflexes1TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0007034Generalized hyperreflexia1TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0007350Hyperreflexia in upper limbs1TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0007054Hyperreflexia proximally1TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0033683Jaw hyperreflexia1TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0002395Lower limb hyperreflexia1TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0002169Clonus1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0001348Brisk reflexes1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0007034Generalized hyperreflexia1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0007350Hyperreflexia in upper limbs1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0007054Hyperreflexia proximally1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0033683Jaw hyperreflexia1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0002395Lower limb hyperreflexia1TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0002169Clonus1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0001348Brisk reflexes1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0007034Generalized hyperreflexia1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0007350Hyperreflexia in upper limbs1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0007054Hyperreflexia proximally1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0033683Jaw hyperreflexia1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0002395Lower limb hyperreflexia1TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0002169Clonus1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0001348Brisk reflexes1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0007034Generalized hyperreflexia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0007350Hyperreflexia in upper limbs1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0007054Hyperreflexia proximally1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0033683Jaw hyperreflexia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0002395Lower limb hyperreflexia1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0002169Clonus1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0001348Brisk reflexes1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0007034Generalized hyperreflexia1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0007350Hyperreflexia in upper limbs1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0007054Hyperreflexia proximally1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0033683Jaw hyperreflexia1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0002395Lower limb hyperreflexia1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0002169Clonus1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0001348Brisk reflexes1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0007034Generalized hyperreflexia1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0007350Hyperreflexia in upper limbs1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0007054Hyperreflexia proximally1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0033683Jaw hyperreflexia1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0002395Lower limb hyperreflexia1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0002169Clonus1TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0001348Brisk reflexes1TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0007034Generalized hyperreflexia1TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0007350Hyperreflexia in upper limbs1TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0007054Hyperreflexia proximally1TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0033683Jaw hyperreflexia1TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0002395Lower limb hyperreflexia1TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0002169Clonus1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0001348Brisk reflexes1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0007034Generalized hyperreflexia1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0007350Hyperreflexia in upper limbs1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0007054Hyperreflexia proximally1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0033683Jaw hyperreflexia1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0002395Lower limb hyperreflexia1TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0002169Clonus1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0001348Brisk reflexes1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0007034Generalized hyperreflexia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0007350Hyperreflexia in upper limbs1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0007054Hyperreflexia proximally1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0033683Jaw hyperreflexia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0002395Lower limb hyperreflexia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0002169Clonus1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0001348Brisk reflexes1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0007034Generalized hyperreflexia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0007350Hyperreflexia in upper limbs1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0007054Hyperreflexia proximally1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0033683Jaw hyperreflexia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0002395Lower limb hyperreflexia1TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0002169Clonus1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0001348Brisk reflexes1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0007034Generalized hyperreflexia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0007350Hyperreflexia in upper limbs1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0007054Hyperreflexia proximally1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0033683Jaw hyperreflexia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0002395Lower limb hyperreflexia1TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0002169Clonus1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0001348Brisk reflexes1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0007034Generalized hyperreflexia1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0007350Hyperreflexia in upper limbs1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0007054Hyperreflexia proximally1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0033683Jaw hyperreflexia1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0002395Lower limb hyperreflexia1TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0002169Clonus1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0001348Brisk reflexes1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0007034Generalized hyperreflexia1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0007350Hyperreflexia in upper limbs1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0007054Hyperreflexia proximally1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0033683Jaw hyperreflexia1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0002395Lower limb hyperreflexia1TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0002169Clonus1TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0001348Brisk reflexes1TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0007034Generalized hyperreflexia1TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0007350Hyperreflexia in upper limbs1TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0007054Hyperreflexia proximally1TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0033683Jaw hyperreflexia1TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0002395Lower limb hyperreflexia1TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0002169Clonus1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0001348Brisk reflexes1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0007034Generalized hyperreflexia1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0007350Hyperreflexia in upper limbs1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0007054Hyperreflexia proximally1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0033683Jaw hyperreflexia1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0002395Lower limb hyperreflexia1TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0002169Clonus1TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0001348Brisk reflexes1TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0007034Generalized hyperreflexia1TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0007350Hyperreflexia in upper limbs1TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0007054Hyperreflexia proximally1TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0033683Jaw hyperreflexia1TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0002395Lower limb hyperreflexia1TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0002169Clonus1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0001348Brisk reflexes1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0007034Generalized hyperreflexia1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0007350Hyperreflexia in upper limbs1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0007054Hyperreflexia proximally1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0033683Jaw hyperreflexia1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0002395Lower limb hyperreflexia1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0002169Clonus1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0001348Brisk reflexes1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0007034Generalized hyperreflexia1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0007350Hyperreflexia in upper limbs1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0007054Hyperreflexia proximally1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0033683Jaw hyperreflexia1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0002395Lower limb hyperreflexia1TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0002169Clonus1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0001348Brisk reflexes1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0007034Generalized hyperreflexia1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0007350Hyperreflexia in upper limbs1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0007054Hyperreflexia proximally1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0033683Jaw hyperreflexia1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0002395Lower limb hyperreflexia1TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0002169Clonus1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0001348Brisk reflexes1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0007034Generalized hyperreflexia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0006801Hyperactive deep tendon reflexes1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0007350Hyperreflexia in upper limbs1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0007054Hyperreflexia proximally1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0033683Jaw hyperreflexia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0002395Lower limb hyperreflexia1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0002169Clonus1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0001348Brisk reflexes1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0007034Generalized hyperreflexia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0006801Hyperactive deep tendon reflexes1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0007350Hyperreflexia in upper limbs1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0007054Hyperreflexia proximally1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0033683Jaw hyperreflexia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0002395Lower limb hyperreflexia1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0002169Clonus1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0001348Brisk reflexes1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0007034Generalized hyperreflexia1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0006801Hyperactive deep tendon reflexes1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0007350Hyperreflexia in upper limbs1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0007054Hyperreflexia proximally1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0033683Jaw hyperreflexia1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0002395Lower limb hyperreflexia1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0002169Clonus1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0001348Brisk reflexes1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0007034Generalized hyperreflexia1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0006801Hyperactive deep tendon reflexes1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0007350Hyperreflexia in upper limbs1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0007054Hyperreflexia proximally1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0033683Jaw hyperreflexia1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0002395Lower limb hyperreflexia1VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0002169Clonus1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0001348Brisk reflexes1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0007034Generalized hyperreflexia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0006801Hyperactive deep tendon reflexes1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0007350Hyperreflexia in upper limbs1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0007054Hyperreflexia proximally1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0033683Jaw hyperreflexia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0002395Lower limb hyperreflexia1VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0002169Clonus1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0001348Brisk reflexes1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0007034Generalized hyperreflexia1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0006801Hyperactive deep tendon reflexes1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0007350Hyperreflexia in upper limbs1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0007054Hyperreflexia proximally1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0033683Jaw hyperreflexia1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0002395Lower limb hyperreflexia1VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0002169Clonus1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0001348Brisk reflexes1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0007034Generalized hyperreflexia1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0006801Hyperactive deep tendon reflexes1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0007350Hyperreflexia in upper limbs1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0007054Hyperreflexia proximally1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0033683Jaw hyperreflexia1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0002395Lower limb hyperreflexia1VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0002169Clonus1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0001348Brisk reflexes1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0007034Generalized hyperreflexia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0006801Hyperactive deep tendon reflexes1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0007350Hyperreflexia in upper limbs1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0007054Hyperreflexia proximally1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0033683Jaw hyperreflexia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0002395Lower limb hyperreflexia1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0002169Clonus1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0001348Brisk reflexes1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0007034Generalized hyperreflexia1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0006801Hyperactive deep tendon reflexes1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0007350Hyperreflexia in upper limbs1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0007054Hyperreflexia proximally1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0033683Jaw hyperreflexia1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0002395Lower limb hyperreflexia1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0002169Clonus1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0001348Brisk reflexes1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0007034Generalized hyperreflexia1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0006801Hyperactive deep tendon reflexes1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0007350Hyperreflexia in upper limbs1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0007054Hyperreflexia proximally1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0033683Jaw hyperreflexia1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0002395Lower limb hyperreflexia1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0002169Clonus1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0001348Brisk reflexes1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0007034Generalized hyperreflexia1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0006801Hyperactive deep tendon reflexes1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0007350Hyperreflexia in upper limbs1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0007054Hyperreflexia proximally1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0033683Jaw hyperreflexia1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0002395Lower limb hyperreflexia1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0002169Clonus1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0001348Brisk reflexes1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0007034Generalized hyperreflexia1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0006801Hyperactive deep tendon reflexes1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0007350Hyperreflexia in upper limbs1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0007054Hyperreflexia proximally1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0033683Jaw hyperreflexia1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0002395Lower limb hyperreflexia1WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0002169Clonus1WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0001348Brisk reflexes1WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0007034Generalized hyperreflexia1WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0006801Hyperactive deep tendon reflexes1WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0007350Hyperreflexia in upper limbs1WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0007054Hyperreflexia proximally1WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0033683Jaw hyperreflexia1WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0002395Lower limb hyperreflexia1WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0002169Clonus1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0001348Brisk reflexes1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0007034Generalized hyperreflexia1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0006801Hyperactive deep tendon reflexes1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0007350Hyperreflexia in upper limbs1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0007054Hyperreflexia proximally1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0033683Jaw hyperreflexia1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0002395Lower limb hyperreflexia1WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0002169Clonus1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0001348Brisk reflexes1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0007034Generalized hyperreflexia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0006801Hyperactive deep tendon reflexes1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0007350Hyperreflexia in upper limbs1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0007054Hyperreflexia proximally1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0033683Jaw hyperreflexia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0002395Lower limb hyperreflexia1WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0002169Clonus1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0001348Brisk reflexes1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0007034Generalized hyperreflexia1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0006801Hyperactive deep tendon reflexes1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0007350Hyperreflexia in upper limbs1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0007054Hyperreflexia proximally1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0033683Jaw hyperreflexia1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0002395Lower limb hyperreflexia1WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0002169Clonus1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0001348Brisk reflexes1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0007034Generalized hyperreflexia1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0006801Hyperactive deep tendon reflexes1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0007350Hyperreflexia in upper limbs1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0007054Hyperreflexia proximally1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0033683Jaw hyperreflexia1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0002395Lower limb hyperreflexia1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0002169Clonus1ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0001348Brisk reflexes1ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0007034Generalized hyperreflexia1ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0007350Hyperreflexia in upper limbs1ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0007054Hyperreflexia proximally1ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0033683Jaw hyperreflexia1ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0002395Lower limb hyperreflexia1ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0002169Clonus1ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0001348Brisk reflexes1ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0007034Generalized hyperreflexia1ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0007350Hyperreflexia in upper limbs1ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0007054Hyperreflexia proximally1ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0033683Jaw hyperreflexia1ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0002395Lower limb hyperreflexia1ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0002169Clonus1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0001348Brisk reflexes1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0007034Generalized hyperreflexia1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0007350Hyperreflexia in upper limbs1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0007054Hyperreflexia proximally1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0033683Jaw hyperreflexia1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0002395Lower limb hyperreflexia1ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0011448Ankle clonus2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0011728Elbow clonus2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0011449Knee clonus2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0033205Biceps hyperreflexia2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0033203Brachioradialis hyperreflexia2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0033204Triceps hyperreflexia2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0033206Hyperactive Achilles reflex2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0007083Hyperactive patellar reflex2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM121713666605378
HP:0001347HP:0011448Ankle clonus2ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0011728Elbow clonus2ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0011449Knee clonus2ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0033205Biceps hyperreflexia2ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0033203Brachioradialis hyperreflexia2ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0033204Triceps hyperreflexia2ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0033206Hyperactive Achilles reflex2ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0007083Hyperactive patellar reflex2ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM173823137150
HP:0001347HP:0011448Ankle clonus2ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0011728Elbow clonus2ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0011449Knee clonus2ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0033205Biceps hyperreflexia2ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0033203Brachioradialis hyperreflexia2ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0033204Triceps hyperreflexia2ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0033206Hyperactive Achilles reflex2ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0007083Hyperactive patellar reflex2ABCB7 CL E G H222802ORPHA129948300135
HP:0001347HP:0011448Ankle clonus2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0011728Elbow clonus2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0011449Knee clonus2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0033205Biceps hyperreflexia2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0033203Brachioradialis hyperreflexia2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0033204Triceps hyperreflexia2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0033206Hyperactive Achilles reflex2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0007083Hyperactive patellar reflex2ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1189259600509
HP:0001347HP:0011448Ankle clonus2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0011728Elbow clonus2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0011449Knee clonus2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0033205Biceps hyperreflexia2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0033203Brachioradialis hyperreflexia2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0033204Triceps hyperreflexia2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0033206Hyperactive Achilles reflex2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0007083Hyperactive patellar reflex2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM152915868613599
HP:0001347HP:0011448Ankle clonus2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0011728Elbow clonus2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0011449Knee clonus2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0033205Biceps hyperreflexia2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0033203Brachioradialis hyperreflexia2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0033204Triceps hyperreflexia2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0033206Hyperactive Achilles reflex2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0007083Hyperactive patellar reflex2ACOX1 CL E G H512971ORPHA1665119609751
HP:0001347HP:0011448Ankle clonus2ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0011728Elbow clonus2ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0011449Knee clonus2ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0033205Biceps hyperreflexia2ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0033203Brachioradialis hyperreflexia2ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0033204Triceps hyperreflexia2ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0033206Hyperactive Achilles reflex2ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0007083Hyperactive patellar reflex2ACSL4 CL E G H2182300387Mental retardation 63, X-linked300387C1845672OMIM12883571300157
HP:0001347HP:0011448Ankle clonus2ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0011728Elbow clonus2ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0011449Knee clonus2ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0033205Biceps hyperreflexia2ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0033203Brachioradialis hyperreflexia2ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0033204Triceps hyperreflexia2ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0033206Hyperactive Achilles reflex2ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0007083Hyperactive patellar reflex2ADAR CL E G H103225154ORPHA11122225146920
HP:0001347HP:0011448Ankle clonus2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0011728Elbow clonus2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0011449Knee clonus2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0033205Biceps hyperreflexia2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0033203Brachioradialis hyperreflexia2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0033204Triceps hyperreflexia2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0033206Hyperactive Achilles reflex2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0007083Hyperactive patellar reflex2ADGRG1 CL E G H9289606854Polymicrogyria, bilateral frontoparietal606854C1847352OMIM17834512604110
HP:0001347HP:0011448Ankle clonus2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0011728Elbow clonus2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0011449Knee clonus2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0033205Biceps hyperreflexia2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0033204Triceps hyperreflexia2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0033206Hyperactive Achilles reflex2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0007083Hyperactive patellar reflex2ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM15869722138250
HP:0001347HP:0011448Ankle clonus2ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0011728Elbow clonus2ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0011449Knee clonus2ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0033205Biceps hyperreflexia2ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0033204Triceps hyperreflexia2ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0033206Hyperactive Achilles reflex2ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0007083Hyperactive patellar reflex2ALDH18A1 CL E G H5832601162Spastic paraplegia 9601162C1832669OMIM15869722138250
HP:0001347HP:0011448Ankle clonus2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0011728Elbow clonus2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0011449Knee clonus2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0033205Biceps hyperreflexia2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0033204Triceps hyperreflexia2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0033206Hyperactive Achilles reflex2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0007083Hyperactive patellar reflex2ALDH18A1 CL E G H5832616586Spastic paraplegia 9b, autosomal recessive616586C4225272OMIM15869722138250
HP:0001347HP:0011448Ankle clonus2ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0011728Elbow clonus2ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0011449Knee clonus2ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0033205Biceps hyperreflexia2ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0033204Triceps hyperreflexia2ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0033206Hyperactive Achilles reflex2ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0007083Hyperactive patellar reflex2ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM133523159607905
HP:0001347HP:0011448Ankle clonus2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0011728Elbow clonus2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0011449Knee clonus2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0033205Biceps hyperreflexia2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0033204Triceps hyperreflexia2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0033206Hyperactive Achilles reflex2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0007083Hyperactive patellar reflex2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM121923056608750
HP:0001347HP:0011448Ankle clonus2ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0011728Elbow clonus2ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0011449Knee clonus2ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0033205Biceps hyperreflexia2ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0033204Triceps hyperreflexia2ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0033206Hyperactive Achilles reflex2ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0007083Hyperactive patellar reflex2ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM131215672606941
HP:0001347HP:0011448Ankle clonus2ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0011728Elbow clonus2ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0011449Knee clonus2ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0033205Biceps hyperreflexia2ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0033204Triceps hyperreflexia2ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0033206Hyperactive Achilles reflex2ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0007083Hyperactive patellar reflex2ALS2 CL E G H57679247604ORPHA1947443606352
HP:0001347HP:0011448Ankle clonus2ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0011728Elbow clonus2ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0011449Knee clonus2ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0033205Biceps hyperreflexia2ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0033204Triceps hyperreflexia2ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0033206Hyperactive Achilles reflex2ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0007083Hyperactive patellar reflex2ALS2 CL E G H57679293168ORPHA1947443606352
HP:0001347HP:0011448Ankle clonus2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0011728Elbow clonus2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0011449Knee clonus2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0033205Biceps hyperreflexia2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0033204Triceps hyperreflexia2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0033206Hyperactive Achilles reflex2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0007083Hyperactive patellar reflex2ALS2 CL E G H57679205100Amyotrophic lateral sclerosis type 2205100C1859807OMIM1947443606352
HP:0001347HP:0011448Ankle clonus2ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0011728Elbow clonus2ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0011449Knee clonus2ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0033205Biceps hyperreflexia2ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0033204Triceps hyperreflexia2ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0033206Hyperactive Achilles reflex2ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0007083Hyperactive patellar reflex2ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM1947443606352
HP:0001347HP:0011448Ankle clonus2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0011728Elbow clonus2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0011449Knee clonus2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0033205Biceps hyperreflexia2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0033204Triceps hyperreflexia2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0033206Hyperactive Achilles reflex2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0007083Hyperactive patellar reflex2ALS2 CL E G H57679300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1947443606352
HP:0001347HP:0011448Ankle clonus2ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0011728Elbow clonus2ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0011449Knee clonus2ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0033205Biceps hyperreflexia2ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0033203Brachioradialis hyperreflexia2ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0033204Triceps hyperreflexia2ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0033206Hyperactive Achilles reflex2ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0007083Hyperactive patellar reflex2ALS2 CL E G H57679606353Juvenile primary lateral sclerosis606353C1853396OMIM1947443606352
HP:0001347HP:0011448Ankle clonus2AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0011728Elbow clonus2AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0011449Knee clonus2AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0033205Biceps hyperreflexia2AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0033203Brachioradialis hyperreflexia2AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0033204Triceps hyperreflexia2AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0033206Hyperactive Achilles reflex2AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0007083Hyperactive patellar reflex2AMPD2 CL E G H271401805ORPHA1392469102771
HP:0001347HP:0011448Ankle clonus2AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0011728Elbow clonus2AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0011449Knee clonus2AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0033205Biceps hyperreflexia2AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0033203Brachioradialis hyperreflexia2AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0033204Triceps hyperreflexia2AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0033206Hyperactive Achilles reflex2AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0007083Hyperactive patellar reflex2AMPD2 CL E G H271615686Spastic paraplegia 63, autosomal recessive615686C3810295OMIM1392469102771
HP:0001347HP:0011448Ankle clonus2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0011728Elbow clonus2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0011449Knee clonus2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0033205Biceps hyperreflexia2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0033203Brachioradialis hyperreflexia2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0033204Triceps hyperreflexia2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0033206Hyperactive Achilles reflex2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0007083Hyperactive patellar reflex2AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1591473238310
HP:0001347HP:0011448Ankle clonus2ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0011728Elbow clonus2ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0011449Knee clonus2ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0033205Biceps hyperreflexia2ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0033203Brachioradialis hyperreflexia2ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0033204Triceps hyperreflexia2ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0033206Hyperactive Achilles reflex2ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0007083Hyperactive patellar reflex2ANKLE2 CL E G H231412512ORPHA124129101616062
HP:0001347HP:0011448Ankle clonus2ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0011728Elbow clonus2ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0011449Knee clonus2ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0033205Biceps hyperreflexia2ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0033203Brachioradialis hyperreflexia2ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0033204Triceps hyperreflexia2ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0033206Hyperactive Achilles reflex2ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0007083Hyperactive patellar reflex2ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM127025519613726
HP:0001347HP:0011448Ankle clonus2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0011728Elbow clonus2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0011449Knee clonus2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0033205Biceps hyperreflexia2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0033203Brachioradialis hyperreflexia2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0033204Triceps hyperreflexia2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0033206Hyperactive Achilles reflex2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0007083Hyperactive patellar reflex2AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1241560300629
HP:0001347HP:0011448Ankle clonus2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0011728Elbow clonus2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0011449Knee clonus2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0033205Biceps hyperreflexia2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0033203Brachioradialis hyperreflexia2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0033204Triceps hyperreflexia2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0033206Hyperactive Achilles reflex2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0007083Hyperactive patellar reflex2AP4B1 CL E G H10717280763ORPHA1403572607245
HP:0001347HP:0011448Ankle clonus2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0011728Elbow clonus2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0011449Knee clonus2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0033205Biceps hyperreflexia2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0033203Brachioradialis hyperreflexia2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0033204Triceps hyperreflexia2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0033206Hyperactive Achilles reflex2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0007083Hyperactive patellar reflex2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1403572607245
HP:0001347HP:0011448Ankle clonus2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0011728Elbow clonus2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0011449Knee clonus2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0033205Biceps hyperreflexia2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0033203Brachioradialis hyperreflexia2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0033204Triceps hyperreflexia2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0033206Hyperactive Achilles reflex2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0007083Hyperactive patellar reflex2AP4E1 CL E G H23431280763ORPHA1509573607244
HP:0001347HP:0011448Ankle clonus2AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0011728Elbow clonus2AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0011449Knee clonus2AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0033205Biceps hyperreflexia2AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0033203Brachioradialis hyperreflexia2AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0033204Triceps hyperreflexia2AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0033206Hyperactive Achilles reflex2AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0007083Hyperactive patellar reflex2AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1509573607244
HP:0001347HP:0011448Ankle clonus2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0011728Elbow clonus2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0011449Knee clonus2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0033205Biceps hyperreflexia2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0033203Brachioradialis hyperreflexia2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0033204Triceps hyperreflexia2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0033206Hyperactive Achilles reflex2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0007083Hyperactive patellar reflex2AP4M1 CL E G H9179280763ORPHA1429574602296
HP:0001347HP:0011448Ankle clonus2AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0011728Elbow clonus2AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0011449Knee clonus2AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0033205Biceps hyperreflexia2AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0033203Brachioradialis hyperreflexia2AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0033204Triceps hyperreflexia2AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0033206Hyperactive Achilles reflex2AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0007083Hyperactive patellar reflex2AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1429574602296
HP:0001347HP:0011448Ankle clonus2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0011728Elbow clonus2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0011449Knee clonus2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0033205Biceps hyperreflexia2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0033203Brachioradialis hyperreflexia2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0033204Triceps hyperreflexia2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0033206Hyperactive Achilles reflex2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0007083Hyperactive patellar reflex2AP4S1 CL E G H11154280763ORPHA1148575607243
HP:0001347HP:0011448Ankle clonus2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0011728Elbow clonus2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0011449Knee clonus2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0033205Biceps hyperreflexia2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0033203Brachioradialis hyperreflexia2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0033204Triceps hyperreflexia2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0033206Hyperactive Achilles reflex2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0007083Hyperactive patellar reflex2AP4S1 CL E G H11154614067Spastic paraplegia 52, autosomal recessive614067C3279743OMIM1148575607243
HP:0001347HP:0011448Ankle clonus2AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0011728Elbow clonus2AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0011449Knee clonus2AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0033205Biceps hyperreflexia2AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0033203Brachioradialis hyperreflexia2AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0033204Triceps hyperreflexia2AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0033206Hyperactive Achilles reflex2AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0007083Hyperactive patellar reflex2AP5Z1 CL E G H9907306511ORPHA1102122197613653
HP:0001347HP:0011448Ankle clonus2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0011728Elbow clonus2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0011449Knee clonus2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0033205Biceps hyperreflexia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0033203Brachioradialis hyperreflexia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0033204Triceps hyperreflexia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0033206Hyperactive Achilles reflex2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0007083Hyperactive patellar reflex2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001347HP:0011448Ankle clonus2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0011728Elbow clonus2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0011449Knee clonus2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0033205Biceps hyperreflexia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0033203Brachioradialis hyperreflexia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0033204Triceps hyperreflexia2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0033206Hyperactive Achilles reflex2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0007083Hyperactive patellar reflex2ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM181018060300382
HP:0001347HP:0011448Ankle clonus2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0011728Elbow clonus2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0011449Knee clonus2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0033205Biceps hyperreflexia2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0033203Brachioradialis hyperreflexia2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0033204Triceps hyperreflexia2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0033206Hyperactive Achilles reflex2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0007083Hyperactive patellar reflex2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM181018060300382
HP:0001347HP:0011448Ankle clonus2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0011728Elbow clonus2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0011449Knee clonus2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0033205Biceps hyperreflexia2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0033203Brachioradialis hyperreflexia2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0033204Triceps hyperreflexia2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0033206Hyperactive Achilles reflex2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0007083Hyperactive patellar reflex2ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1586753108370
HP:0001347HP:0011448Ankle clonus2ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0011728Elbow clonus2ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0011449Knee clonus2ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0033205Biceps hyperreflexia2ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0033203Brachioradialis hyperreflexia2ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0033204Triceps hyperreflexia2ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0033206Hyperactive Achilles reflex2ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0007083Hyperactive patellar reflex2ASPM CL E G H2592662512ORPHA1159719048605481
HP:0001347HP:0011448Ankle clonus2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0011728Elbow clonus2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0011449Knee clonus2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0033205Biceps hyperreflexia2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0033204Triceps hyperreflexia2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0033206Hyperactive Achilles reflex2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0007083Hyperactive patellar reflex2ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM118325903614452
HP:0001347HP:0011448Ankle clonus2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0011728Elbow clonus2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0011449Knee clonus2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0033205Biceps hyperreflexia2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0033204Triceps hyperreflexia2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0033206Hyperactive Achilles reflex2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0007083Hyperactive patellar reflex2ATAD1 CL E G H848963197Lateral body wall defectORPHA118325903614452
HP:0001347HP:0011448Ankle clonus2ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0011728Elbow clonus2ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0011449Knee clonus2ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0033205Biceps hyperreflexia2ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0033204Triceps hyperreflexia2ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0033206Hyperactive Achilles reflex2ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0007083Hyperactive patellar reflex2ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM151711231606439
HP:0001347HP:0011448Ankle clonus2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0011728Elbow clonus2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0011449Knee clonus2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0033205Biceps hyperreflexia2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0033204Triceps hyperreflexia2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0033206Hyperactive Achilles reflex2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0007083Hyperactive patellar reflex2ATP13A2 CL E G H23400513436ORPHA197430213610513
HP:0001347HP:0011448Ankle clonus2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0011728Elbow clonus2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0011449Knee clonus2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0033205Biceps hyperreflexia2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0033204Triceps hyperreflexia2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0033206Hyperactive Achilles reflex2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0007083Hyperactive patellar reflex2ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM197430213610513
HP:0001347HP:0011448Ankle clonus2ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0011728Elbow clonus2ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0011449Knee clonus2ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0033205Biceps hyperreflexia2ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0033204Triceps hyperreflexia2ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0033206Hyperactive Achilles reflex2ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0007083Hyperactive patellar reflex2ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM197430213610513
HP:0001347HP:0011448Ankle clonus2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0011728Elbow clonus2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0011449Knee clonus2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0033205Biceps hyperreflexia2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0033204Triceps hyperreflexia2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0033206Hyperactive Achilles reflex2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0007083Hyperactive patellar reflex2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1229851607027
HP:0001347HP:0011448Ankle clonus2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0011728Elbow clonus2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0011449Knee clonus2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0033205Biceps hyperreflexia2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0033204Triceps hyperreflexia2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0033206Hyperactive Achilles reflex2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0007083Hyperactive patellar reflex2ATP8A2 CL E G H517611766ORPHA144413533605870
HP:0001347HP:0011448Ankle clonus2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0011728Elbow clonus2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0011449Knee clonus2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0033205Biceps hyperreflexia2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0033204Triceps hyperreflexia2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0033206Hyperactive Achilles reflex2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0007083Hyperactive patellar reflex2ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0001347HP:0011448Ankle clonus2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0011728Elbow clonus2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0011449Knee clonus2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0033205Biceps hyperreflexia2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0033204Triceps hyperreflexia2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0033206Hyperactive Achilles reflex2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0007083Hyperactive patellar reflex2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM112010548601556
HP:0001347HP:0011448Ankle clonus2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0011728Elbow clonus2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0011449Knee clonus2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0033205Biceps hyperreflexia2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0033204Triceps hyperreflexia2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0033206Hyperactive Achilles reflex2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0007083Hyperactive patellar reflex2ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM111610549611150
HP:0001347HP:0011448Ankle clonus2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0011728Elbow clonus2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0011449Knee clonus2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0033205Biceps hyperreflexia2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0033204Triceps hyperreflexia2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0033206Hyperactive Achilles reflex2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0007083Hyperactive patellar reflex2ATXN3 CL E G H4287276238ORPHA1657106607047
HP:0001347HP:0011448Ankle clonus2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0011728Elbow clonus2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0011449Knee clonus2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0033205Biceps hyperreflexia2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0033204Triceps hyperreflexia2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0033206Hyperactive Achilles reflex2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0007083Hyperactive patellar reflex2ATXN3 CL E G H4287276241ORPHA1657106607047
HP:0001347HP:0011448Ankle clonus2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0011728Elbow clonus2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0011449Knee clonus2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0033205Biceps hyperreflexia2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0033204Triceps hyperreflexia2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0033206Hyperactive Achilles reflex2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0007083Hyperactive patellar reflex2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0001347HP:0011448Ankle clonus2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0011728Elbow clonus2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0011449Knee clonus2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0033205Biceps hyperreflexia2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0033204Triceps hyperreflexia2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0033206Hyperactive Achilles reflex2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0007083Hyperactive patellar reflex2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001347HP:0011448Ankle clonus2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0011728Elbow clonus2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0011449Knee clonus2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0033205Biceps hyperreflexia2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0033204Triceps hyperreflexia2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0033206Hyperactive Achilles reflex2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0007083Hyperactive patellar reflex2ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001347HP:0011448Ankle clonus2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0011728Elbow clonus2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0011449Knee clonus2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0033205Biceps hyperreflexia2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0033204Triceps hyperreflexia2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0033206Hyperactive Achilles reflex2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0007083Hyperactive patellar reflex2ATXN8OS CL E G H631598760ORPHA18710561603680
HP:0001347HP:0011448Ankle clonus2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0011728Elbow clonus2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0011449Knee clonus2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0033205Biceps hyperreflexia2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0033203Brachioradialis hyperreflexia2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0033204Triceps hyperreflexia2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0033206Hyperactive Achilles reflex2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0007083Hyperactive patellar reflex2AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1249890600529
HP:0001347HP:0011448Ankle clonus2B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0011728Elbow clonus2B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0011449Knee clonus2B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0033205Biceps hyperreflexia2B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0033203Brachioradialis hyperreflexia2B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0033204Triceps hyperreflexia2B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0033206Hyperactive Achilles reflex2B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0007083Hyperactive patellar reflex2B4GALNT1 CL E G H2583101006ORPHA12954117601873
HP:0001347HP:0011448Ankle clonus2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0011728Elbow clonus2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0011449Knee clonus2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0033205Biceps hyperreflexia2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0033203Brachioradialis hyperreflexia2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0033204Triceps hyperreflexia2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0033206Hyperactive Achilles reflex2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0007083Hyperactive patellar reflex2B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM12954117601873
HP:0001347HP:0011448Ankle clonus2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0011728Elbow clonus2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0011449Knee clonus2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0033205Biceps hyperreflexia2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0033203Brachioradialis hyperreflexia2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0033204Triceps hyperreflexia2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0033206Hyperactive Achilles reflex2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0007083Hyperactive patellar reflex2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1249961605681
HP:0001347HP:0011448Ankle clonus2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0011728Elbow clonus2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0011449Knee clonus2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0033205Biceps hyperreflexia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0033203Brachioradialis hyperreflexia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0033204Triceps hyperreflexia2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0033206Hyperactive Achilles reflex2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0007083Hyperactive patellar reflex2BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM14131020603647
HP:0001347HP:0011448Ankle clonus2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0011728Elbow clonus2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0011449Knee clonus2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0033205Biceps hyperreflexia2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0033203Brachioradialis hyperreflexia2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0033204Triceps hyperreflexia2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0033206Hyperactive Achilles reflex2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0007083Hyperactive patellar reflex2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001347HP:0011448Ankle clonus2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0011728Elbow clonus2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0011449Knee clonus2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0033205Biceps hyperreflexia2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0033203Brachioradialis hyperreflexia2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0033204Triceps hyperreflexia2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0033206Hyperactive Achilles reflex2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0007083Hyperactive patellar reflex2BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM1114721701614506
HP:0001347HP:0011448Ankle clonus2BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0011728Elbow clonus2BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0011449Knee clonus2BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0033205Biceps hyperreflexia2BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0033203Brachioradialis hyperreflexia2BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0033204Triceps hyperreflexia2BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0033206Hyperactive Achilles reflex2BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0007083Hyperactive patellar reflex2BSCL2 CL E G H26580100998ORPHA151015832606158
HP:0001347HP:0011448Ankle clonus2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0011728Elbow clonus2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0011449Knee clonus2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0033205Biceps hyperreflexia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0033203Brachioradialis hyperreflexia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0033204Triceps hyperreflexia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0033206Hyperactive Achilles reflex2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0007083Hyperactive patellar reflex2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001347HP:0011448Ankle clonus2BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0011728Elbow clonus2BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0011449Knee clonus2BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0033205Biceps hyperreflexia2BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0033203Brachioradialis hyperreflexia2BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0033204Triceps hyperreflexia2BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0033206Hyperactive Achilles reflex2BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0007083Hyperactive patellar reflex2BSCL2 CL E G H26580270685Spastic paraplegia 17270685CN074197OMIM151015832606158
HP:0001347HP:0011448Ankle clonus2C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0011728Elbow clonus2C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0011449Knee clonus2C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0033205Biceps hyperreflexia2C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0033203Brachioradialis hyperreflexia2C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0033204Triceps hyperreflexia2C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0033206Hyperactive Achilles reflex2C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0007083Hyperactive patellar reflex2C12orf65 CL E G H91574320375ORPHA126784613541
HP:0001347HP:0011448Ankle clonus2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0011728Elbow clonus2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0011449Knee clonus2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0033205Biceps hyperreflexia2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0033203Brachioradialis hyperreflexia2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0033204Triceps hyperreflexia2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0033206Hyperactive Achilles reflex2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0007083Hyperactive patellar reflex2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0001347HP:0011448Ankle clonus2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0011728Elbow clonus2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0011449Knee clonus2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0033205Biceps hyperreflexia2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0033203Brachioradialis hyperreflexia2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0033204Triceps hyperreflexia2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0033206Hyperactive Achilles reflex2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0007083Hyperactive patellar reflex2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM130725443614297
HP:0001347HP:0011448Ankle clonus2CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0011728Elbow clonus2CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0011449Knee clonus2CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0033205Biceps hyperreflexia2CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0033203Brachioradialis hyperreflexia2CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0033204Triceps hyperreflexia2CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0033206Hyperactive Achilles reflex2CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0007083Hyperactive patellar reflex2CA8 CL E G H7671766ORPHA1941382114815
HP:0001347HP:0011448Ankle clonus2CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0011728Elbow clonus2CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0011449Knee clonus2CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0033205Biceps hyperreflexia2CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0033203Brachioradialis hyperreflexia2CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0033204Triceps hyperreflexia2CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0033206Hyperactive Achilles reflex2CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0007083Hyperactive patellar reflex2CACNA1A CL E G H77398758ORPHA132481388601011
HP:0001347HP:0011448Ankle clonus2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0011728Elbow clonus2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0011449Knee clonus2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0033205Biceps hyperreflexia2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0033203Brachioradialis hyperreflexia2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0033204Triceps hyperreflexia2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0033206Hyperactive Achilles reflex2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0007083Hyperactive patellar reflex2CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM132481388601011
HP:0001347HP:0011448Ankle clonus2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0011728Elbow clonus2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0011449Knee clonus2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0033205Biceps hyperreflexia2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0033203Brachioradialis hyperreflexia2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0033204Triceps hyperreflexia2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0033206Hyperactive Achilles reflex2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0007083Hyperactive patellar reflex2CACNA1E CL E G H777618285618285618285OMIM115831392601013
HP:0001347HP:0011448Ankle clonus2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0011728Elbow clonus2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0011449Knee clonus2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0033205Biceps hyperreflexia2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0033203Brachioradialis hyperreflexia2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0033204Triceps hyperreflexia2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0033206Hyperactive Achilles reflex2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0007083Hyperactive patellar reflex2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM18221394604065
HP:0001347HP:0011448Ankle clonus2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0011728Elbow clonus2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0011449Knee clonus2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0033205Biceps hyperreflexia2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0033203Brachioradialis hyperreflexia2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0033204Triceps hyperreflexia2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0033206Hyperactive Achilles reflex2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0007083Hyperactive patellar reflex2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM18441497300172
HP:0001347HP:0011448Ankle clonus2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0011728Elbow clonus2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0011449Knee clonus2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0033205Biceps hyperreflexia2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0033203Brachioradialis hyperreflexia2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0033204Triceps hyperreflexia2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0033206Hyperactive Achilles reflex2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0007083Hyperactive patellar reflex2CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1152529253612013
HP:0001347HP:0011448Ankle clonus2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0011728Elbow clonus2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0011449Knee clonus2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0033205Biceps hyperreflexia2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0033203Brachioradialis hyperreflexia2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0033204Triceps hyperreflexia2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0033206Hyperactive Achilles reflex2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0007083Hyperactive patellar reflex2CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1152529253612013
HP:0001347HP:0011448Ankle clonus2CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0011728Elbow clonus2CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0011449Knee clonus2CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0033205Biceps hyperreflexia2CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0033203Brachioradialis hyperreflexia2CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0033204Triceps hyperreflexia2CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0033206Hyperactive Achilles reflex2CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0007083Hyperactive patellar reflex2CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM183825523609736
HP:0001347HP:0011448Ankle clonus2CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0011728Elbow clonus2CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0011449Knee clonus2CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0033205Biceps hyperreflexia2CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0033203Brachioradialis hyperreflexia2CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0033204Triceps hyperreflexia2CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0033206Hyperactive Achilles reflex2CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0007083Hyperactive patellar reflex2CCDC88C CL E G H440193423275ORPHA158619967611204
HP:0001347HP:0011448Ankle clonus2CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0011728Elbow clonus2CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0011449Knee clonus2CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0033205Biceps hyperreflexia2CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0033203Brachioradialis hyperreflexia2CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0033204Triceps hyperreflexia2CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0033206Hyperactive Achilles reflex2CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0007083Hyperactive patellar reflex2CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM158619967611204
HP:0001347HP:0011448Ankle clonus2CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0011728Elbow clonus2CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0011449Knee clonus2CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0033205Biceps hyperreflexia2CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0033203Brachioradialis hyperreflexia2CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0033204Triceps hyperreflexia2CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0033206Hyperactive Achilles reflex2CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0007083Hyperactive patellar reflex2CDK5RAP2 CL E G H557552512ORPHA171218672608201
HP:0001347HP:0011448Ankle clonus2CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0011728Elbow clonus2CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0011449Knee clonus2CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0033205Biceps hyperreflexia2CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0033203Brachioradialis hyperreflexia2CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0033204Triceps hyperreflexia2CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0033206Hyperactive Achilles reflex2CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0007083Hyperactive patellar reflex2CDK6 CL E G H10212512ORPHA1541777603368
HP:0001347HP:0011448Ankle clonus2CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0011728Elbow clonus2CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0011449Knee clonus2CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0033205Biceps hyperreflexia2CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0033203Brachioradialis hyperreflexia2CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0033204Triceps hyperreflexia2CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0033206Hyperactive Achilles reflex2CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0007083Hyperactive patellar reflex2CENPJ CL E G H558352512ORPHA157417272609279
HP:0001347HP:0011448Ankle clonus2CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0011728Elbow clonus2CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0011449Knee clonus2CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0033205Biceps hyperreflexia2CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0033203Brachioradialis hyperreflexia2CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0033204Triceps hyperreflexia2CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0033206Hyperactive Achilles reflex2CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0007083Hyperactive patellar reflex2CEP135 CL E G H96622512ORPHA139029086611423
HP:0001347HP:0011448Ankle clonus2CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0011728Elbow clonus2CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0011449Knee clonus2CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0033205Biceps hyperreflexia2CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0033203Brachioradialis hyperreflexia2CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0033204Triceps hyperreflexia2CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0033206Hyperactive Achilles reflex2CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0007083Hyperactive patellar reflex2CEP152 CL E G H229952512ORPHA159529298613529
HP:0001347HP:0011448Ankle clonus2CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0011728Elbow clonus2CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0011449Knee clonus2CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0033205Biceps hyperreflexia2CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0033203Brachioradialis hyperreflexia2CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0033204Triceps hyperreflexia2CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0033206Hyperactive Achilles reflex2CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0007083Hyperactive patellar reflex2CEP63 CL E G H802542512ORPHA133325815614724
HP:0001347HP:0011448Ankle clonus2CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0011728Elbow clonus2CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0011449Knee clonus2CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0033205Biceps hyperreflexia2CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0033203Brachioradialis hyperreflexia2CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0033204Triceps hyperreflexia2CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0033206Hyperactive Achilles reflex2CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0007083Hyperactive patellar reflex2CHCHD2 CL E G H51142616710Parkinson disease 22, autosomal dominant616710C4225238OMIM19521645616244
HP:0001347HP:0011448Ankle clonus2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0011728Elbow clonus2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0011449Knee clonus2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0033205Biceps hyperreflexia2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0033203Brachioradialis hyperreflexia2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0033204Triceps hyperreflexia2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0033206Hyperactive Achilles reflex2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0007083Hyperactive patellar reflex2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM12488740164010
HP:0001347HP:0011448Ankle clonus2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0011728Elbow clonus2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0011449Knee clonus2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0033205Biceps hyperreflexia2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0033203Brachioradialis hyperreflexia2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0033204Triceps hyperreflexia2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0033206Hyperactive Achilles reflex2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0007083Hyperactive patellar reflex2CHMP2B CL E G H25978600795Frontotemporal Dementia, Chromosome 3-Linked600795C1833296OMIM116024537609512
HP:0001347HP:0011448Ankle clonus2CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0011728Elbow clonus2CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0011449Knee clonus2CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0033205Biceps hyperreflexia2CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0033203Brachioradialis hyperreflexia2CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0033204Triceps hyperreflexia2CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0033206Hyperactive Achilles reflex2CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0007083Hyperactive patellar reflex2CIT CL E G H111132512ORPHA15141985605629
HP:0001347HP:0011448Ankle clonus2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0011728Elbow clonus2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0011449Knee clonus2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0033205Biceps hyperreflexia2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0033203Brachioradialis hyperreflexia2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0033204Triceps hyperreflexia2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0033206Hyperactive Achilles reflex2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0007083Hyperactive patellar reflex2CIT CL E G H11113617090Microcephaly 17, primary, autosomal recessive617090C4310723OMIM15141985605629
HP:0001347HP:0011448Ankle clonus2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0011728Elbow clonus2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0011449Knee clonus2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0033205Biceps hyperreflexia2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0033203Brachioradialis hyperreflexia2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0033204Triceps hyperreflexia2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0033206Hyperactive Achilles reflex2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0007083Hyperactive patellar reflex2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA12292586603432
HP:0001347HP:0011448Ankle clonus2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0011728Elbow clonus2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0011449Knee clonus2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0033205Biceps hyperreflexia2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0033203Brachioradialis hyperreflexia2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0033204Triceps hyperreflexia2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0033206Hyperactive Achilles reflex2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0007083Hyperactive patellar reflex2CLP1 CL E G H10978411493ORPHA19716999608757
HP:0001347HP:0011448Ankle clonus2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0011728Elbow clonus2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0011449Knee clonus2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0033205Biceps hyperreflexia2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0033203Brachioradialis hyperreflexia2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0033204Triceps hyperreflexia2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0033206Hyperactive Achilles reflex2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0007083Hyperactive patellar reflex2CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM19716999608757
HP:0001347HP:0011448Ankle clonus2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0011728Elbow clonus2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0011449Knee clonus2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0033205Biceps hyperreflexia2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0033203Brachioradialis hyperreflexia2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0033204Triceps hyperreflexia2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0033206Hyperactive Achilles reflex2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0007083Hyperactive patellar reflex2CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM14258011602346
HP:0001347HP:0011448Ankle clonus2COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0011728Elbow clonus2COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0011449Knee clonus2COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0033205Biceps hyperreflexia2COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0033203Brachioradialis hyperreflexia2COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0033204Triceps hyperreflexia2COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0033206Hyperactive Achilles reflex2COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0007083Hyperactive patellar reflex2COG4 CL E G H25839263501ORPHA133918620606976
HP:0001347HP:0011448Ankle clonus2COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0011728Elbow clonus2COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0011449Knee clonus2COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0033205Biceps hyperreflexia2COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0033203Brachioradialis hyperreflexia2COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0033204Triceps hyperreflexia2COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0033206Hyperactive Achilles reflex2COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0007083Hyperactive patellar reflex2COPB2 CL E G H92762512ORPHA1992232606990
HP:0001347HP:0011448Ankle clonus2COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0011728Elbow clonus2COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0011449Knee clonus2COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0033205Biceps hyperreflexia2COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0033203Brachioradialis hyperreflexia2COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0033204Triceps hyperreflexia2COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0033206Hyperactive Achilles reflex2COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0007083Hyperactive patellar reflex2COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM169916812606980
HP:0001347HP:0011448Ankle clonus2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0011728Elbow clonus2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0011449Knee clonus2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0033205Biceps hyperreflexia2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0033203Brachioradialis hyperreflexia2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0033204Triceps hyperreflexia2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0033206Hyperactive Achilles reflex2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0007083Hyperactive patellar reflex2COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM127625302612837
HP:0001347HP:0011448Ankle clonus2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0011728Elbow clonus2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0011449Knee clonus2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0033205Biceps hyperreflexia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0033203Brachioradialis hyperreflexia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0033204Triceps hyperreflexia2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0033206Hyperactive Achilles reflex2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0007083Hyperactive patellar reflex2COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM13562260602125
HP:0001347HP:0011448Ankle clonus2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0011728Elbow clonus2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0011449Knee clonus2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0033205Biceps hyperreflexia2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0033203Brachioradialis hyperreflexia2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0033204Triceps hyperreflexia2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0033206Hyperactive Achilles reflex2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0007083Hyperactive patellar reflex2COX15 CL E G H1355255241ORPHA13572263603646
HP:0001347HP:0011448Ankle clonus2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0011728Elbow clonus2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0011449Knee clonus2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0033205Biceps hyperreflexia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0033203Brachioradialis hyperreflexia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0033204Triceps hyperreflexia2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0033206Hyperactive Achilles reflex2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0007083Hyperactive patellar reflex2COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM13572263603646
HP:0001347HP:0011448Ankle clonus2CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0011728Elbow clonus2CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0011449Knee clonus2CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0033205Biceps hyperreflexia2CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0033203Brachioradialis hyperreflexia2CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0033204Triceps hyperreflexia2CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0033206Hyperactive Achilles reflex2CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0007083Hyperactive patellar reflex2CPT1C CL E G H126129444099ORPHA123918540608846
HP:0001347HP:0011448Ankle clonus2CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0011728Elbow clonus2CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0011449Knee clonus2CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0033205Biceps hyperreflexia2CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0033203Brachioradialis hyperreflexia2CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0033204Triceps hyperreflexia2CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0033206Hyperactive Achilles reflex2CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0007083Hyperactive patellar reflex2CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM123918540608846
HP:0001347HP:0011448Ankle clonus2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0011728Elbow clonus2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0011449Knee clonus2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0033205Biceps hyperreflexia2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0033203Brachioradialis hyperreflexia2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0033204Triceps hyperreflexia2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0033206Hyperactive Achilles reflex2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0007083Hyperactive patellar reflex2CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12302342600184
HP:0001347HP:0011448Ankle clonus2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0011728Elbow clonus2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0011449Knee clonus2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0033205Biceps hyperreflexia2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0033203Brachioradialis hyperreflexia2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0033204Triceps hyperreflexia2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0033206Hyperactive Achilles reflex2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0007083Hyperactive patellar reflex2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM118662348600140
HP:0001347HP:0011448Ankle clonus2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0011728Elbow clonus2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0011449Knee clonus2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0033205Biceps hyperreflexia2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0033203Brachioradialis hyperreflexia2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0033204Triceps hyperreflexia2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0033206Hyperactive Achilles reflex2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0007083Hyperactive patellar reflex2CSF1R CL E G H1436221820Hereditary diffuse leukoencephalopathy with spheroids221820C3711381OMIM16962433164770
HP:0001347HP:0011448Ankle clonus2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0011728Elbow clonus2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0011449Knee clonus2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0033205Biceps hyperreflexia2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0033203Brachioradialis hyperreflexia2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0033204Triceps hyperreflexia2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0033206Hyperactive Achilles reflex2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0007083Hyperactive patellar reflex2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM11442510114025
HP:0001347HP:0011448Ankle clonus2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0011728Elbow clonus2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0011449Knee clonus2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0033205Biceps hyperreflexia2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0033203Brachioradialis hyperreflexia2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0033204Triceps hyperreflexia2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0033206Hyperactive Achilles reflex2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0007083Hyperactive patellar reflex2CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM12182531603539
HP:0001347HP:0011448Ankle clonus2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0011728Elbow clonus2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0011449Knee clonus2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0033205Biceps hyperreflexia2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0033203Brachioradialis hyperreflexia2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0033204Triceps hyperreflexia2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0033206Hyperactive Achilles reflex2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0007083Hyperactive patellar reflex2CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM166813760606323
HP:0001347HP:0011448Ankle clonus2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0011728Elbow clonus2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0011449Knee clonus2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0033205Biceps hyperreflexia2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0033203Brachioradialis hyperreflexia2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0033204Triceps hyperreflexia2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0033206Hyperactive Achilles reflex2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0007083Hyperactive patellar reflex2CYP27A1 CL E G H1593909ORPHA19402605606530
HP:0001347HP:0011448Ankle clonus2CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0011728Elbow clonus2CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0011449Knee clonus2CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0033205Biceps hyperreflexia2CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0033203Brachioradialis hyperreflexia2CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0033204Triceps hyperreflexia2CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0033206Hyperactive Achilles reflex2CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0007083Hyperactive patellar reflex2CYP7B1 CL E G H9420270800Spastic paraplegia 5A270800C1849115OMIM14152652603711
HP:0001347HP:0011448Ankle clonus2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0011728Elbow clonus2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0011449Knee clonus2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0033205Biceps hyperreflexia2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0033203Brachioradialis hyperreflexia2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0033204Triceps hyperreflexia2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0033206Hyperactive Achilles reflex2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0007083Hyperactive patellar reflex2DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM12678603084
HP:0001347HP:0011448Ankle clonus2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0011728Elbow clonus2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0011449Knee clonus2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0033205Biceps hyperreflexia2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0033203Brachioradialis hyperreflexia2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0033204Triceps hyperreflexia2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0033206Hyperactive Achilles reflex2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0007083Hyperactive patellar reflex2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM139725538610956
HP:0001347HP:0011448Ankle clonus2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0011728Elbow clonus2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0011449Knee clonus2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0033205Biceps hyperreflexia2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0033203Brachioradialis hyperreflexia2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0033204Triceps hyperreflexia2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0033206Hyperactive Achilles reflex2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0007083Hyperactive patellar reflex2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM15032719107930
HP:0001347HP:0011448Ankle clonus2DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0011728Elbow clonus2DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0011449Knee clonus2DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0033205Biceps hyperreflexia2DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0033203Brachioradialis hyperreflexia2DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0033204Triceps hyperreflexia2DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0033206Hyperactive Achilles reflex2DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0007083Hyperactive patellar reflex2DDHD1 CL E G H80821101008ORPHA143919714614603
HP:0001347HP:0011448Ankle clonus2DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0011728Elbow clonus2DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0011449Knee clonus2DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0033205Biceps hyperreflexia2DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0033203Brachioradialis hyperreflexia2DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0033204Triceps hyperreflexia2DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0033206Hyperactive Achilles reflex2DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0007083Hyperactive patellar reflex2DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM143919714614603
HP:0001347HP:0011448Ankle clonus2DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0011728Elbow clonus2DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0011449Knee clonus2DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0033205Biceps hyperreflexia2DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0033203Brachioradialis hyperreflexia2DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0033204Triceps hyperreflexia2DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0033206Hyperactive Achilles reflex2DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0007083Hyperactive patellar reflex2DDHD2 CL E G H23259615033Spastic paraplegia 54, autosomal recessive615033C3539495OMIM134129106615003
HP:0001347HP:0011448Ankle clonus2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0011728Elbow clonus2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0011449Knee clonus2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0033205Biceps hyperreflexia2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0033203Brachioradialis hyperreflexia2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0033204Triceps hyperreflexia2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0033206Hyperactive Achilles reflex2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0007083Hyperactive patellar reflex2DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM146319344617278
HP:0001347HP:0011448Ankle clonus2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0011728Elbow clonus2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0011449Knee clonus2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0033205Biceps hyperreflexia2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0033203Brachioradialis hyperreflexia2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0033204Triceps hyperreflexia2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0033206Hyperactive Achilles reflex2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0007083Hyperactive patellar reflex2DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM12392858601465
HP:0001347HP:0011448Ankle clonus2DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0011728Elbow clonus2DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0011449Knee clonus2DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0033205Biceps hyperreflexia2DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0033203Brachioradialis hyperreflexia2DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0033204Triceps hyperreflexia2DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0033206Hyperactive Achilles reflex2DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0007083Hyperactive patellar reflex2DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM13032896608770
HP:0001347HP:0011448Ankle clonus2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0011728Elbow clonus2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0011449Knee clonus2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0033205Biceps hyperreflexia2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0033203Brachioradialis hyperreflexia2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0033204Triceps hyperreflexia2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0033206Hyperactive Achilles reflex2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0007083Hyperactive patellar reflex2DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM111962976126375
HP:0001347HP:0011448Ankle clonus2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0011728Elbow clonus2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0011449Knee clonus2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0033205Biceps hyperreflexia2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0033203Brachioradialis hyperreflexia2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0033204Triceps hyperreflexia2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0033206Hyperactive Achilles reflex2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0007083Hyperactive patellar reflex2DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM13122995191350
HP:0001347HP:0011448Ankle clonus2DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0011728Elbow clonus2DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0011449Knee clonus2DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0033205Biceps hyperreflexia2DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0033203Brachioradialis hyperreflexia2DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0033204Triceps hyperreflexia2DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0033206Hyperactive Achilles reflex2DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0007083Hyperactive patellar reflex2DSTYK CL E G H25778101003ORPHA117129043612666
HP:0001347HP:0011448Ankle clonus2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0011728Elbow clonus2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0011449Knee clonus2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0033205Biceps hyperreflexia2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0033203Brachioradialis hyperreflexia2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0033204Triceps hyperreflexia2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0033206Hyperactive Achilles reflex2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0007083Hyperactive patellar reflex2DSTYK CL E G H25778270750Spastic paraplegia 23270750C0796019OMIM117129043612666
HP:0001347HP:0011448Ankle clonus2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0011728Elbow clonus2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0011449Knee clonus2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0033205Biceps hyperreflexia2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0033203Brachioradialis hyperreflexia2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0033204Triceps hyperreflexia2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0033206Hyperactive Achilles reflex2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0007083Hyperactive patellar reflex2ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001347HP:0011448Ankle clonus2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0011728Elbow clonus2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0011449Knee clonus2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0033205Biceps hyperreflexia2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0033203Brachioradialis hyperreflexia2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0033204Triceps hyperreflexia2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0033206Hyperactive Achilles reflex2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0007083Hyperactive patellar reflex2EIF2S3 CL E G H196885282ORPHA12083267300161
HP:0001347HP:0011448Ankle clonus2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0011728Elbow clonus2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0011449Knee clonus2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0033205Biceps hyperreflexia2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0033203Brachioradialis hyperreflexia2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0033204Triceps hyperreflexia2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0033206Hyperactive Achilles reflex2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0007083Hyperactive patellar reflex2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA19663327130160
HP:0001347HP:0011448Ankle clonus2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0011728Elbow clonus2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0011449Knee clonus2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0033205Biceps hyperreflexia2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0033203Brachioradialis hyperreflexia2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0033204Triceps hyperreflexia2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0033206Hyperactive Achilles reflex2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0007083Hyperactive patellar reflex2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM19663327130160
HP:0001347HP:0011448Ankle clonus2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0011728Elbow clonus2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0011449Knee clonus2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0033205Biceps hyperreflexia2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0033203Brachioradialis hyperreflexia2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0033204Triceps hyperreflexia2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0033206Hyperactive Achilles reflex2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0007083Hyperactive patellar reflex2ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM129714415605512
HP:0001347HP:0011448Ankle clonus2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0011728Elbow clonus2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0011449Knee clonus2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0033205Biceps hyperreflexia2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0033203Brachioradialis hyperreflexia2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0033204Triceps hyperreflexia2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0033206Hyperactive Achilles reflex2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0007083Hyperactive patellar reflex2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM112663373602700
HP:0001347HP:0011448Ankle clonus2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0011728Elbow clonus2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0011449Knee clonus2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0033205Biceps hyperreflexia2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0033203Brachioradialis hyperreflexia2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0033204Triceps hyperreflexia2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0033206Hyperactive Achilles reflex2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0007083Hyperactive patellar reflex2ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11613433126380
HP:0001347HP:0011448Ankle clonus2ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0011728Elbow clonus2ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0011449Knee clonus2ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0033205Biceps hyperreflexia2ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0033203Brachioradialis hyperreflexia2ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0033204Triceps hyperreflexia2ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0033206Hyperactive Achilles reflex2ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0007083Hyperactive patellar reflex2ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0001347HP:0011448Ankle clonus2ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0011728Elbow clonus2ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0011449Knee clonus2ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0033205Biceps hyperreflexia2ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0033203Brachioradialis hyperreflexia2ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0033204Triceps hyperreflexia2ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0033206Hyperactive Achilles reflex2ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0007083Hyperactive patellar reflex2ERLIN2 CL E G H11160247604ORPHA11911356611605
HP:0001347HP:0011448Ankle clonus2ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0011728Elbow clonus2ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0011449Knee clonus2ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0033205Biceps hyperreflexia2ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0033203Brachioradialis hyperreflexia2ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0033204Triceps hyperreflexia2ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0033206Hyperactive Achilles reflex2ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0007083Hyperactive patellar reflex2ERLIN2 CL E G H11160611225Spastic paraplegia 18611225C2749936OMIM11911356611605
HP:0001347HP:0011448Ankle clonus2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0011728Elbow clonus2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0011449Knee clonus2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0033205Biceps hyperreflexia2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0033203Brachioradialis hyperreflexia2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0033204Triceps hyperreflexia2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0033206Hyperactive Achilles reflex2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0007083Hyperactive patellar reflex2EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM122717944606489
HP:0001347HP:0011448Ankle clonus2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0011728Elbow clonus2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0011449Knee clonus2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0033205Biceps hyperreflexia2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0033203Brachioradialis hyperreflexia2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0033204Triceps hyperreflexia2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0033206Hyperactive Achilles reflex2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0007083Hyperactive patellar reflex2EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12609137606180
HP:0001347HP:0011448Ankle clonus2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0011728Elbow clonus2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0011449Knee clonus2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0033205Biceps hyperreflexia2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0033203Brachioradialis hyperreflexia2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0033204Triceps hyperreflexia2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0033206Hyperactive Achilles reflex2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0007083Hyperactive patellar reflex2EYA1 CL E G H21382792Hyperbilirubinemia type 1ORPHA15133519601653
HP:0001347HP:0011448Ankle clonus2FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0011728Elbow clonus2FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0011449Knee clonus2FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0033205Biceps hyperreflexia2FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0033203Brachioradialis hyperreflexia2FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0033204Triceps hyperreflexia2FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0033206Hyperactive Achilles reflex2FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0007083Hyperactive patellar reflex2FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM124587610531
HP:0001347HP:0011448Ankle clonus2FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0011728Elbow clonus2FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0011449Knee clonus2FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0033205Biceps hyperreflexia2FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0033203Brachioradialis hyperreflexia2FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0033204Triceps hyperreflexia2FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0033206Hyperactive Achilles reflex2FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0007083Hyperactive patellar reflex2FARS2 CL E G H10667617046Spastic paraplegia 77, autosomal recessive617046C4310750OMIM156421062611592
HP:0001347HP:0011448Ankle clonus2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0011728Elbow clonus2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0011449Knee clonus2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0033205Biceps hyperreflexia2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0033203Brachioradialis hyperreflexia2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0033204Triceps hyperreflexia2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0033206Hyperactive Achilles reflex2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0007083Hyperactive patellar reflex2FBXO7 CL E G H25793171695ORPHA124313586605648
HP:0001347HP:0011448Ankle clonus2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0011728Elbow clonus2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0011449Knee clonus2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0033205Biceps hyperreflexia2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0033203Brachioradialis hyperreflexia2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0033204Triceps hyperreflexia2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0033206Hyperactive Achilles reflex2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0007083Hyperactive patellar reflex2FBXO7 CL E G H25793260300Parkinson disease 15260300C1850100OMIM124313586605648
HP:0001347HP:0011448Ankle clonus2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0011728Elbow clonus2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0011449Knee clonus2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0033205Biceps hyperreflexia2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0033203Brachioradialis hyperreflexia2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0033204Triceps hyperreflexia2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0033206Hyperactive Achilles reflex2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0007083Hyperactive patellar reflex2FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001347HP:0011448Ankle clonus2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0011728Elbow clonus2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0011449Knee clonus2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0033205Biceps hyperreflexia2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0033203Brachioradialis hyperreflexia2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0033204Triceps hyperreflexia2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0033206Hyperactive Achilles reflex2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0007083Hyperactive patellar reflex2FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM145029007300838
HP:0001347HP:0011448Ankle clonus2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0011728Elbow clonus2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0011449Knee clonus2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0033205Biceps hyperreflexia2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0033203Brachioradialis hyperreflexia2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0033204Triceps hyperreflexia2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0033206Hyperactive Achilles reflex2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0007083Hyperactive patellar reflex2FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11853999134790
HP:0001347HP:0011448Ankle clonus2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0011728Elbow clonus2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0011449Knee clonus2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0033205Biceps hyperreflexia2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0033203Brachioradialis hyperreflexia2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0033204Triceps hyperreflexia2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0033206Hyperactive Achilles reflex2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0007083Hyperactive patellar reflex2FUS CL E G H2521300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA14744010137070
HP:0001347HP:0011448Ankle clonus2GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0011728Elbow clonus2GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0011449Knee clonus2GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0033205Biceps hyperreflexia2GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0033203Brachioradialis hyperreflexia2GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0033204Triceps hyperreflexia2GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0033206Hyperactive Achilles reflex2GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0007083Hyperactive patellar reflex2GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM12424092605363
HP:0001347HP:0011448Ankle clonus2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0011728Elbow clonus2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0011449Knee clonus2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0033205Biceps hyperreflexia2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0033203Brachioradialis hyperreflexia2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0033204Triceps hyperreflexia2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0033206Hyperactive Achilles reflex2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0007083Hyperactive patellar reflex2GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM15884136601240
HP:0001347HP:0011448Ankle clonus2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0011728Elbow clonus2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0011449Knee clonus2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0033205Biceps hyperreflexia2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0033203Brachioradialis hyperreflexia2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0033204Triceps hyperreflexia2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0033206Hyperactive Achilles reflex2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0007083Hyperactive patellar reflex2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0001347HP:0011448Ankle clonus2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0011728Elbow clonus2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0011449Knee clonus2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0033205Biceps hyperreflexia2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0033203Brachioradialis hyperreflexia2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0033204Triceps hyperreflexia2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0033206Hyperactive Achilles reflex2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0007083Hyperactive patellar reflex2GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14177606463
HP:0001347HP:0011448Ankle clonus2GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0011728Elbow clonus2GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0011449Knee clonus2GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0033205Biceps hyperreflexia2GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0033203Brachioradialis hyperreflexia2GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0033204Triceps hyperreflexia2GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0033206Hyperactive Achilles reflex2GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0007083Hyperactive patellar reflex2GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM14284193600225
HP:0001347HP:0011448Ankle clonus2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0011728Elbow clonus2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0011449Knee clonus2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0033205Biceps hyperreflexia2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0033203Brachioradialis hyperreflexia2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0033204Triceps hyperreflexia2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0033206Hyperactive Achilles reflex2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0007083Hyperactive patellar reflex2GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11764208238330
HP:0001347HP:0011448Ankle clonus2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0011728Elbow clonus2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0011449Knee clonus2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0033205Biceps hyperreflexia2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0033203Brachioradialis hyperreflexia2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0033204Triceps hyperreflexia2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0033206Hyperactive Achilles reflex2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0007083Hyperactive patellar reflex2GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM165013780606639
HP:0001347HP:0011448Ankle clonus2GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0011728Elbow clonus2GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0011449Knee clonus2GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0033205Biceps hyperreflexia2GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0033203Brachioradialis hyperreflexia2GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0033204Triceps hyperreflexia2GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0033206Hyperactive Achilles reflex2GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0007083Hyperactive patellar reflex2GJA1 CL E G H26972710Hm syndromeORPHA12724274121014
HP:0001347HP:0011448Ankle clonus2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0011728Elbow clonus2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0011449Knee clonus2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0033205Biceps hyperreflexia2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0033203Brachioradialis hyperreflexia2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0033204Triceps hyperreflexia2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0033206Hyperactive Achilles reflex2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0007083Hyperactive patellar reflex2GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM132317494608803
HP:0001347HP:0011448Ankle clonus2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0011728Elbow clonus2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0011449Knee clonus2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0033205Biceps hyperreflexia2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0033203Brachioradialis hyperreflexia2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0033204Triceps hyperreflexia2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0033206Hyperactive Achilles reflex2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0007083Hyperactive patellar reflex2GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM122384313238300
HP:0001347HP:0011448Ankle clonus2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0011728Elbow clonus2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0011449Knee clonus2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0033205Biceps hyperreflexia2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0033203Brachioradialis hyperreflexia2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0033204Triceps hyperreflexia2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0033206Hyperactive Achilles reflex2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0007083Hyperactive patellar reflex2GLRA1 CL E G H27413197Lateral body wall defectORPHA14474326138491
HP:0001347HP:0011448Ankle clonus2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0011728Elbow clonus2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0011449Knee clonus2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0033205Biceps hyperreflexia2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0033203Brachioradialis hyperreflexia2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0033204Triceps hyperreflexia2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0033206Hyperactive Achilles reflex2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0007083Hyperactive patellar reflex2GLRB CL E G H2743614619Hyperekplexia 2614619C3553291OMIM13794329138492
HP:0001347HP:0011448Ankle clonus2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0011728Elbow clonus2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0011449Knee clonus2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0033205Biceps hyperreflexia2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0033203Brachioradialis hyperreflexia2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0033204Triceps hyperreflexia2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0033206Hyperactive Achilles reflex2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0007083Hyperactive patellar reflex2GLRB CL E G H27433197Lateral body wall defectORPHA13794329138492
HP:0001347HP:0011448Ankle clonus2GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0011728Elbow clonus2GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0011449Knee clonus2GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0033205Biceps hyperreflexia2GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0033203Brachioradialis hyperreflexia2GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0033204Triceps hyperreflexia2GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0033206Hyperactive Achilles reflex2GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0007083Hyperactive patellar reflex2GLRX5 CL E G H51218401866ORPHA111120134609588
HP:0001347HP:0011448Ankle clonus2GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0011728Elbow clonus2GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0011449Knee clonus2GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0033205Biceps hyperreflexia2GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0033203Brachioradialis hyperreflexia2GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0033204Triceps hyperreflexia2GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0033206Hyperactive Achilles reflex2GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0007083Hyperactive patellar reflex2GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM111120134609588
HP:0001347HP:0011448Ankle clonus2GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0011728Elbow clonus2GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0011449Knee clonus2GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0033205Biceps hyperreflexia2GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0033203Brachioradialis hyperreflexia2GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0033204Triceps hyperreflexia2GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0033206Hyperactive Achilles reflex2GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0007083Hyperactive patellar reflex2GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12564341138290
HP:0001347HP:0011448Ankle clonus2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0011728Elbow clonus2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0011449Knee clonus2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0033205Biceps hyperreflexia2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0033203Brachioradialis hyperreflexia2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0033204Triceps hyperreflexia2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0033206Hyperactive Achilles reflex2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0007083Hyperactive patellar reflex2GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM116624247610516
HP:0001347HP:0011448Ankle clonus2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0011728Elbow clonus2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0011449Knee clonus2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0033205Biceps hyperreflexia2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0033203Brachioradialis hyperreflexia2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0033204Triceps hyperreflexia2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0033206Hyperactive Achilles reflex2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0007083Hyperactive patellar reflex2GM2A CL E G H2760309246ORPHA12124367613109
HP:0001347HP:0011448Ankle clonus2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0011728Elbow clonus2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0011449Knee clonus2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0033205Biceps hyperreflexia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0033203Brachioradialis hyperreflexia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0033204Triceps hyperreflexia2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0033206Hyperactive Achilles reflex2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0007083Hyperactive patellar reflex2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM12124367613109
HP:0001347HP:0011448Ankle clonus2GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0011728Elbow clonus2GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0011449Knee clonus2GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0033205Biceps hyperreflexia2GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0033203Brachioradialis hyperreflexia2GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0033204Triceps hyperreflexia2GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0033206Hyperactive Achilles reflex2GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0007083Hyperactive patellar reflex2GNAQ CL E G H27763205LBWD syndromeORPHA1914390600998
HP:0001347HP:0011448Ankle clonus2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0011728Elbow clonus2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0011449Knee clonus2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0033205Biceps hyperreflexia2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0033203Brachioradialis hyperreflexia2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0033204Triceps hyperreflexia2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0033206Hyperactive Achilles reflex2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0007083Hyperactive patellar reflex2GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM15274446603048
HP:0001347HP:0011448Ankle clonus2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0011728Elbow clonus2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0011449Knee clonus2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0033205Biceps hyperreflexia2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0033203Brachioradialis hyperreflexia2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0033204Triceps hyperreflexia2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0033206Hyperactive Achilles reflex2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0007083Hyperactive patellar reflex2GPHN CL E G H102433197Lateral body wall defectORPHA1147315465603930
HP:0001347HP:0011448Ankle clonus2GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0011728Elbow clonus2GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0011449Knee clonus2GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0033205Biceps hyperreflexia2GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0033203Brachioradialis hyperreflexia2GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0033204Triceps hyperreflexia2GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0033206Hyperactive Achilles reflex2GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0007083Hyperactive patellar reflex2GPHN CL E G H10243615501Molybdenum cofactor deficiency, complementation group C615501C1854990OMIM1147315465603930
HP:0001347HP:0011448Ankle clonus2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0011728Elbow clonus2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0011449Knee clonus2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0033205Biceps hyperreflexia2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0033203Brachioradialis hyperreflexia2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0033204Triceps hyperreflexia2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0033206Hyperactive Achilles reflex2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0007083Hyperactive patellar reflex2GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA110918062138210
HP:0001347HP:0011448Ankle clonus2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0011728Elbow clonus2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0011449Knee clonus2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0033205Biceps hyperreflexia2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0033203Brachioradialis hyperreflexia2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0033204Triceps hyperreflexia2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0033206Hyperactive Achilles reflex2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0007083Hyperactive patellar reflex2GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM110918062138210
HP:0001347HP:0011448Ankle clonus2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0011728Elbow clonus2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0011449Knee clonus2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0033205Biceps hyperreflexia2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0033203Brachioradialis hyperreflexia2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0033204Triceps hyperreflexia2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0033206Hyperactive Achilles reflex2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0007083Hyperactive patellar reflex2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM19294584138249
HP:0001347HP:0011448Ankle clonus2GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0011728Elbow clonus2GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0011449Knee clonus2GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0033205Biceps hyperreflexia2GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0033203Brachioradialis hyperreflexia2GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0033204Triceps hyperreflexia2GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0033206Hyperactive Achilles reflex2GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0007083Hyperactive patellar reflex2GRM1 CL E G H2911324262ORPHA12984593604473
HP:0001347HP:0011448Ankle clonus2GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0011728Elbow clonus2GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0011449Knee clonus2GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0033205Biceps hyperreflexia2GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0033203Brachioradialis hyperreflexia2GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0033204Triceps hyperreflexia2GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0033206Hyperactive Achilles reflex2GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0007083Hyperactive patellar reflex2GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12984593604473
HP:0001347HP:0011448Ankle clonus2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0011728Elbow clonus2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0011449Knee clonus2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0033205Biceps hyperreflexia2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0033203Brachioradialis hyperreflexia2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0033204Triceps hyperreflexia2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0033206Hyperactive Achilles reflex2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0007083Hyperactive patellar reflex2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11784659601679
HP:0001347HP:0011448Ankle clonus2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0011728Elbow clonus2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0011449Knee clonus2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0033205Biceps hyperreflexia2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0033203Brachioradialis hyperreflexia2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0033204Triceps hyperreflexia2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0033206Hyperactive Achilles reflex2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0007083Hyperactive patellar reflex2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12664661604318
HP:0001347HP:0011448Ankle clonus2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0011728Elbow clonus2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0011449Knee clonus2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0033205Biceps hyperreflexia2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0033203Brachioradialis hyperreflexia2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0033204Triceps hyperreflexia2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0033206Hyperactive Achilles reflex2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0007083Hyperactive patellar reflex2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0001347HP:0011448Ankle clonus2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0011728Elbow clonus2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0011449Knee clonus2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0033205Biceps hyperreflexia2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0033203Brachioradialis hyperreflexia2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0033204Triceps hyperreflexia2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0033206Hyperactive Achilles reflex2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0007083Hyperactive patellar reflex2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM16284879606873
HP:0001347HP:0011448Ankle clonus2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0011728Elbow clonus2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0011449Knee clonus2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0033205Biceps hyperreflexia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0033203Brachioradialis hyperreflexia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0033204Triceps hyperreflexia2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0033206Hyperactive Achilles reflex2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0007083Hyperactive patellar reflex2HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM13545157308000
HP:0001347HP:0011448Ankle clonus2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0011728Elbow clonus2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0011449Knee clonus2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0033205Biceps hyperreflexia2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0033203Brachioradialis hyperreflexia2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0033204Triceps hyperreflexia2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0033206Hyperactive Achilles reflex2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0007083Hyperactive patellar reflex2HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA16225173190020
HP:0001347HP:0011448Ankle clonus2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0011728Elbow clonus2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0011449Knee clonus2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0033205Biceps hyperreflexia2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0033203Brachioradialis hyperreflexia2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0033204Triceps hyperreflexia2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0033206Hyperactive Achilles reflex2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0007083Hyperactive patellar reflex2HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM12785261118190
HP:0001347HP:0011448Ankle clonus2HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0011728Elbow clonus2HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0011449Knee clonus2HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0033205Biceps hyperreflexia2HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0033203Brachioradialis hyperreflexia2HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0033204Triceps hyperreflexia2HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0033206Hyperactive Achilles reflex2HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0007083Hyperactive patellar reflex2HSPD1 CL E G H3329605280Spastic paraplegia 13605280C1854467OMIM12785261118190
HP:0001347HP:0011448Ankle clonus2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0011728Elbow clonus2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0011449Knee clonus2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0033205Biceps hyperreflexia2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0033203Brachioradialis hyperreflexia2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0033204Triceps hyperreflexia2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0033206Hyperactive Achilles reflex2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0007083Hyperactive patellar reflex2HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM12859476602194
HP:0001347HP:0011448Ankle clonus2HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0011728Elbow clonus2HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0011449Knee clonus2HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0033205Biceps hyperreflexia2HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0033203Brachioradialis hyperreflexia2HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0033204Triceps hyperreflexia2HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0033206Hyperactive Achilles reflex2HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0007083Hyperactive patellar reflex2HTT CL E G H3064248111ORPHA17604851613004
HP:0001347HP:0011448Ankle clonus2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0011728Elbow clonus2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0011449Knee clonus2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0033205Biceps hyperreflexia2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0033203Brachioradialis hyperreflexia2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0033204Triceps hyperreflexia2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0033206Hyperactive Achilles reflex2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0007083Hyperactive patellar reflex2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17604851613004
HP:0001347HP:0011448Ankle clonus2IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0011728Elbow clonus2IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0011449Knee clonus2IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0033205Biceps hyperreflexia2IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0033203Brachioradialis hyperreflexia2IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0033204Triceps hyperreflexia2IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0033206Hyperactive Achilles reflex2IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0007083Hyperactive patellar reflex2IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM127127302615316
HP:0001347HP:0011448Ankle clonus2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0011728Elbow clonus2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0011449Knee clonus2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0033205Biceps hyperreflexia2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0033203Brachioradialis hyperreflexia2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0033204Triceps hyperreflexia2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0033206Hyperactive Achilles reflex2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0007083Hyperactive patellar reflex2INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA178221474613037
HP:0001347HP:0011448Ankle clonus2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0011728Elbow clonus2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0011449Knee clonus2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0033205Biceps hyperreflexia2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0033203Brachioradialis hyperreflexia2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0033204Triceps hyperreflexia2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0033206Hyperactive Achilles reflex2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0007083Hyperactive patellar reflex2ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM16028660611006
HP:0001347HP:0011448Ankle clonus2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0011728Elbow clonus2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0011449Knee clonus2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0033205Biceps hyperreflexia2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0033203Brachioradialis hyperreflexia2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0033204Triceps hyperreflexia2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0033206Hyperactive Achilles reflex2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0007083Hyperactive patellar reflex2ISCA2 CL E G H122961616370Multiple mitochondrial dysfunctions syndrome 4616370C4225348OMIM18319857615317
HP:0001347HP:0011448Ankle clonus2ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0011728Elbow clonus2ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0011449Knee clonus2ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0033205Biceps hyperreflexia2ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0033203Brachioradialis hyperreflexia2ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0033204Triceps hyperreflexia2ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0033206Hyperactive Achilles reflex2ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0007083Hyperactive patellar reflex2ITPR1 CL E G H370898769ORPHA115636180147265
HP:0001347HP:0011448Ankle clonus2ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0011728Elbow clonus2ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0011449Knee clonus2ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0033205Biceps hyperreflexia2ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0033203Brachioradialis hyperreflexia2ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0033204Triceps hyperreflexia2ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0033206Hyperactive Achilles reflex2ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0007083Hyperactive patellar reflex2ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM115636180147265
HP:0001347HP:0011448Ankle clonus2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0011728Elbow clonus2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0011449Knee clonus2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0033205Biceps hyperreflexia2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0033203Brachioradialis hyperreflexia2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0033204Triceps hyperreflexia2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0033206Hyperactive Achilles reflex2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0007083Hyperactive patellar reflex2JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM126515532606871
HP:0001347HP:0011448Ankle clonus2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0011728Elbow clonus2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0011449Knee clonus2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0033205Biceps hyperreflexia2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0033203Brachioradialis hyperreflexia2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0033204Triceps hyperreflexia2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0033206Hyperactive Achilles reflex2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0007083Hyperactive patellar reflex2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM117614203605268
HP:0001347HP:0011448Ankle clonus2KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0011728Elbow clonus2KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0011449Knee clonus2KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0033205Biceps hyperreflexia2KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0033203Brachioradialis hyperreflexia2KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0033204Triceps hyperreflexia2KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0033206Hyperactive Achilles reflex2KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0007083Hyperactive patellar reflex2KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM15756218176260
HP:0001347HP:0011448Ankle clonus2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0011728Elbow clonus2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0011449Knee clonus2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0033205Biceps hyperreflexia2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0033203Brachioradialis hyperreflexia2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0033204Triceps hyperreflexia2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0033206Hyperactive Achilles reflex2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0007083Hyperactive patellar reflex2KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM13116235176264
HP:0001347HP:0011448Ankle clonus2KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0011728Elbow clonus2KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0011449Knee clonus2KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0033205Biceps hyperreflexia2KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0033203Brachioradialis hyperreflexia2KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0033204Triceps hyperreflexia2KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0033206Hyperactive Achilles reflex2KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0007083Hyperactive patellar reflex2KCND3 CL E G H375298772ORPHA14676239605411
HP:0001347HP:0011448Ankle clonus2KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0011728Elbow clonus2KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0011449Knee clonus2KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0033205Biceps hyperreflexia2KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0033203Brachioradialis hyperreflexia2KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0033204Triceps hyperreflexia2KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0033206Hyperactive Achilles reflex2KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0007083Hyperactive patellar reflex2KCNJ6 CL E G H3763435628ORPHA11516267600877
HP:0001347HP:0011448Ankle clonus2KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0011728Elbow clonus2KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0011449Knee clonus2KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0033205Biceps hyperreflexia2KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0033203Brachioradialis hyperreflexia2KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0033204Triceps hyperreflexia2KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0033206Hyperactive Achilles reflex2KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0007083Hyperactive patellar reflex2KCNJ6 CL E G H3763614098Keppen-Lubinsky syndrome614098C3279800OMIM11516267600877
HP:0001347HP:0011448Ankle clonus2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0011728Elbow clonus2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0011449Knee clonus2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0033205Biceps hyperreflexia2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0033203Brachioradialis hyperreflexia2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0033204Triceps hyperreflexia2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0033206Hyperactive Achilles reflex2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0007083Hyperactive patellar reflex2KDM5C CL E G H824285279ORPHA175611114314690
HP:0001347HP:0011448Ankle clonus2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0011728Elbow clonus2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0011449Knee clonus2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0033205Biceps hyperreflexia2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0033203Brachioradialis hyperreflexia2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0033204Triceps hyperreflexia2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0033206Hyperactive Achilles reflex2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0007083Hyperactive patellar reflex2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM161729508615759
HP:0001347HP:0011448Ankle clonus2KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0011728Elbow clonus2KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0011449Knee clonus2KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0033205Biceps hyperreflexia2KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0033203Brachioradialis hyperreflexia2KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0033204Triceps hyperreflexia2KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0033206Hyperactive Achilles reflex2KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0007083Hyperactive patellar reflex2KIF14 CL E G H99282512ORPHA128819181611279
HP:0001347HP:0011448Ankle clonus2KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0011728Elbow clonus2KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0011449Knee clonus2KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0033205Biceps hyperreflexia2KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0033203Brachioradialis hyperreflexia2KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0033204Triceps hyperreflexia2KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0033206Hyperactive Achilles reflex2KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0007083Hyperactive patellar reflex2KIF1A CL E G H5472836ORPHA12622888601255
HP:0001347HP:0011448Ankle clonus2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0011728Elbow clonus2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0011449Knee clonus2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0033205Biceps hyperreflexia2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0033203Brachioradialis hyperreflexia2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0033204Triceps hyperreflexia2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0033206Hyperactive Achilles reflex2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0007083Hyperactive patellar reflex2KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12622888601255
HP:0001347HP:0011448Ankle clonus2KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0011728Elbow clonus2KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0011449Knee clonus2KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0033205Biceps hyperreflexia2KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0033203Brachioradialis hyperreflexia2KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0033204Triceps hyperreflexia2KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0033206Hyperactive Achilles reflex2KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0007083Hyperactive patellar reflex2KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12622888601255
HP:0001347HP:0011448Ankle clonus2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0011728Elbow clonus2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0011449Knee clonus2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0033205Biceps hyperreflexia2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0033203Brachioradialis hyperreflexia2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0033204Triceps hyperreflexia2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0033206Hyperactive Achilles reflex2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0007083Hyperactive patellar reflex2KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM15796317603060
HP:0001347HP:0011448Ankle clonus2KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0011728Elbow clonus2KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0011449Knee clonus2KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0033205Biceps hyperreflexia2KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0033203Brachioradialis hyperreflexia2KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0033204Triceps hyperreflexia2KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0033206Hyperactive Achilles reflex2KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0007083Hyperactive patellar reflex2KIF5A CL E G H3798604187Spastic paraplegia 10604187C1858712OMIM110146323602821
HP:0001347HP:0011448Ankle clonus2KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0011728Elbow clonus2KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0011449Knee clonus2KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0033205Biceps hyperreflexia2KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0033203Brachioradialis hyperreflexia2KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0033204Triceps hyperreflexia2KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0033206Hyperactive Achilles reflex2KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0007083Hyperactive patellar reflex2KNL1 CL E G H570822512ORPHA138224054609173
HP:0001347HP:0011448Ankle clonus2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0011728Elbow clonus2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0011449Knee clonus2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0033205Biceps hyperreflexia2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0033203Brachioradialis hyperreflexia2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0033204Triceps hyperreflexia2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0033206Hyperactive Achilles reflex2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0007083Hyperactive patellar reflex2KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14806407190070
HP:0001347HP:0011448Ankle clonus2L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0011728Elbow clonus2L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0011449Knee clonus2L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0033205Biceps hyperreflexia2L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0033203Brachioradialis hyperreflexia2L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0033204Triceps hyperreflexia2L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0033206Hyperactive Achilles reflex2L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0007083Hyperactive patellar reflex2L1CAM CL E G H38972466ORPHA19686470308840
HP:0001347HP:0011448Ankle clonus2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0011728Elbow clonus2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0011449Knee clonus2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0033205Biceps hyperreflexia2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0033203Brachioradialis hyperreflexia2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0033204Triceps hyperreflexia2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0033206Hyperactive Achilles reflex2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0007083Hyperactive patellar reflex2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA12326613601329
HP:0001347HP:0011448Ankle clonus2LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0011728Elbow clonus2LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0011449Knee clonus2LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0033205Biceps hyperreflexia2LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0033203Brachioradialis hyperreflexia2LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0033204Triceps hyperreflexia2LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0033206Hyperactive Achilles reflex2LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0007083Hyperactive patellar reflex2LINS1 CL E G H55180614340Mental retardation, autosomal recessive 27614340C3280538OMIM127530922610350
HP:0001347HP:0011448Ankle clonus2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0011728Elbow clonus2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0011449Knee clonus2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0033205Biceps hyperreflexia2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0033203Brachioradialis hyperreflexia2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0033204Triceps hyperreflexia2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0033206Hyperactive Achilles reflex2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0007083Hyperactive patellar reflex2LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001347HP:0011448Ankle clonus2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0011728Elbow clonus2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0011449Knee clonus2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0033205Biceps hyperreflexia2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0033203Brachioradialis hyperreflexia2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0033204Triceps hyperreflexia2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0033206Hyperactive Achilles reflex2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0007083Hyperactive patellar reflex2LMNB1 CL E G H400199027ORPHA12416637150340
HP:0001347HP:0011448Ankle clonus2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0011728Elbow clonus2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0011449Knee clonus2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0033205Biceps hyperreflexia2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0033203Brachioradialis hyperreflexia2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0033204Triceps hyperreflexia2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0033206Hyperactive Achilles reflex2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0007083Hyperactive patellar reflex2LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM12416637150340
HP:0001347HP:0011448Ankle clonus2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0011728Elbow clonus2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0011449Knee clonus2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0033205Biceps hyperreflexia2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0033203Brachioradialis hyperreflexia2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0033204Triceps hyperreflexia2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0033206Hyperactive Achilles reflex2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0007083Hyperactive patellar reflex2MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM113516826609458
HP:0001347HP:0011448Ankle clonus2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0011728Elbow clonus2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0011449Knee clonus2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0033205Biceps hyperreflexia2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0033203Brachioradialis hyperreflexia2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0033204Triceps hyperreflexia2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0033206Hyperactive Achilles reflex2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0007083Hyperactive patellar reflex2MARS2 CL E G H92935314603ORPHA120425133609728
HP:0001347HP:0011448Ankle clonus2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0011728Elbow clonus2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0011449Knee clonus2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0033205Biceps hyperreflexia2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0033203Brachioradialis hyperreflexia2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0033204Triceps hyperreflexia2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0033206Hyperactive Achilles reflex2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0007083Hyperactive patellar reflex2MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM120425133609728
HP:0001347HP:0011448Ankle clonus2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0011728Elbow clonus2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0011449Knee clonus2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0033205Biceps hyperreflexia2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0033203Brachioradialis hyperreflexia2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0033204Triceps hyperreflexia2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0033206Hyperactive Achilles reflex2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0007083Hyperactive patellar reflex2MAT1A CL E G H4143250850Hepatic methionine adenosyltransferase deficiency250850C0268621OMIM13536903610550
HP:0001347HP:0011448Ankle clonus2MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0011728Elbow clonus2MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0011449Knee clonus2MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0033205Biceps hyperreflexia2MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0033203Brachioradialis hyperreflexia2MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0033204Triceps hyperreflexia2MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0033206Hyperactive Achilles reflex2MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0007083Hyperactive patellar reflex2MATR3 CL E G H9782600ORPHA14506912164015
HP:0001347HP:0011448Ankle clonus2MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0011728Elbow clonus2MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0011449Knee clonus2MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0033205Biceps hyperreflexia2MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0033203Brachioradialis hyperreflexia2MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0033204Triceps hyperreflexia2MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0033206Hyperactive Achilles reflex2MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0007083Hyperactive patellar reflex2MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0001347HP:0011448Ankle clonus2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0011728Elbow clonus2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0011449Knee clonus2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0033205Biceps hyperreflexia2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0033203Brachioradialis hyperreflexia2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0033204Triceps hyperreflexia2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0033206Hyperactive Achilles reflex2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0007083Hyperactive patellar reflex2MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM17206936609010
HP:0001347HP:0011448Ankle clonus2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0011728Elbow clonus2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0011449Knee clonus2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0033205Biceps hyperreflexia2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0033203Brachioradialis hyperreflexia2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0033204Triceps hyperreflexia2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0033206Hyperactive Achilles reflex2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0007083Hyperactive patellar reflex2MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM16446937609014
HP:0001347HP:0011448Ankle clonus2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0011728Elbow clonus2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0011449Knee clonus2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0033205Biceps hyperreflexia2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0033203Brachioradialis hyperreflexia2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0033204Triceps hyperreflexia2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0033206Hyperactive Achilles reflex2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0007083Hyperactive patellar reflex2MCOLN1 CL E G H57192578Akesson syndromeORPHA166913356605248
HP:0001347HP:0011448Ankle clonus2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0011728Elbow clonus2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0011449Knee clonus2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0033205Biceps hyperreflexia2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0033203Brachioradialis hyperreflexia2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0033204Triceps hyperreflexia2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0033206Hyperactive Achilles reflex2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0007083Hyperactive patellar reflex2MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM166913356605248
HP:0001347HP:0011448Ankle clonus2MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0011728Elbow clonus2MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0011449Knee clonus2MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0033205Biceps hyperreflexia2MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0033203Brachioradialis hyperreflexia2MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0033204Triceps hyperreflexia2MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0033206Hyperactive Achilles reflex2MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0007083Hyperactive patellar reflex2MCPH1 CL E G H796482512ORPHA17736954607117
HP:0001347HP:0011448Ankle clonus2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0011728Elbow clonus2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0011449Knee clonus2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0033205Biceps hyperreflexia2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0033203Brachioradialis hyperreflexia2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0033204Triceps hyperreflexia2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0033206Hyperactive Achilles reflex2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0007083Hyperactive patellar reflex2MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM119256990300005
HP:0001347HP:0011448Ankle clonus2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0011728Elbow clonus2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0011449Knee clonus2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0033205Biceps hyperreflexia2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0033203Brachioradialis hyperreflexia2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0033204Triceps hyperreflexia2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0033206Hyperactive Achilles reflex2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0007083Hyperactive patellar reflex2MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM119256990300005
HP:0001347HP:0011448Ankle clonus2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0011728Elbow clonus2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0011449Knee clonus2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0033205Biceps hyperreflexia2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0033203Brachioradialis hyperreflexia2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0033204Triceps hyperreflexia2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0033206Hyperactive Achilles reflex2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0007083Hyperactive patellar reflex2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM115119691608205
HP:0001347HP:0011448Ankle clonus2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0011728Elbow clonus2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0011449Knee clonus2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0033205Biceps hyperreflexia2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0033203Brachioradialis hyperreflexia2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0033204Triceps hyperreflexia2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0033206Hyperactive Achilles reflex2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0007083Hyperactive patellar reflex2MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM115524858614785
HP:0001347HP:0011448Ankle clonus2MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0011728Elbow clonus2MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0011449Knee clonus2MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0033205Biceps hyperreflexia2MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0033203Brachioradialis hyperreflexia2MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0033204Triceps hyperreflexia2MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0033206Hyperactive Achilles reflex2MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0007083Hyperactive patellar reflex2MFSD2A CL E G H848792512ORPHA114725897614397
HP:0001347HP:0011448Ankle clonus2MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0011728Elbow clonus2MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0011449Knee clonus2MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0033205Biceps hyperreflexia2MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0033203Brachioradialis hyperreflexia2MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0033204Triceps hyperreflexia2MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0033206Hyperactive Achilles reflex2MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0007083Hyperactive patellar reflex2MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM114725897614397
HP:0001347HP:0011448Ankle clonus2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0011728Elbow clonus2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0011449Knee clonus2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0033205Biceps hyperreflexia2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0033203Brachioradialis hyperreflexia2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0033204Triceps hyperreflexia2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0033206Hyperactive Achilles reflex2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0007083Hyperactive patellar reflex2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM124812744605678
HP:0001347HP:0011448Ankle clonus2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0011728Elbow clonus2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0011449Knee clonus2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0033205Biceps hyperreflexia2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0033203Brachioradialis hyperreflexia2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0033204Triceps hyperreflexia2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0033206Hyperactive Achilles reflex2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0007083Hyperactive patellar reflex2MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0001347HP:0011448Ankle clonus2MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0011728Elbow clonus2MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0011449Knee clonus2MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0033205Biceps hyperreflexia2MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0033203Brachioradialis hyperreflexia2MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0033204Triceps hyperreflexia2MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0033206Hyperactive Achilles reflex2MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0007083Hyperactive patellar reflex2MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0001347HP:0011448Ankle clonus2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0011728Elbow clonus2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0011449Knee clonus2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0033205Biceps hyperreflexia2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0033203Brachioradialis hyperreflexia2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0033204Triceps hyperreflexia2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0033206Hyperactive Achilles reflex2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0007083Hyperactive patellar reflex2MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001347HP:0011448Ankle clonus2MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0011728Elbow clonus2MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0011449Knee clonus2MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0033205Biceps hyperreflexia2MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0033203Brachioradialis hyperreflexia2MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0033204Triceps hyperreflexia2MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0033206Hyperactive Achilles reflex2MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0007083Hyperactive patellar reflex2MTPAP CL E G H55149254343ORPHA134625532613669
HP:0001347HP:0011448Ankle clonus2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0011728Elbow clonus2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0011449Knee clonus2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0033205Biceps hyperreflexia2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0033203Brachioradialis hyperreflexia2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0033204Triceps hyperreflexia2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0033206Hyperactive Achilles reflex2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0007083Hyperactive patellar reflex2MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM134625532613669
HP:0001347HP:0011448Ankle clonus2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0011728Elbow clonus2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0011449Knee clonus2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0033205Biceps hyperreflexia2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0033203Brachioradialis hyperreflexia2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0033204Triceps hyperreflexia2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0033206Hyperactive Achilles reflex2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0007083Hyperactive patellar reflex2NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM12307631104170
HP:0001347HP:0011448Ankle clonus2NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0011728Elbow clonus2NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0011449Knee clonus2NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0033205Biceps hyperreflexia2NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0033203Brachioradialis hyperreflexia2NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0033204Triceps hyperreflexia2NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0033206Hyperactive Achilles reflex2NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0007083Hyperactive patellar reflex2NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM187719082611549
HP:0001347HP:0011448Ankle clonus2NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0011728Elbow clonus2NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0011449Knee clonus2NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0033205Biceps hyperreflexia2NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0033203Brachioradialis hyperreflexia2NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0033204Triceps hyperreflexia2NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0033206Hyperactive Achilles reflex2NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0007083Hyperactive patellar reflex2NCAPD3 CL E G H233102512ORPHA121728952609276
HP:0001347HP:0011448Ankle clonus2NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0011728Elbow clonus2NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0011449Knee clonus2NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0033205Biceps hyperreflexia2NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0033204Triceps hyperreflexia2NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0033206Hyperactive Achilles reflex2NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0007083Hyperactive patellar reflex2NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1162317619609449
HP:0001347HP:0011448Ankle clonus2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0011728Elbow clonus2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0011449Knee clonus2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0033205Biceps hyperreflexia2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0033204Triceps hyperreflexia2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001347HP:0011448Ankle clonus2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0011728Elbow clonus2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0011449Knee clonus2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0033205Biceps hyperreflexia2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0033204Triceps hyperreflexia2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001347HP:0011448Ankle clonus2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0011728Elbow clonus2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0011449Knee clonus2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0033205Biceps hyperreflexia2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0033204Triceps hyperreflexia2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001347HP:0011448Ankle clonus2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0011728Elbow clonus2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0011449Knee clonus2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0033205Biceps hyperreflexia2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0033204Triceps hyperreflexia2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001347HP:0011448Ankle clonus2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0011728Elbow clonus2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0011449Knee clonus2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0033205Biceps hyperreflexia2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0033204Triceps hyperreflexia2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001347HP:0011448Ankle clonus2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0011728Elbow clonus2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0011449Knee clonus2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0033205Biceps hyperreflexia2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0033204Triceps hyperreflexia2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001347HP:0011448Ankle clonus2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0011728Elbow clonus2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0011449Knee clonus2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0033205Biceps hyperreflexia2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0033204Triceps hyperreflexia2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001347HP:0011448Ankle clonus2NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0011728Elbow clonus2NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0011449Knee clonus2NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0033205Biceps hyperreflexia2NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0033204Triceps hyperreflexia2NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM112329918612911
HP:0001347HP:0011448Ankle clonus2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0011728Elbow clonus2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0011449Knee clonus2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0033205Biceps hyperreflexia2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0033204Triceps hyperreflexia2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM113621034611776
HP:0001347HP:0011448Ankle clonus2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0011728Elbow clonus2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0011449Knee clonus2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0033205Biceps hyperreflexia2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0033204Triceps hyperreflexia2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001347HP:0011448Ankle clonus2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0011728Elbow clonus2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0011449Knee clonus2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0033205Biceps hyperreflexia2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0033204Triceps hyperreflexia2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001347HP:0011448Ankle clonus2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0011728Elbow clonus2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0011449Knee clonus2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0033205Biceps hyperreflexia2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0033204Triceps hyperreflexia2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001347HP:0011448Ankle clonus2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0011728Elbow clonus2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0011449Knee clonus2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0033205Biceps hyperreflexia2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0033204Triceps hyperreflexia2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM14247707157655
HP:0001347HP:0011448Ankle clonus2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0011728Elbow clonus2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0011449Knee clonus2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0033205Biceps hyperreflexia2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0033204Triceps hyperreflexia2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001347HP:0011448Ankle clonus2NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0011728Elbow clonus2NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0011449Knee clonus2NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0033205Biceps hyperreflexia2NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0033204Triceps hyperreflexia2NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFS2 CL E G H4720618228MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6618228OMIM12477708602985
HP:0001347HP:0011448Ankle clonus2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0011728Elbow clonus2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0011449Knee clonus2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0033205Biceps hyperreflexia2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0033204Triceps hyperreflexia2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001347HP:0011448Ankle clonus2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0011728Elbow clonus2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0011449Knee clonus2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0033205Biceps hyperreflexia2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0033204Triceps hyperreflexia2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001347HP:0011448Ankle clonus2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0011728Elbow clonus2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0011449Knee clonus2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0033205Biceps hyperreflexia2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0033204Triceps hyperreflexia2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001347HP:0011448Ankle clonus2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0011728Elbow clonus2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0011449Knee clonus2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0033205Biceps hyperreflexia2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0033204Triceps hyperreflexia2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001347HP:0011448Ankle clonus2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0011728Elbow clonus2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0011449Knee clonus2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0033205Biceps hyperreflexia2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0033204Triceps hyperreflexia2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM12157714601825
HP:0001347HP:0011448Ankle clonus2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0011728Elbow clonus2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0011449Knee clonus2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0033205Biceps hyperreflexia2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0033204Triceps hyperreflexia2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001347HP:0011448Ankle clonus2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0011728Elbow clonus2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0011449Knee clonus2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0033205Biceps hyperreflexia2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0033204Triceps hyperreflexia2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM11297715602141
HP:0001347HP:0011448Ankle clonus2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0011728Elbow clonus2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0011449Knee clonus2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0033205Biceps hyperreflexia2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0033204Triceps hyperreflexia2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001347HP:0011448Ankle clonus2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0011728Elbow clonus2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0011449Knee clonus2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0033205Biceps hyperreflexia2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0033203Brachioradialis hyperreflexia2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0033204Triceps hyperreflexia2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0033206Hyperactive Achilles reflex2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0007083Hyperactive patellar reflex2NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001347HP:0011448Ankle clonus2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0011728Elbow clonus2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0011449Knee clonus2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0033205Biceps hyperreflexia2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0033203Brachioradialis hyperreflexia2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0033204Triceps hyperreflexia2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0033206Hyperactive Achilles reflex2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0007083Hyperactive patellar reflex2NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM11857758608272
HP:0001347HP:0011448Ankle clonus2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0011728Elbow clonus2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0011449Knee clonus2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0033205Biceps hyperreflexia2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0033203Brachioradialis hyperreflexia2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0033204Triceps hyperreflexia2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0033206Hyperactive Achilles reflex2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0007083Hyperactive patellar reflex2NKX6-2 CL E G H84504527497ORPHA123319321605955
HP:0001347HP:0011448Ankle clonus2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0011728Elbow clonus2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0011449Knee clonus2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0033205Biceps hyperreflexia2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0033203Brachioradialis hyperreflexia2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0033204Triceps hyperreflexia2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0033206Hyperactive Achilles reflex2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0007083Hyperactive patellar reflex2NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12817989164790
HP:0001347HP:0011448Ankle clonus2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0011728Elbow clonus2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0011449Knee clonus2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0033205Biceps hyperreflexia2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0033203Brachioradialis hyperreflexia2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0033204Triceps hyperreflexia2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0033206Hyperactive Achilles reflex2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0007083Hyperactive patellar reflex2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM1173414234606681
HP:0001347HP:0011448Ankle clonus2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0011728Elbow clonus2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0011449Knee clonus2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0033205Biceps hyperreflexia2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0033203Brachioradialis hyperreflexia2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0033204Triceps hyperreflexia2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0033206Hyperactive Achilles reflex2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0007083Hyperactive patellar reflex2NSUN2 CL E G H54888611091Mental retardation, autosomal recessive 5611091C1970199OMIM156625994610916
HP:0001347HP:0011448Ankle clonus2NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0011728Elbow clonus2NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0011449Knee clonus2NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0033205Biceps hyperreflexia2NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0033203Brachioradialis hyperreflexia2NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0033204Triceps hyperreflexia2NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0033206Hyperactive Achilles reflex2NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0007083Hyperactive patellar reflex2NT5C2 CL E G H22978320396ORPHA12308022600417
HP:0001347HP:0011448Ankle clonus2NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0011728Elbow clonus2NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0011449Knee clonus2NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0033205Biceps hyperreflexia2NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0033203Brachioradialis hyperreflexia2NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0033204Triceps hyperreflexia2NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0033206Hyperactive Achilles reflex2NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0007083Hyperactive patellar reflex2NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM12308022600417
HP:0001347HP:0011448Ankle clonus2NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0011728Elbow clonus2NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0011449Knee clonus2NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0033205Biceps hyperreflexia2NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0033203Brachioradialis hyperreflexia2NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0033204Triceps hyperreflexia2NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0033206Hyperactive Achilles reflex2NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0007083Hyperactive patellar reflex2NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM15098032600456
HP:0001347HP:0011448Ankle clonus2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0011728Elbow clonus2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0011449Knee clonus2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0033205Biceps hyperreflexia2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0033203Brachioradialis hyperreflexia2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0033204Triceps hyperreflexia2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0033206Hyperactive Achilles reflex2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0007083Hyperactive patellar reflex2NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM128420278613621
HP:0001347HP:0011448Ankle clonus2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0011728Elbow clonus2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0011449Knee clonus2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0033205Biceps hyperreflexia2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0033203Brachioradialis hyperreflexia2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0033204Triceps hyperreflexia2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0033206Hyperactive Achilles reflex2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0007083Hyperactive patellar reflex2NUP62 CL E G H23636225154ORPHA11618066605815
HP:0001347HP:0011448Ankle clonus2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0011728Elbow clonus2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0011449Knee clonus2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0033205Biceps hyperreflexia2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0033203Brachioradialis hyperreflexia2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0033204Triceps hyperreflexia2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0033206Hyperactive Achilles reflex2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0007083Hyperactive patellar reflex2OCLN CL E G H1005066581229ORPHA11388104602876
HP:0001347HP:0011448Ankle clonus2OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0011728Elbow clonus2OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0011449Knee clonus2OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0033205Biceps hyperreflexia2OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0033203Brachioradialis hyperreflexia2OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0033204Triceps hyperreflexia2OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0033206Hyperactive Achilles reflex2OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0007083Hyperactive patellar reflex2OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM112248140605290
HP:0001347HP:0011448Ankle clonus2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0011728Elbow clonus2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0011449Knee clonus2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0033205Biceps hyperreflexia2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0033203Brachioradialis hyperreflexia2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0033204Triceps hyperreflexia2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0033206Hyperactive Achilles reflex2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0007083Hyperactive patellar reflex2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM15238142606580
HP:0001347HP:0011448Ankle clonus2PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0011728Elbow clonus2PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0011449Knee clonus2PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0033205Biceps hyperreflexia2PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0033203Brachioradialis hyperreflexia2PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0033204Triceps hyperreflexia2PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0033206Hyperactive Achilles reflex2PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0007083Hyperactive patellar reflex2PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM114468582612349
HP:0001347HP:0011448Ankle clonus2PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0011728Elbow clonus2PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0011449Knee clonus2PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0033205Biceps hyperreflexia2PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0033203Brachioradialis hyperreflexia2PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0033204Triceps hyperreflexia2PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0033206Hyperactive Achilles reflex2PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0007083Hyperactive patellar reflex2PANK2 CL E G H80025216866ORPHA149915894606157
HP:0001347HP:0011448Ankle clonus2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0011728Elbow clonus2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0011449Knee clonus2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0033205Biceps hyperreflexia2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0033203Brachioradialis hyperreflexia2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0033204Triceps hyperreflexia2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0033206Hyperactive Achilles reflex2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0007083Hyperactive patellar reflex2PANK2 CL E G H80025216873ORPHA149915894606157
HP:0001347HP:0011448Ankle clonus2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0011728Elbow clonus2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0011449Knee clonus2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0033205Biceps hyperreflexia2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0033203Brachioradialis hyperreflexia2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0033204Triceps hyperreflexia2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0033206Hyperactive Achilles reflex2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0007083Hyperactive patellar reflex2PAX1 CL E G H50752792Hyperbilirubinemia type 1ORPHA13588615167411
HP:0001347HP:0011448Ankle clonus2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0011728Elbow clonus2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0011449Knee clonus2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0033205Biceps hyperreflexia2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0033203Brachioradialis hyperreflexia2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0033204Triceps hyperreflexia2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0033206Hyperactive Achilles reflex2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0007083Hyperactive patellar reflex2PCDH12 CL E G H51294251280Microcephaly with spastic quadriplegia251280C1855055OMIM13738657605622
HP:0001347HP:0011448Ankle clonus2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0011728Elbow clonus2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0011449Knee clonus2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0033205Biceps hyperreflexia2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0033203Brachioradialis hyperreflexia2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0033204Triceps hyperreflexia2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0033206Hyperactive Achilles reflex2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0007083Hyperactive patellar reflex2PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1243013406604918
HP:0001347HP:0011448Ankle clonus2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0011728Elbow clonus2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0011449Knee clonus2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0033205Biceps hyperreflexia2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0033203Brachioradialis hyperreflexia2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0033204Triceps hyperreflexia2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0033206Hyperactive Achilles reflex2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0007083Hyperactive patellar reflex2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001347HP:0011448Ankle clonus2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0011728Elbow clonus2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0011449Knee clonus2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0033205Biceps hyperreflexia2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0033203Brachioradialis hyperreflexia2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0033204Triceps hyperreflexia2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0033206Hyperactive Achilles reflex2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0007083Hyperactive patellar reflex2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001347HP:0011448Ankle clonus2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0011728Elbow clonus2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0011449Knee clonus2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0033205Biceps hyperreflexia2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0033203Brachioradialis hyperreflexia2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0033204Triceps hyperreflexia2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0033206Hyperactive Achilles reflex2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0007083Hyperactive patellar reflex2PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001347HP:0011448Ankle clonus2PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0011728Elbow clonus2PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0011449Knee clonus2PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0033205Biceps hyperreflexia2PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0033203Brachioradialis hyperreflexia2PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0033204Triceps hyperreflexia2PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0033206Hyperactive Achilles reflex2PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0007083Hyperactive patellar reflex2PDYN CL E G H5173101108ORPHA12008820131340
HP:0001347HP:0011448Ankle clonus2PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0011728Elbow clonus2PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0011449Knee clonus2PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0033205Biceps hyperreflexia2PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0033203Brachioradialis hyperreflexia2PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0033204Triceps hyperreflexia2PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0033206Hyperactive Achilles reflex2PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0007083Hyperactive patellar reflex2PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM12008820131340
HP:0001347HP:0011448Ankle clonus2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0011728Elbow clonus2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0011449Knee clonus2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0033205Biceps hyperreflexia2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0033203Brachioradialis hyperreflexia2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0033204Triceps hyperreflexia2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0033206Hyperactive Achilles reflex2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0007083Hyperactive patellar reflex2PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001347HP:0011448Ankle clonus2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0011728Elbow clonus2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0011449Knee clonus2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0033205Biceps hyperreflexia2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0033204Triceps hyperreflexia2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0007083Hyperactive patellar reflex2PEX1 CL E G H518944MYBPC1-related conditionORPHA115378850602136
HP:0001347HP:0011448Ankle clonus2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0011728Elbow clonus2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0011449Knee clonus2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0033205Biceps hyperreflexia2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0033204Triceps hyperreflexia2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0007083Hyperactive patellar reflex2PEX10 CL E G H519244MYBPC1-related conditionORPHA18038851602859
HP:0001347HP:0011448Ankle clonus2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0011728Elbow clonus2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0011449Knee clonus2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0033205Biceps hyperreflexia2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0033204Triceps hyperreflexia2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0007083Hyperactive patellar reflex2PEX11B CL E G H879944MYBPC1-related conditionORPHA14158853603867
HP:0001347HP:0011448Ankle clonus2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0011728Elbow clonus2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0011449Knee clonus2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0033205Biceps hyperreflexia2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0033204Triceps hyperreflexia2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0007083Hyperactive patellar reflex2PEX12 CL E G H519344MYBPC1-related conditionORPHA14598854601758
HP:0001347HP:0011448Ankle clonus2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0011728Elbow clonus2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0011449Knee clonus2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0033205Biceps hyperreflexia2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0033204Triceps hyperreflexia2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0007083Hyperactive patellar reflex2PEX13 CL E G H519444MYBPC1-related conditionORPHA14978855601789
HP:0001347HP:0011448Ankle clonus2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0011728Elbow clonus2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0011449Knee clonus2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0033205Biceps hyperreflexia2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0033204Triceps hyperreflexia2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0007083Hyperactive patellar reflex2PEX14 CL E G H519544MYBPC1-related conditionORPHA14748856601791
HP:0001347HP:0011448Ankle clonus2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0011728Elbow clonus2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0011449Knee clonus2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0033205Biceps hyperreflexia2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0033204Triceps hyperreflexia2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0007083Hyperactive patellar reflex2PEX16 CL E G H940944MYBPC1-related conditionORPHA14708857603360
HP:0001347HP:0011448Ankle clonus2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0011728Elbow clonus2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0011449Knee clonus2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0033205Biceps hyperreflexia2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0033204Triceps hyperreflexia2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0007083Hyperactive patellar reflex2PEX19 CL E G H582444MYBPC1-related conditionORPHA13799713600279
HP:0001347HP:0011448Ankle clonus2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0011728Elbow clonus2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0011449Knee clonus2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0033205Biceps hyperreflexia2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0033204Triceps hyperreflexia2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0007083Hyperactive patellar reflex2PEX2 CL E G H582844MYBPC1-related conditionORPHA14639717170993
HP:0001347HP:0011448Ankle clonus2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0011728Elbow clonus2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0011449Knee clonus2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0033205Biceps hyperreflexia2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0033204Triceps hyperreflexia2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0007083Hyperactive patellar reflex2PEX26 CL E G H5567044MYBPC1-related conditionORPHA152222965608666
HP:0001347HP:0011448Ankle clonus2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0011728Elbow clonus2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0011449Knee clonus2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0033205Biceps hyperreflexia2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0033204Triceps hyperreflexia2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0007083Hyperactive patellar reflex2PEX3 CL E G H850444MYBPC1-related conditionORPHA13588858603164
HP:0001347HP:0011448Ankle clonus2PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0011728Elbow clonus2PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0011449Knee clonus2PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0033205Biceps hyperreflexia2PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0033204Triceps hyperreflexia2PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0007083Hyperactive patellar reflex2PEX3 CL E G H8504617370Peroxisome biogenesis disorder 10b617370C4479254OMIM13588858603164
HP:0001347HP:0011448Ankle clonus2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0011728Elbow clonus2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0011449Knee clonus2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0033205Biceps hyperreflexia2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0033204Triceps hyperreflexia2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0007083Hyperactive patellar reflex2PEX5 CL E G H583044MYBPC1-related conditionORPHA18589719600414
HP:0001347HP:0011448Ankle clonus2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0011728Elbow clonus2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0011449Knee clonus2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0033205Biceps hyperreflexia2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0033204Triceps hyperreflexia2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0007083Hyperactive patellar reflex2PEX6 CL E G H519044MYBPC1-related conditionORPHA114588859601498
HP:0001347HP:0011448Ankle clonus2PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0011728Elbow clonus2PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0011449Knee clonus2PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0033205Biceps hyperreflexia2PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0033203Brachioradialis hyperreflexia2PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0033204Triceps hyperreflexia2PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0033206Hyperactive Achilles reflex2PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0007083Hyperactive patellar reflex2PGAP1 CL E G H80055401820ORPHA137925712611655
HP:0001347HP:0011448Ankle clonus2PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0011728Elbow clonus2PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0011449Knee clonus2PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0033205Biceps hyperreflexia2PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0033203Brachioradialis hyperreflexia2PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0033204Triceps hyperreflexia2PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0033206Hyperactive Achilles reflex2PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0007083Hyperactive patellar reflex2PHC1 CL E G H19112512ORPHA11293182602978
HP:0001347HP:0011448Ankle clonus2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0011728Elbow clonus2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0011449Knee clonus2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0033205Biceps hyperreflexia2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0033203Brachioradialis hyperreflexia2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0033204Triceps hyperreflexia2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0033206Hyperactive Achilles reflex2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0007083Hyperactive patellar reflex2PIGA CL E G H5277300868Multiple congenital anomalies-hypotonia-seizures syndrome 2300868C3275508OMIM14838957311770
HP:0001347HP:0011448Ankle clonus2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0011728Elbow clonus2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0011449Knee clonus2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0033205Biceps hyperreflexia2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0033203Brachioradialis hyperreflexia2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0033204Triceps hyperreflexia2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0033206Hyperactive Achilles reflex2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0007083Hyperactive patellar reflex2PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM110108967606097
HP:0001347HP:0011448Ankle clonus2PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0011728Elbow clonus2PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0011449Knee clonus2PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0033205Biceps hyperreflexia2PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0033203Brachioradialis hyperreflexia2PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0033204Triceps hyperreflexia2PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0033206Hyperactive Achilles reflex2PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0007083Hyperactive patellar reflex2PIGP CL E G H51227617599Early infantile epileptic encephalopathy 55617599C4539843OMIM11883046605938
HP:0001347HP:0011448Ankle clonus2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0011728Elbow clonus2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0011449Knee clonus2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0033205Biceps hyperreflexia2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0033203Brachioradialis hyperreflexia2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0033204Triceps hyperreflexia2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0033206Hyperactive Achilles reflex2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0007083Hyperactive patellar reflex2PINK1 CL E G H65018605909Parkinson disease 6, autosomal recessive early-onset605909C1853833OMIM138414581608309
HP:0001347HP:0011448Ankle clonus2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0011728Elbow clonus2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0011449Knee clonus2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0033205Biceps hyperreflexia2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0033203Brachioradialis hyperreflexia2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0033204Triceps hyperreflexia2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0033206Hyperactive Achilles reflex2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0007083Hyperactive patellar reflex2PLA2G6 CL E G H8398199351ORPHA17759039603604
HP:0001347HP:0011448Ankle clonus2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0011728Elbow clonus2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0011449Knee clonus2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0033205Biceps hyperreflexia2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0033203Brachioradialis hyperreflexia2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0033204Triceps hyperreflexia2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0033206Hyperactive Achilles reflex2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0007083Hyperactive patellar reflex2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM17759039603604
HP:0001347HP:0011448Ankle clonus2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0011728Elbow clonus2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0011449Knee clonus2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0033205Biceps hyperreflexia2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0033203Brachioradialis hyperreflexia2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0033204Triceps hyperreflexia2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0033206Hyperactive Achilles reflex2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0007083Hyperactive patellar reflex2PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM17759039603604
HP:0001347HP:0011448Ankle clonus2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0011728Elbow clonus2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0011449Knee clonus2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0033205Biceps hyperreflexia2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0033203Brachioradialis hyperreflexia2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0033204Triceps hyperreflexia2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0033206Hyperactive Achilles reflex2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0007083Hyperactive patellar reflex2PLCB1 CL E G H23236613722Early infantile epileptic encephalopathy 12613722C3150988OMIM1110715917607120
HP:0001347HP:0011448Ankle clonus2PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0011728Elbow clonus2PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0011449Knee clonus2PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0033205Biceps hyperreflexia2PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0033203Brachioradialis hyperreflexia2PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0033204Triceps hyperreflexia2PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0033206Hyperactive Achilles reflex2PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0007083Hyperactive patellar reflex2PLP1 CL E G H535499015ORPHA14519086300401
HP:0001347HP:0011448Ankle clonus2PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0011728Elbow clonus2PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0011449Knee clonus2PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0033205Biceps hyperreflexia2PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0033203Brachioradialis hyperreflexia2PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0033204Triceps hyperreflexia2PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0033206Hyperactive Achilles reflex2PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0007083Hyperactive patellar reflex2PLP1 CL E G H5354312920Spastic paraplegia 2312920C1839264OMIM14519086300401
HP:0001347HP:0011448Ankle clonus2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0011728Elbow clonus2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0011449Knee clonus2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0033205Biceps hyperreflexia2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0033203Brachioradialis hyperreflexia2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0033204Triceps hyperreflexia2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0033206Hyperactive Achilles reflex2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0007083Hyperactive patellar reflex2PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM120518667613036
HP:0001347HP:0011448Ankle clonus2PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0011728Elbow clonus2PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0011449Knee clonus2PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0033205Biceps hyperreflexia2PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0033203Brachioradialis hyperreflexia2PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0033204Triceps hyperreflexia2PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0033206Hyperactive Achilles reflex2PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0007083Hyperactive patellar reflex2PNPLA6 CL E G H10908139480ORPHA1121616268603197
HP:0001347HP:0011448Ankle clonus2PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0011728Elbow clonus2PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0011449Knee clonus2PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0033205Biceps hyperreflexia2PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0033203Brachioradialis hyperreflexia2PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0033204Triceps hyperreflexia2PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0033206Hyperactive Achilles reflex2PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0007083Hyperactive patellar reflex2PNPLA6 CL E G H10908612020Spastic paraplegia 39612020C2677586OMIM1121616268603197
HP:0001347HP:0011448Ankle clonus2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0011728Elbow clonus2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0011449Knee clonus2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0033205Biceps hyperreflexia2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0033203Brachioradialis hyperreflexia2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0033204Triceps hyperreflexia2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0033206Hyperactive Achilles reflex2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0007083Hyperactive patellar reflex2POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0001347HP:0011448Ankle clonus2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0011728Elbow clonus2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0011449Knee clonus2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0033205Biceps hyperreflexia2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0033203Brachioradialis hyperreflexia2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0033204Triceps hyperreflexia2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0033206Hyperactive Achilles reflex2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0007083Hyperactive patellar reflex2POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0001347HP:0011448Ankle clonus2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0011728Elbow clonus2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0011449Knee clonus2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0033205Biceps hyperreflexia2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0033203Brachioradialis hyperreflexia2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0033204Triceps hyperreflexia2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0033206Hyperactive Achilles reflex2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0007083Hyperactive patellar reflex2POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0001347HP:0011448Ankle clonus2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0011728Elbow clonus2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0011449Knee clonus2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0033205Biceps hyperreflexia2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0033203Brachioradialis hyperreflexia2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0033204Triceps hyperreflexia2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0033206Hyperactive Achilles reflex2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0007083Hyperactive patellar reflex2POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM151030348614366
HP:0001347HP:0011448Ankle clonus2PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0011728Elbow clonus2PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0011449Knee clonus2PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0033205Biceps hyperreflexia2PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0033203Brachioradialis hyperreflexia2PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0033204Triceps hyperreflexia2PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0033206Hyperactive Achilles reflex2PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0007083Hyperactive patellar reflex2PPP2R2B CL E G H552198762ORPHA1719305604325
HP:0001347HP:0011448Ankle clonus2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0011728Elbow clonus2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0011449Knee clonus2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0033205Biceps hyperreflexia2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0033203Brachioradialis hyperreflexia2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0033204Triceps hyperreflexia2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0033206Hyperactive Achilles reflex2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0007083Hyperactive patellar reflex2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1719305604325
HP:0001347HP:0011448Ankle clonus2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0011728Elbow clonus2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0011449Knee clonus2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0033205Biceps hyperreflexia2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0033203Brachioradialis hyperreflexia2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0033204Triceps hyperreflexia2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0033206Hyperactive Achilles reflex2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0007083Hyperactive patellar reflex2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM13099330300463
HP:0001347HP:0011448Ankle clonus2PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0011728Elbow clonus2PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0011449Knee clonus2PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0033205Biceps hyperreflexia2PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0033204Triceps hyperreflexia2PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0033206Hyperactive Achilles reflex2PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0007083Hyperactive patellar reflex2PRDM8 CL E G H56978324290ORPHA143913993616639
HP:0001347HP:0011448Ankle clonus2PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0011728Elbow clonus2PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0011449Knee clonus2PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0033205Biceps hyperreflexia2PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0033204Triceps hyperreflexia2PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0033206Hyperactive Achilles reflex2PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0007083Hyperactive patellar reflex2PRDM8 CL E G H56978616640Epilepsy, progressive myoclonic, 10616640C4225258OMIM143913993616639
HP:0001347HP:0011448Ankle clonus2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0011728Elbow clonus2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0011449Knee clonus2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0033205Biceps hyperreflexia2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0033204Triceps hyperreflexia2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0033206Hyperactive Achilles reflex2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0007083Hyperactive patellar reflex2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001347HP:0011448Ankle clonus2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0011728Elbow clonus2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0011449Knee clonus2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0033205Biceps hyperreflexia2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0033204Triceps hyperreflexia2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0033206Hyperactive Achilles reflex2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0007083Hyperactive patellar reflex2PRKN CL E G H5071600116Parkinson disease 2600116C1868675OMIM17058607602544
HP:0001347HP:0011448Ankle clonus2PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0011728Elbow clonus2PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0011449Knee clonus2PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0033205Biceps hyperreflexia2PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0033204Triceps hyperreflexia2PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0033206Hyperactive Achilles reflex2PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0007083Hyperactive patellar reflex2PRKRA CL E G H8575210571ORPHA11929438603424
HP:0001347HP:0011448Ankle clonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0011728Elbow clonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0011449Knee clonus2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0033205Biceps hyperreflexia2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0033204Triceps hyperreflexia2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0033206Hyperactive Achilles reflex2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0007083Hyperactive patellar reflex2PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11929438603424
HP:0001347HP:0011448Ankle clonus2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0011728Elbow clonus2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0011449Knee clonus2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0033205Biceps hyperreflexia2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0033204Triceps hyperreflexia2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0033206Hyperactive Achilles reflex2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0007083Hyperactive patellar reflex2PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11919449176640
HP:0001347HP:0011448Ankle clonus2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0011728Elbow clonus2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0011449Knee clonus2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0033205Biceps hyperreflexia2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0033203Brachioradialis hyperreflexia2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0033204Triceps hyperreflexia2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0033206Hyperactive Achilles reflex2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0007083Hyperactive patellar reflex2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001347HP:0011448Ankle clonus2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0011728Elbow clonus2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0011449Knee clonus2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0033205Biceps hyperreflexia2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0033203Brachioradialis hyperreflexia2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0033204Triceps hyperreflexia2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0033206Hyperactive Achilles reflex2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0007083Hyperactive patellar reflex2PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM12639689612719
HP:0001347HP:0011448Ankle clonus2PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0011728Elbow clonus2PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0011449Knee clonus2PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0033205Biceps hyperreflexia2PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0033203Brachioradialis hyperreflexia2PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0033204Triceps hyperreflexia2PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0033206Hyperactive Achilles reflex2PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0007083Hyperactive patellar reflex2PYCR2 CL E G H299202512ORPHA114330262616406
HP:0001347HP:0011448Ankle clonus2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0011728Elbow clonus2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0011449Knee clonus2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0033205Biceps hyperreflexia2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0033203Brachioradialis hyperreflexia2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0033204Triceps hyperreflexia2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0033206Hyperactive Achilles reflex2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0007083Hyperactive patellar reflex2PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM114330262616406
HP:0001347HP:0011448Ankle clonus2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0011728Elbow clonus2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0011449Knee clonus2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0033205Biceps hyperreflexia2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0033203Brachioradialis hyperreflexia2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0033204Triceps hyperreflexia2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0033206Hyperactive Achilles reflex2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0007083Hyperactive patellar reflex2RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM145917063602536
HP:0001347HP:0011448Ankle clonus2RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0011728Elbow clonus2RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0011449Knee clonus2RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0033205Biceps hyperreflexia2RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0033203Brachioradialis hyperreflexia2RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0033204Triceps hyperreflexia2RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0033206Hyperactive Achilles reflex2RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0007083Hyperactive patellar reflex2RARS CL E G H5917438114ORPHA19870107820
HP:0001347HP:0011448Ankle clonus2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0011728Elbow clonus2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0011449Knee clonus2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0033205Biceps hyperreflexia2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0033203Brachioradialis hyperreflexia2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0033204Triceps hyperreflexia2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0033206Hyperactive Achilles reflex2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0007083Hyperactive patellar reflex2RARS CL E G H5917616140Leukodystrophy, hypomyelinating, 9616140C4015323OMIM19870107820
HP:0001347HP:0011448Ankle clonus2RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0011728Elbow clonus2RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0011449Knee clonus2RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0033205Biceps hyperreflexia2RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0033203Brachioradialis hyperreflexia2RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0033204Triceps hyperreflexia2RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0033206Hyperactive Achilles reflex2RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0007083Hyperactive patellar reflex2RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM164121406611524
HP:0001347HP:0011448Ankle clonus2REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0011728Elbow clonus2REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0011449Knee clonus2REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0033205Biceps hyperreflexia2REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0033203Brachioradialis hyperreflexia2REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0033204Triceps hyperreflexia2REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0033206Hyperactive Achilles reflex2REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0007083Hyperactive patellar reflex2REEP2 CL E G H51308615625Spastic paraplegia 72, autosomal recessive615625C3810160OMIM111817975609347
HP:0001347HP:0011448Ankle clonus2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0011728Elbow clonus2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0011449Knee clonus2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0033205Biceps hyperreflexia2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0033203Brachioradialis hyperreflexia2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0033204Triceps hyperreflexia2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0033206Hyperactive Achilles reflex2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0007083Hyperactive patellar reflex2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA12009970600404
HP:0001347HP:0011448Ankle clonus2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0011728Elbow clonus2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0011449Knee clonus2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0033205Biceps hyperreflexia2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0033203Brachioradialis hyperreflexia2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0033204Triceps hyperreflexia2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0033206Hyperactive Achilles reflex2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0007083Hyperactive patellar reflex2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM150530220611908
HP:0001347HP:0011448Ankle clonus2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0011728Elbow clonus2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0011449Knee clonus2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0033205Biceps hyperreflexia2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0033203Brachioradialis hyperreflexia2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0033204Triceps hyperreflexia2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0033206Hyperactive Achilles reflex2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0007083Hyperactive patellar reflex2RLIM CL E G H51132300978Mental retardation, X-linked 61300978C4283894OMIM122313429300379
HP:0001347HP:0011448Ankle clonus2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0011728Elbow clonus2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0011449Knee clonus2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0033205Biceps hyperreflexia2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0033203Brachioradialis hyperreflexia2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0033204Triceps hyperreflexia2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0033206Hyperactive Achilles reflex2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0007083Hyperactive patellar reflex2RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM130724116610330
HP:0001347HP:0011448Ankle clonus2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0011728Elbow clonus2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0011449Knee clonus2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0033205Biceps hyperreflexia2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0033203Brachioradialis hyperreflexia2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0033204Triceps hyperreflexia2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0033206Hyperactive Achilles reflex2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0007083Hyperactive patellar reflex2RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM1149429168610937
HP:0001347HP:0011448Ankle clonus2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0011728Elbow clonus2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0011449Knee clonus2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0033205Biceps hyperreflexia2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0033203Brachioradialis hyperreflexia2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0033204Triceps hyperreflexia2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0033206Hyperactive Achilles reflex2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0007083Hyperactive patellar reflex2RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA1149429168610937
HP:0001347HP:0011448Ankle clonus2RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0011728Elbow clonus2RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0011449Knee clonus2RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0033205Biceps hyperreflexia2RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0033203Brachioradialis hyperreflexia2RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0033204Triceps hyperreflexia2RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0033206Hyperactive Achilles reflex2RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0007083Hyperactive patellar reflex2RTN2 CL E G H6253604805Spastic paraplegia 12604805C1858106OMIM124510468603183
HP:0001347HP:0011448Ankle clonus2RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0011728Elbow clonus2RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0011449Knee clonus2RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0033205Biceps hyperreflexia2RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0033203Brachioradialis hyperreflexia2RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0033204Triceps hyperreflexia2RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0033206Hyperactive Achilles reflex2RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0007083Hyperactive patellar reflex2RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM116228991613516
HP:0001347HP:0011448Ankle clonus2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0011728Elbow clonus2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0011449Knee clonus2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0033205Biceps hyperreflexia2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0033203Brachioradialis hyperreflexia2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0033204Triceps hyperreflexia2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0033206Hyperactive Achilles reflex2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0007083Hyperactive patellar reflex2RUSC2 CL E G H9853617773MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61617773C4540424OMIM182423625611053
HP:0001347HP:0011448Ankle clonus2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0011728Elbow clonus2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0011449Knee clonus2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0033205Biceps hyperreflexia2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0033203Brachioradialis hyperreflexia2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0033204Triceps hyperreflexia2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0033206Hyperactive Achilles reflex2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0007083Hyperactive patellar reflex2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0001347HP:0011448Ankle clonus2SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0011728Elbow clonus2SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0011449Knee clonus2SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0033205Biceps hyperreflexia2SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0033203Brachioradialis hyperreflexia2SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0033204Triceps hyperreflexia2SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0033206Hyperactive Achilles reflex2SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0007083Hyperactive patellar reflex2SAMD9L CL E G H2192852585ORPHA17131349611170
HP:0001347HP:0011448Ankle clonus2SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0011728Elbow clonus2SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0011449Knee clonus2SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0033205Biceps hyperreflexia2SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0033203Brachioradialis hyperreflexia2SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0033204Triceps hyperreflexia2SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0033206Hyperactive Achilles reflex2SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0007083Hyperactive patellar reflex2SASS6 CL E G H1637862512ORPHA110225403609321
HP:0001347HP:0011448Ankle clonus2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0011728Elbow clonus2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0011449Knee clonus2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0033205Biceps hyperreflexia2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0033203Brachioradialis hyperreflexia2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0033204Triceps hyperreflexia2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0033206Hyperactive Achilles reflex2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0007083Hyperactive patellar reflex2SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001347HP:0011448Ankle clonus2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0011728Elbow clonus2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0011449Knee clonus2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0033205Biceps hyperreflexia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0033203Brachioradialis hyperreflexia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0033204Triceps hyperreflexia2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0033206Hyperactive Achilles reflex2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0007083Hyperactive patellar reflex2SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM1250310680600857
HP:0001347HP:0011448Ankle clonus2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0011728Elbow clonus2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0011449Knee clonus2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0033205Biceps hyperreflexia2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0033203Brachioradialis hyperreflexia2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0033204Triceps hyperreflexia2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0033206Hyperactive Achilles reflex2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0007083Hyperactive patellar reflex2SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001347HP:0011448Ankle clonus2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0011728Elbow clonus2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0011449Knee clonus2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0033205Biceps hyperreflexia2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0033203Brachioradialis hyperreflexia2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0033204Triceps hyperreflexia2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0033206Hyperactive Achilles reflex2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0007083Hyperactive patellar reflex2SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001347HP:0011448Ankle clonus2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0011728Elbow clonus2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0011449Knee clonus2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0033205Biceps hyperreflexia2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0033203Brachioradialis hyperreflexia2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0033204Triceps hyperreflexia2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0033206Hyperactive Achilles reflex2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0007083Hyperactive patellar reflex2SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001347HP:0011448Ankle clonus2SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0011728Elbow clonus2SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0011449Knee clonus2SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0033205Biceps hyperreflexia2SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0033203Brachioradialis hyperreflexia2SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0033204Triceps hyperreflexia2SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0033206Hyperactive Achilles reflex2SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0007083Hyperactive patellar reflex2SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0001347HP:0011448Ankle clonus2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0011728Elbow clonus2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0011449Knee clonus2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0033205Biceps hyperreflexia2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0033203Brachioradialis hyperreflexia2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0033204Triceps hyperreflexia2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0033206Hyperactive Achilles reflex2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0007083Hyperactive patellar reflex2SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM12478157601978
HP:0001347HP:0011448Ankle clonus2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0011728Elbow clonus2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0011449Knee clonus2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0033205Biceps hyperreflexia2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0033203Brachioradialis hyperreflexia2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0033204Triceps hyperreflexia2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0033206Hyperactive Achilles reflex2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0007083Hyperactive patellar reflex2SIGMAR1 CL E G H10280300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA12478157601978
HP:0001347HP:0011448Ankle clonus2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0011728Elbow clonus2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0011449Knee clonus2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0033205Biceps hyperreflexia2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0033203Brachioradialis hyperreflexia2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0033204Triceps hyperreflexia2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0033206Hyperactive Achilles reflex2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0007083Hyperactive patellar reflex2SIK1 CL E G H1500941935ORPHA190911142605705
HP:0001347HP:0011448Ankle clonus2SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0011728Elbow clonus2SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0011449Knee clonus2SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0033205Biceps hyperreflexia2SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0033204Triceps hyperreflexia2SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0007083Hyperactive patellar reflex2SLC16A2 CL E G H656759ORPHA142710923300095
HP:0001347HP:0011448Ankle clonus2SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0011728Elbow clonus2SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0011449Knee clonus2SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0033205Biceps hyperreflexia2SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0033204Triceps hyperreflexia2SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0007083Hyperactive patellar reflex2SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM142710923300095
HP:0001347HP:0011448Ankle clonus2SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0011728Elbow clonus2SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0011449Knee clonus2SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0033205Biceps hyperreflexia2SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0033204Triceps hyperreflexia2SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0007083Hyperactive patellar reflex2SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM118310935193001
HP:0001347HP:0011448Ankle clonus2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0011728Elbow clonus2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0011449Knee clonus2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0033205Biceps hyperreflexia2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0033204Triceps hyperreflexia2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0007083Hyperactive patellar reflex2SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001347HP:0011448Ankle clonus2SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0011728Elbow clonus2SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0011449Knee clonus2SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0033205Biceps hyperreflexia2SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0033204Triceps hyperreflexia2SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0007083Hyperactive patellar reflex2SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM120810942600229
HP:0001347HP:0011448Ankle clonus2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0011728Elbow clonus2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0011449Knee clonus2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0033205Biceps hyperreflexia2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0033204Triceps hyperreflexia2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0007083Hyperactive patellar reflex2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001347HP:0011448Ankle clonus2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0011728Elbow clonus2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0011449Knee clonus2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0033205Biceps hyperreflexia2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0033204Triceps hyperreflexia2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0007083Hyperactive patellar reflex2SLC25A12 CL E G H8604612949Hypomyelination, global cerebral612949C2751855OMIM145110982603667
HP:0001347HP:0011448Ankle clonus2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0011728Elbow clonus2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0011449Knee clonus2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0033205Biceps hyperreflexia2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0033204Triceps hyperreflexia2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0007083Hyperactive patellar reflex2SLC25A22 CL E G H797511935ORPHA155119954609302
HP:0001347HP:0011448Ankle clonus2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0011728Elbow clonus2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0011449Knee clonus2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0033205Biceps hyperreflexia2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0033204Triceps hyperreflexia2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0007083Hyperactive patellar reflex2SLC2A1 CL E G H651353583ORPHA196511005138140
HP:0001347HP:0011448Ankle clonus2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0011728Elbow clonus2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0011449Knee clonus2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0033205Biceps hyperreflexia2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0033204Triceps hyperreflexia2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0007083Hyperactive patellar reflex2SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM196511005138140
HP:0001347HP:0011448Ankle clonus2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0011728Elbow clonus2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0011449Knee clonus2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0033205Biceps hyperreflexia2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0033204Triceps hyperreflexia2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0007083Hyperactive patellar reflex2SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM196511005138140
HP:0001347HP:0011448Ankle clonus2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0011728Elbow clonus2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0011449Knee clonus2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0033205Biceps hyperreflexia2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0033204Triceps hyperreflexia2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0007083Hyperactive patellar reflex2SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM196511005138140
HP:0001347HP:0011448Ankle clonus2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0011728Elbow clonus2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0011449Knee clonus2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0033205Biceps hyperreflexia2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0033204Triceps hyperreflexia2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0007083Hyperactive patellar reflex2SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA152327960608893
HP:0001347HP:0011448Ankle clonus2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0011728Elbow clonus2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0011449Knee clonus2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0033205Biceps hyperreflexia2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0033204Triceps hyperreflexia2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0007083Hyperactive patellar reflex2SLC6A19 CL E G H340024234500Neutral 1 amino acid transport defect234500C0018609OMIM152327960608893
HP:0001347HP:0011448Ankle clonus2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0011728Elbow clonus2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0011449Knee clonus2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0033205Biceps hyperreflexia2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0033204Triceps hyperreflexia2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0007083Hyperactive patellar reflex2SLC6A5 CL E G H91523197Lateral body wall defectORPHA171811051604159
HP:0001347HP:0011448Ankle clonus2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0011728Elbow clonus2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0011449Knee clonus2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0033205Biceps hyperreflexia2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0033203Brachioradialis hyperreflexia2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0033204Triceps hyperreflexia2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0033206Hyperactive Achilles reflex2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0007083Hyperactive patellar reflex2SNCA CL E G H6622171695ORPHA119311138163890
HP:0001347HP:0011448Ankle clonus2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0011728Elbow clonus2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0011449Knee clonus2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0033205Biceps hyperreflexia2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0033203Brachioradialis hyperreflexia2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0033204Triceps hyperreflexia2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0033206Hyperactive Achilles reflex2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0007083Hyperactive patellar reflex2SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM129411179147450
HP:0001347HP:0011448Ankle clonus2SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0011728Elbow clonus2SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0011449Knee clonus2SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0033205Biceps hyperreflexia2SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0033204Triceps hyperreflexia2SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0033206Hyperactive Achilles reflex2SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0007083Hyperactive patellar reflex2SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM135318514607111
HP:0001347HP:0011448Ankle clonus2SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0011728Elbow clonus2SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0011449Knee clonus2SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0033205Biceps hyperreflexia2SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0033204Triceps hyperreflexia2SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0033206Hyperactive Achilles reflex2SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0007083Hyperactive patellar reflex2SPAST CL E G H6683182601Spastic paraplegia 4, autosomal dominant182601C1866855OMIM1121511233604277
HP:0001347HP:0011448Ankle clonus2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0011728Elbow clonus2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0011449Knee clonus2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0033205Biceps hyperreflexia2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0033204Triceps hyperreflexia2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0033206Hyperactive Achilles reflex2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0007083Hyperactive patellar reflex2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0001347HP:0011448Ankle clonus2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0011728Elbow clonus2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0011449Knee clonus2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0033205Biceps hyperreflexia2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0033204Triceps hyperreflexia2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0033206Hyperactive Achilles reflex2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0007083Hyperactive patellar reflex2SPG11 CL E G H80208300605Juvenile amyotrophic lateral sclerosisCN239582ORPHA1262511226610844
HP:0001347HP:0011448Ankle clonus2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0011728Elbow clonus2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0011449Knee clonus2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0033205Biceps hyperreflexia2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0033204Triceps hyperreflexia2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0033206Hyperactive Achilles reflex2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0007083Hyperactive patellar reflex2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001347HP:0011448Ankle clonus2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0011728Elbow clonus2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0011449Knee clonus2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0033205Biceps hyperreflexia2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0033204Triceps hyperreflexia2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0033206Hyperactive Achilles reflex2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0007083Hyperactive patellar reflex2SPG21 CL E G H51324101001ORPHA116220373608181
HP:0001347HP:0011448Ankle clonus2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0011728Elbow clonus2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0011449Knee clonus2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0033205Biceps hyperreflexia2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0033204Triceps hyperreflexia2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0033206Hyperactive Achilles reflex2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0007083Hyperactive patellar reflex2SPG21 CL E G H51324248900Mast syndrome248900C1855346OMIM116220373608181
HP:0001347HP:0011448Ankle clonus2SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0011728Elbow clonus2SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0011449Knee clonus2SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0033205Biceps hyperreflexia2SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0033204Triceps hyperreflexia2SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0033206Hyperactive Achilles reflex2SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0007083Hyperactive patellar reflex2SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM196611237602783
HP:0001347HP:0011448Ankle clonus2SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0011728Elbow clonus2SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0011449Knee clonus2SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0033205Biceps hyperreflexia2SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0033204Triceps hyperreflexia2SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0033206Hyperactive Achilles reflex2SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0007083Hyperactive patellar reflex2SPR CL E G H669770594ORPHA119811257182125
HP:0001347HP:0011448Ankle clonus2SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0011728Elbow clonus2SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0011449Knee clonus2SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0033205Biceps hyperreflexia2SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0033204Triceps hyperreflexia2SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0033206Hyperactive Achilles reflex2SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0007083Hyperactive patellar reflex2SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1226711273182810
HP:0001347HP:0011448Ankle clonus2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0011728Elbow clonus2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0011449Knee clonus2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0033205Biceps hyperreflexia2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0033204Triceps hyperreflexia2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0033206Hyperactive Achilles reflex2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0007083Hyperactive patellar reflex2SPTBN2 CL E G H6712352403ORPHA193811276604985
HP:0001347HP:0011448Ankle clonus2SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0011728Elbow clonus2SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0011449Knee clonus2SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0033205Biceps hyperreflexia2SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0033204Triceps hyperreflexia2SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0033206Hyperactive Achilles reflex2SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0007083Hyperactive patellar reflex2SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM193811276604985
HP:0001347HP:0011448Ankle clonus2SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0011728Elbow clonus2SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0011449Knee clonus2SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0033205Biceps hyperreflexia2SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0033203Brachioradialis hyperreflexia2SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0033204Triceps hyperreflexia2SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0033206Hyperactive Achilles reflex2SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0007083Hyperactive patellar reflex2SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM167711280601530
HP:0001347HP:0011448Ankle clonus2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0011728Elbow clonus2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0011449Knee clonus2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0033205Biceps hyperreflexia2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0033203Brachioradialis hyperreflexia2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0033204Triceps hyperreflexia2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0033206Hyperactive Achilles reflex2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0007083Hyperactive patellar reflex2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001347HP:0011448Ankle clonus2STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0011728Elbow clonus2STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0011449Knee clonus2STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0033205Biceps hyperreflexia2STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0033203Brachioradialis hyperreflexia2STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0033204Triceps hyperreflexia2STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0033206Hyperactive Achilles reflex2STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0007083Hyperactive patellar reflex2STIL CL E G H64912512ORPHA135010879181590
HP:0001347HP:0011448Ankle clonus2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0011728Elbow clonus2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0011449Knee clonus2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0033205Biceps hyperreflexia2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0033203Brachioradialis hyperreflexia2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0033204Triceps hyperreflexia2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0033206Hyperactive Achilles reflex2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0007083Hyperactive patellar reflex2SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001347HP:0011448Ankle clonus2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0011728Elbow clonus2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0011449Knee clonus2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0033205Biceps hyperreflexia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0033203Brachioradialis hyperreflexia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0033204Triceps hyperreflexia2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0033206Hyperactive Achilles reflex2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0007083Hyperactive patellar reflex2SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM153211474185620
HP:0001347HP:0011448Ankle clonus2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0011728Elbow clonus2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0011449Knee clonus2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0033205Biceps hyperreflexia2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0033203Brachioradialis hyperreflexia2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0033204Triceps hyperreflexia2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0033206Hyperactive Achilles reflex2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0007083Hyperactive patellar reflex2TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001347HP:0011448Ankle clonus2TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0011728Elbow clonus2TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0011449Knee clonus2TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0033205Biceps hyperreflexia2TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0033203Brachioradialis hyperreflexia2TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0033204Triceps hyperreflexia2TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0033206Hyperactive Achilles reflex2TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0007083Hyperactive patellar reflex2TAF13 CL E G H68842512ORPHA14211546600774
HP:0001347HP:0011448Ankle clonus2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0011728Elbow clonus2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0011449Knee clonus2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0033205Biceps hyperreflexia2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0033203Brachioradialis hyperreflexia2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0033204Triceps hyperreflexia2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0033206Hyperactive Achilles reflex2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0007083Hyperactive patellar reflex2TAF2 CL E G H6873615599Mental retardation, autosomal recessive 40615599C3810080OMIM127111536604912
HP:0001347HP:0011448Ankle clonus2TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0011728Elbow clonus2TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0011449Knee clonus2TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0033205Biceps hyperreflexia2TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0033203Brachioradialis hyperreflexia2TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0033204Triceps hyperreflexia2TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0033206Hyperactive Achilles reflex2TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0007083Hyperactive patellar reflex2TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM138211584604834
HP:0001347HP:0011448Ankle clonus2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0011728Elbow clonus2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0011449Knee clonus2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0033205Biceps hyperreflexia2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0033203Brachioradialis hyperreflexia2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0033204Triceps hyperreflexia2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0033206Hyperactive Achilles reflex2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0007083Hyperactive patellar reflex2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA119411586605842
HP:0001347HP:0011448Ankle clonus2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0011728Elbow clonus2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0011449Knee clonus2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0033205Biceps hyperreflexia2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0033203Brachioradialis hyperreflexia2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0033204Triceps hyperreflexia2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0033206Hyperactive Achilles reflex2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0007083Hyperactive patellar reflex2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM162225774613846
HP:0001347HP:0011448Ankle clonus2TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0011728Elbow clonus2TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0011449Knee clonus2TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0033205Biceps hyperreflexia2TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0033203Brachioradialis hyperreflexia2TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0033204Triceps hyperreflexia2TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0033206Hyperactive Achilles reflex2TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0007083Hyperactive patellar reflex2TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM137311758602498
HP:0001347HP:0011448Ankle clonus2TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0011728Elbow clonus2TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0011449Knee clonus2TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0033205Biceps hyperreflexia2TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0033203Brachioradialis hyperreflexia2TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0033204Triceps hyperreflexia2TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0033206Hyperactive Achilles reflex2TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0007083Hyperactive patellar reflex2TGM6 CL E G H343641276193ORPHA139316255613900
HP:0001347HP:0011448Ankle clonus2TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0011728Elbow clonus2TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0011449Knee clonus2TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0033205Biceps hyperreflexia2TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0033203Brachioradialis hyperreflexia2TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0033204Triceps hyperreflexia2TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0033206Hyperactive Achilles reflex2TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0007083Hyperactive patellar reflex2TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM139316255613900
HP:0001347HP:0011448Ankle clonus2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0011728Elbow clonus2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0011449Knee clonus2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0033205Biceps hyperreflexia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0033203Brachioradialis hyperreflexia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0033204Triceps hyperreflexia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0033206Hyperactive Achilles reflex2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0007083Hyperactive patellar reflex2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001347HP:0011448Ankle clonus2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0011728Elbow clonus2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0011449Knee clonus2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0033205Biceps hyperreflexia2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0033203Brachioradialis hyperreflexia2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0033204Triceps hyperreflexia2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0033206Hyperactive Achilles reflex2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0007083Hyperactive patellar reflex2TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM112822407613413
HP:0001347HP:0011448Ankle clonus2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0011728Elbow clonus2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0011449Knee clonus2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0033205Biceps hyperreflexia2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0033203Brachioradialis hyperreflexia2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0033204Triceps hyperreflexia2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0033206Hyperactive Achilles reflex2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0007083Hyperactive patellar reflex2TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM192828396609884
HP:0001347HP:0011448Ankle clonus2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0011728Elbow clonus2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0011449Knee clonus2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0033205Biceps hyperreflexia2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0033203Brachioradialis hyperreflexia2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0033204Triceps hyperreflexia2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0033206Hyperactive Achilles reflex2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0007083Hyperactive patellar reflex2TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA192828396609884
HP:0001347HP:0011448Ankle clonus2TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0011728Elbow clonus2TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0011449Knee clonus2TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0033205Biceps hyperreflexia2TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0033203Brachioradialis hyperreflexia2TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0033204Triceps hyperreflexia2TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0033206Hyperactive Achilles reflex2TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0007083Hyperactive patellar reflex2TOE1 CL E G H114034614969Pontocerebellar hypoplasia, type 7614969C3554226OMIM127215954613931
HP:0001347HP:0011448Ankle clonus2TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0011728Elbow clonus2TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0011449Knee clonus2TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0033205Biceps hyperreflexia2TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0033203Brachioradialis hyperreflexia2TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0033204Triceps hyperreflexia2TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0033206Hyperactive Achilles reflex2TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0007083Hyperactive patellar reflex2TPP1 CL E G H1200284324ORPHA110232073607998
HP:0001347HP:0011448Ankle clonus2TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0011728Elbow clonus2TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0011449Knee clonus2TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0033205Biceps hyperreflexia2TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0033203Brachioradialis hyperreflexia2TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0033204Triceps hyperreflexia2TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0033206Hyperactive Achilles reflex2TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0007083Hyperactive patellar reflex2TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM110232073607998
HP:0001347HP:0011448Ankle clonus2TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0011728Elbow clonus2TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0011449Knee clonus2TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0033205Biceps hyperreflexia2TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0033203Brachioradialis hyperreflexia2TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0033204Triceps hyperreflexia2TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0033206Hyperactive Achilles reflex2TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0007083Hyperactive patellar reflex2TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM17523066610397
HP:0001347HP:0011448Ankle clonus2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0011728Elbow clonus2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0011449Knee clonus2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0033205Biceps hyperreflexia2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0033203Brachioradialis hyperreflexia2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0033204Triceps hyperreflexia2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0033206Hyperactive Achilles reflex2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0007083Hyperactive patellar reflex2TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM122023141611023
HP:0001347HP:0011448Ankle clonus2TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0011728Elbow clonus2TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0011449Knee clonus2TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0033205Biceps hyperreflexia2TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0033203Brachioradialis hyperreflexia2TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0033204Triceps hyperreflexia2TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0033206Hyperactive Achilles reflex2TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0007083Hyperactive patellar reflex2TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM133819141611695
HP:0001347HP:0011448Ankle clonus2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0011728Elbow clonus2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0011449Knee clonus2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0033205Biceps hyperreflexia2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0033203Brachioradialis hyperreflexia2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0033204Triceps hyperreflexia2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0033206Hyperactive Achilles reflex2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0007083Hyperactive patellar reflex2TUBB2B CL E G H3477331766ORPHA120430829612850
HP:0001347HP:0011448Ankle clonus2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0011728Elbow clonus2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0011449Knee clonus2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0033205Biceps hyperreflexia2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0033203Brachioradialis hyperreflexia2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0033204Triceps hyperreflexia2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0033206Hyperactive Achilles reflex2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0007083Hyperactive patellar reflex2UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM1110812496601623
HP:0001347HP:0011448Ankle clonus2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0011728Elbow clonus2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0011449Knee clonus2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0033205Biceps hyperreflexia2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0033203Brachioradialis hyperreflexia2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0033204Triceps hyperreflexia2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0033206Hyperactive Achilles reflex2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0007083Hyperactive patellar reflex2UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM110229594612080
HP:0001347HP:0011448Ankle clonus2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0011728Elbow clonus2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0011449Knee clonus2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0033205Biceps hyperreflexia2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0033203Brachioradialis hyperreflexia2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0033204Triceps hyperreflexia2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0033206Hyperactive Achilles reflex2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0007083Hyperactive patellar reflex2VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM136725507604632
HP:0001347HP:0011448Ankle clonus2VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0011728Elbow clonus2VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0011449Knee clonus2VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0033205Biceps hyperreflexia2VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0033203Brachioradialis hyperreflexia2VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0033204Triceps hyperreflexia2VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0033206Hyperactive Achilles reflex2VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0007083Hyperactive patellar reflex2VAMP1 CL E G H6843251282ORPHA114112642185880
HP:0001347HP:0011448Ankle clonus2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0011728Elbow clonus2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0011449Knee clonus2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0033205Biceps hyperreflexia2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0033203Brachioradialis hyperreflexia2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0033204Triceps hyperreflexia2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0033206Hyperactive Achilles reflex2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0007083Hyperactive patellar reflex2VAMP1 CL E G H6843108600Ataxia, spastic, 1, autosomal dominant108600C1970107OMIM114112642185880
HP:0001347HP:0011448Ankle clonus2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0011728Elbow clonus2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0011449Knee clonus2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0033205Biceps hyperreflexia2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0033203Brachioradialis hyperreflexia2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0033204Triceps hyperreflexia2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0033206Hyperactive Achilles reflex2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0007083Hyperactive patellar reflex2VLDLR CL E G H74361766ORPHA157512698192977
HP:0001347HP:0011448Ankle clonus2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0011728Elbow clonus2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0011449Knee clonus2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0033205Biceps hyperreflexia2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0033203Brachioradialis hyperreflexia2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0033204Triceps hyperreflexia2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0033206Hyperactive Achilles reflex2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0007083Hyperactive patellar reflex2VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM157512698192977
HP:0001347HP:0011448Ankle clonus2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0011728Elbow clonus2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0011449Knee clonus2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0033205Biceps hyperreflexia2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0033203Brachioradialis hyperreflexia2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0033204Triceps hyperreflexia2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0033206Hyperactive Achilles reflex2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0007083Hyperactive patellar reflex2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0001347HP:0011448Ankle clonus2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0011728Elbow clonus2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0011449Knee clonus2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0033205Biceps hyperreflexia2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0033203Brachioradialis hyperreflexia2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0033204Triceps hyperreflexia2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0033206Hyperactive Achilles reflex2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0007083Hyperactive patellar reflex2VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM146112718602168
HP:0001347HP:0011448Ankle clonus2VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0011728Elbow clonus2VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0011449Knee clonus2VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0033205Biceps hyperreflexia2VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0033203Brachioradialis hyperreflexia2VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0033204Triceps hyperreflexia2VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0033206Hyperactive Achilles reflex2VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0007083Hyperactive patellar reflex2VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM112628385614884
HP:0001347HP:0011448Ankle clonus2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0011728Elbow clonus2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0011449Knee clonus2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0033205Biceps hyperreflexia2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0033203Brachioradialis hyperreflexia2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0033204Triceps hyperreflexia2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0033206Hyperactive Achilles reflex2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0007083Hyperactive patellar reflex2WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM114412730604733
HP:0001347HP:0011448Ankle clonus2WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0011728Elbow clonus2WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0011449Knee clonus2WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0033205Biceps hyperreflexia2WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0033203Brachioradialis hyperreflexia2WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0033204Triceps hyperreflexia2WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0033206Hyperactive Achilles reflex2WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0007083Hyperactive patellar reflex2WASHC5 CL E G H9897603563Spastic paraplegia 8603563C1863704OMIM163828984610657
HP:0001347HP:0011448Ankle clonus2WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0011728Elbow clonus2WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0011449Knee clonus2WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0033205Biceps hyperreflexia2WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0033203Brachioradialis hyperreflexia2WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0033204Triceps hyperreflexia2WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0033206Hyperactive Achilles reflex2WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0007083Hyperactive patellar reflex2WDR62 CL E G H2844032512ORPHA186424502613583
HP:0001347HP:0011448Ankle clonus2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0011728Elbow clonus2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0011449Knee clonus2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0033205Biceps hyperreflexia2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0033203Brachioradialis hyperreflexia2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0033204Triceps hyperreflexia2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0033206Hyperactive Achilles reflex2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0007083Hyperactive patellar reflex2WDR62 CL E G H284403604317Primary autosomal recessive microcephaly 2604317C1858535OMIM186424502613583
HP:0001347HP:0011448Ankle clonus2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0011728Elbow clonus2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0011449Knee clonus2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0033205Biceps hyperreflexia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0033203Brachioradialis hyperreflexia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0033204Triceps hyperreflexia2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0033206Hyperactive Achilles reflex2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0007083Hyperactive patellar reflex2WDR73 CL E G H84942251300Galloway-Mowat syndrome 1251300CN031715OMIM122025928616144
HP:0001347HP:0011448Ankle clonus2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0011728Elbow clonus2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0011449Knee clonus2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0033205Biceps hyperreflexia2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0033203Brachioradialis hyperreflexia2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0033204Triceps hyperreflexia2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0033206Hyperactive Achilles reflex2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0007083Hyperactive patellar reflex2WDR81 CL E G H1249971766ORPHA142026600614218
HP:0001347HP:0011448Ankle clonus2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0011728Elbow clonus2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0011449Knee clonus2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0033205Biceps hyperreflexia2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0033203Brachioradialis hyperreflexia2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0033204Triceps hyperreflexia2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0033206Hyperactive Achilles reflex2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0007083Hyperactive patellar reflex2WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM1110212799605131
HP:0001347HP:0011448Ankle clonus2ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0011728Elbow clonus2ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0011449Knee clonus2ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0033205Biceps hyperreflexia2ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0033203Brachioradialis hyperreflexia2ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0033204Triceps hyperreflexia2ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0033206Hyperactive Achilles reflex2ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0007083Hyperactive patellar reflex2ZFR CL E G H51663401840ORPHA117517277615635
HP:0001347HP:0011448Ankle clonus2ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0011728Elbow clonus2ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0011449Knee clonus2ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0033205Biceps hyperreflexia2ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0033203Brachioradialis hyperreflexia2ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0033204Triceps hyperreflexia2ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0033206Hyperactive Achilles reflex2ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0007083Hyperactive patellar reflex2ZNHIT3 CL E G H93262836ORPHA113612309604500
HP:0001347HP:0011448Ankle clonus2ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0011728Elbow clonus2ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0011449Knee clonus2ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0033205Biceps hyperreflexia2ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0033203Brachioradialis hyperreflexia2ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0033204Triceps hyperreflexia2ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0033206Hyperactive Achilles reflex2ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
HP:0001347HP:0007083Hyperactive patellar reflex2ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM113612309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001347HP:0001347Hyperreflexia0AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0001347Hyperreflexia0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0001347Hyperreflexia0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0001347Hyperreflexia0ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0001347Hyperreflexia0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0001347Hyperreflexia0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0001347Hyperreflexia0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0001347Hyperreflexia0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0001347Hyperreflexia0APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0001347Hyperreflexia0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0001347Hyperreflexia0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0001347Hyperreflexia0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0001347Hyperreflexia0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0001347Hyperreflexia0ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0001347Hyperreflexia0ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0001347Hyperreflexia0ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0001347Hyperreflexia0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0001347Hyperreflexia0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0001347Hyperreflexia0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0001347Hyperreflexia0BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0001347Hyperreflexia0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0001347Hyperreflexia0BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0001347Hyperreflexia0BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0001347Hyperreflexia0BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0001347Hyperreflexia0BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0001347Hyperreflexia0C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0001347Hyperreflexia0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0001347Hyperreflexia0C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0001347Hyperreflexia0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0001347Hyperreflexia0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0001347Hyperreflexia0CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0001347Hyperreflexia0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0001347Hyperreflexia0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0001347Hyperreflexia0CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0001347Hyperreflexia0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0001347Hyperreflexia0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0001347Hyperreflexia0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0001347Hyperreflexia0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0001347Hyperreflexia0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0001347Hyperreflexia0DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0001347Hyperreflexia0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0001347Hyperreflexia0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0001347Hyperreflexia0DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0001347Hyperreflexia0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0001347Hyperreflexia0ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0001347Hyperreflexia0ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0001347Hyperreflexia0ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0001347Hyperreflexia0ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0001347Hyperreflexia0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0001347Hyperreflexia0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0001347Hyperreflexia0FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0001347Hyperreflexia0FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0001347Hyperreflexia0FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0001347Hyperreflexia0FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0001347Hyperreflexia0FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0001347Hyperreflexia0FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0001347Hyperreflexia0FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0001347Hyperreflexia0FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0001347Hyperreflexia0FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0001347Hyperreflexia0FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0001347Hyperreflexia0FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0001347Hyperreflexia0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0001347Hyperreflexia0GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0001347Hyperreflexia0GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0001347Hyperreflexia0GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0001347Hyperreflexia0GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0001347Hyperreflexia0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0001347Hyperreflexia0GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0001347Hyperreflexia0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0001347Hyperreflexia0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0001347Hyperreflexia0HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0001347Hyperreflexia0HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0001347Hyperreflexia0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0001347Hyperreflexia0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0001347Hyperreflexia0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0001347Hyperreflexia0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0001347Hyperreflexia0IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0001347Hyperreflexia0IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0001347Hyperreflexia0IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0001347Hyperreflexia0IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0001347Hyperreflexia0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0001347Hyperreflexia0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0001347Hyperreflexia0JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0001347Hyperreflexia0KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0001347Hyperreflexia0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0001347Hyperreflexia0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0001347Hyperreflexia0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0001347Hyperreflexia0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0001347Hyperreflexia0KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0001347Hyperreflexia0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0001347Hyperreflexia0MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0001347Hyperreflexia0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0001347Hyperreflexia0MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0001347Hyperreflexia0MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0001347Hyperreflexia0MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0001347Hyperreflexia0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0001347Hyperreflexia0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0001347Hyperreflexia0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0001347Hyperreflexia0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0001347Hyperreflexia0NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0001347Hyperreflexia0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0001347Hyperreflexia0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0001347Hyperreflexia0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0001347Hyperreflexia0NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0001347Hyperreflexia0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0001347Hyperreflexia0PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0001347Hyperreflexia0PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0001347Hyperreflexia0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0001347Hyperreflexia0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0001347Hyperreflexia0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0001347Hyperreflexia0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0001347Hyperreflexia0PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0001347Hyperreflexia0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0001347Hyperreflexia0PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0001347Hyperreflexia0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0001347Hyperreflexia0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0001347Hyperreflexia0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0001347Hyperreflexia0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0001347Hyperreflexia0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0001347Hyperreflexia0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0001347Hyperreflexia0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0001347Hyperreflexia0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0001347Hyperreflexia0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0001347Hyperreflexia0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0001347Hyperreflexia0PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0001347Hyperreflexia0QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0001347Hyperreflexia0RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0001347Hyperreflexia0RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0001347Hyperreflexia0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0001347Hyperreflexia0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0001347Hyperreflexia0REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0001347Hyperreflexia0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0001347Hyperreflexia0RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0001347Hyperreflexia0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0001347Hyperreflexia0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0001347Hyperreflexia0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0001347Hyperreflexia0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0001347Hyperreflexia0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0001347Hyperreflexia0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0001347Hyperreflexia0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0001347Hyperreflexia0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0001347Hyperreflexia0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0001347Hyperreflexia0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0001347Hyperreflexia0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0001347Hyperreflexia0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0001347Hyperreflexia0SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0001347Hyperreflexia0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0001347Hyperreflexia0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0001347Hyperreflexia0SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0001347Hyperreflexia0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0001347Hyperreflexia0SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0001347Hyperreflexia0SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0001347Hyperreflexia0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0001347Hyperreflexia0SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0001347Hyperreflexia0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0001347Hyperreflexia0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0001347Hyperreflexia0SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0001347Hyperreflexia0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0001347Hyperreflexia0SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0001347Hyperreflexia0STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0001347Hyperreflexia0TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0001347Hyperreflexia0TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0001347Hyperreflexia0TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0001347Hyperreflexia0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0001347Hyperreflexia0TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0001347Hyperreflexia0TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0001347Hyperreflexia0TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0001347Hyperreflexia0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0001347Hyperreflexia0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0001347Hyperreflexia0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0001347Hyperreflexia0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0001347Hyperreflexia0UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0001347Hyperreflexia0UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0001347Hyperreflexia0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0001347Hyperreflexia0VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0001347Hyperreflexia0VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0001347Hyperreflexia0XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0001347Hyperreflexia0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0001347Hyperreflexia0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0002169Clonus1AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0001348Brisk reflexes1AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0007034Generalized hyperreflexia1AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0007350Hyperreflexia in upper limbs1AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0007054Hyperreflexia proximally1AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0033683Jaw hyperreflexia1AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0002395Lower limb hyperreflexia1AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0002169Clonus1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0001348Brisk reflexes1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0007034Generalized hyperreflexia1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0007350Hyperreflexia in upper limbs1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0007054Hyperreflexia proximally1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0033683Jaw hyperreflexia1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0002395Lower limb hyperreflexia1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0002169Clonus1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0001348Brisk reflexes1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0007034Generalized hyperreflexia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0007350Hyperreflexia in upper limbs1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0007054Hyperreflexia proximally1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0033683Jaw hyperreflexia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0002395Lower limb hyperreflexia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0002169Clonus1ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0001348Brisk reflexes1ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0007034Generalized hyperreflexia1ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0007350Hyperreflexia in upper limbs1ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0007054Hyperreflexia proximally1ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0033683Jaw hyperreflexia1ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0002395Lower limb hyperreflexia1ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0002169Clonus1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0001348Brisk reflexes1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0007034Generalized hyperreflexia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0007350Hyperreflexia in upper limbs1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0007054Hyperreflexia proximally1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0033683Jaw hyperreflexia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0002395Lower limb hyperreflexia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0002169Clonus1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0001348Brisk reflexes1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0007034Generalized hyperreflexia1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0007350Hyperreflexia in upper limbs1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0007054Hyperreflexia proximally1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0033683Jaw hyperreflexia1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0002395Lower limb hyperreflexia1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0002169Clonus1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0001348Brisk reflexes1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0007034Generalized hyperreflexia1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0007350Hyperreflexia in upper limbs1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0007054Hyperreflexia proximally1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0033683Jaw hyperreflexia1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0002395Lower limb hyperreflexia1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0002169Clonus1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0001348Brisk reflexes1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0007034Generalized hyperreflexia1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0006801Hyperactive deep tendon reflexes1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0007350Hyperreflexia in upper limbs1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0007054Hyperreflexia proximally1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0033683Jaw hyperreflexia1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0002395Lower limb hyperreflexia1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0002169Clonus1APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0001348Brisk reflexes1APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0007034Generalized hyperreflexia1APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0006801Hyperactive deep tendon reflexes1APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0007350Hyperreflexia in upper limbs1APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0007054Hyperreflexia proximally1APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0033683Jaw hyperreflexia1APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0002395Lower limb hyperreflexia1APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0002169Clonus1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0001348Brisk reflexes1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0007034Generalized hyperreflexia1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0007350Hyperreflexia in upper limbs1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0007054Hyperreflexia proximally1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0033683Jaw hyperreflexia1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0002395Lower limb hyperreflexia1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0002169Clonus1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0001348Brisk reflexes1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0007034Generalized hyperreflexia1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0007350Hyperreflexia in upper limbs1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0007054Hyperreflexia proximally1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0033683Jaw hyperreflexia1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0002395Lower limb hyperreflexia1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0002169Clonus1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0001348Brisk reflexes1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0007034Generalized hyperreflexia1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0007350Hyperreflexia in upper limbs1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0007054Hyperreflexia proximally1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0033683Jaw hyperreflexia1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0002395Lower limb hyperreflexia1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0002169Clonus1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0001348Brisk reflexes1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0007034Generalized hyperreflexia1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0007350Hyperreflexia in upper limbs1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0007054Hyperreflexia proximally1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0033683Jaw hyperreflexia1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0002395Lower limb hyperreflexia1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0002169Clonus1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0001348Brisk reflexes1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0007034Generalized hyperreflexia1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0007054Hyperreflexia proximally1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0033683Jaw hyperreflexia1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0002395Lower limb hyperreflexia1ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0002169Clonus1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0001348Brisk reflexes1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0007034Generalized hyperreflexia1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0007054Hyperreflexia proximally1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0033683Jaw hyperreflexia1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0002395Lower limb hyperreflexia1ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0002169Clonus1ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0001348Brisk reflexes1ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0007034Generalized hyperreflexia1ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0007054Hyperreflexia proximally1ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0033683Jaw hyperreflexia1ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0002395Lower limb hyperreflexia1ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0002169Clonus1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0001348Brisk reflexes1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0007034Generalized hyperreflexia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0007350Hyperreflexia in upper limbs1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0007054Hyperreflexia proximally1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0033683Jaw hyperreflexia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0002395Lower limb hyperreflexia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0002169Clonus1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0001348Brisk reflexes1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0007034Generalized hyperreflexia1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0007350Hyperreflexia in upper limbs1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0007054Hyperreflexia proximally1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0033683Jaw hyperreflexia1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0002395Lower limb hyperreflexia1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0002169Clonus1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0001348Brisk reflexes1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0007034Generalized hyperreflexia1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0007350Hyperreflexia in upper limbs1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0007054Hyperreflexia proximally1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0033683Jaw hyperreflexia1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0002395Lower limb hyperreflexia1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0002169Clonus1BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0001348Brisk reflexes1BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0007034Generalized hyperreflexia1BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0007350Hyperreflexia in upper limbs1BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0007054Hyperreflexia proximally1BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0033683Jaw hyperreflexia1BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0002395Lower limb hyperreflexia1BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0002169Clonus1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0001348Brisk reflexes1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0007034Generalized hyperreflexia1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0007350Hyperreflexia in upper limbs1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0007054Hyperreflexia proximally1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0033683Jaw hyperreflexia1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0002395Lower limb hyperreflexia1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0002169Clonus1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0001348Brisk reflexes1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0007034Generalized hyperreflexia1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0007350Hyperreflexia in upper limbs1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0007054Hyperreflexia proximally1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0033683Jaw hyperreflexia1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0002395Lower limb hyperreflexia1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0002169Clonus1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0001348Brisk reflexes1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0007034Generalized hyperreflexia1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0007350Hyperreflexia in upper limbs1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0007054Hyperreflexia proximally1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0033683Jaw hyperreflexia1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0002395Lower limb hyperreflexia1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0002169Clonus1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0001348Brisk reflexes1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0007034Generalized hyperreflexia1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0007350Hyperreflexia in upper limbs1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0007054Hyperreflexia proximally1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0033683Jaw hyperreflexia1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0002395Lower limb hyperreflexia1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0002169Clonus1BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0001348Brisk reflexes1BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0007034Generalized hyperreflexia1BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0007350Hyperreflexia in upper limbs1BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0007054Hyperreflexia proximally1BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0033683Jaw hyperreflexia1BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0002395Lower limb hyperreflexia1BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0002169Clonus1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0001348Brisk reflexes1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0007034Generalized hyperreflexia1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0006801Hyperactive deep tendon reflexes1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0007350Hyperreflexia in upper limbs1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0007054Hyperreflexia proximally1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0033683Jaw hyperreflexia1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0002395Lower limb hyperreflexia1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0002169Clonus1C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0001348Brisk reflexes1C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0007034Generalized hyperreflexia1C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0006801Hyperactive deep tendon reflexes1C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0007350Hyperreflexia in upper limbs1C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0007054Hyperreflexia proximally1C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0033683Jaw hyperreflexia1C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0002395Lower limb hyperreflexia1C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0002169Clonus1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0001348Brisk reflexes1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0007034Generalized hyperreflexia1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0006801Hyperactive deep tendon reflexes1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0007350Hyperreflexia in upper limbs1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0007054Hyperreflexia proximally1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0033683Jaw hyperreflexia1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0002395Lower limb hyperreflexia1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0002169Clonus1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0001348Brisk reflexes1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0007034Generalized hyperreflexia1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0006801Hyperactive deep tendon reflexes1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0007350Hyperreflexia in upper limbs1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0007054Hyperreflexia proximally1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0033683Jaw hyperreflexia1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0002395Lower limb hyperreflexia1C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0002169Clonus1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0001348Brisk reflexes1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0007034Generalized hyperreflexia1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0007350Hyperreflexia in upper limbs1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0007054Hyperreflexia proximally1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0033683Jaw hyperreflexia1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0002395Lower limb hyperreflexia1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0002169Clonus1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0001348Brisk reflexes1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0007034Generalized hyperreflexia1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0007350Hyperreflexia in upper limbs1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0007054Hyperreflexia proximally1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0033683Jaw hyperreflexia1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0002395Lower limb hyperreflexia1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0002169Clonus1CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0001348Brisk reflexes1CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0007034Generalized hyperreflexia1CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0007350Hyperreflexia in upper limbs1CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0007054Hyperreflexia proximally1CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0033683Jaw hyperreflexia1CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0002395Lower limb hyperreflexia1CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0002169Clonus1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0001348Brisk reflexes1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0007034Generalized hyperreflexia1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0007350Hyperreflexia in upper limbs1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0007054Hyperreflexia proximally1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0033683Jaw hyperreflexia1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0002395Lower limb hyperreflexia1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0002169Clonus1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0001348Brisk reflexes1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0007034Generalized hyperreflexia1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0007350Hyperreflexia in upper limbs1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0007054Hyperreflexia proximally1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0033683Jaw hyperreflexia1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0002395Lower limb hyperreflexia1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0002169Clonus1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0001348Brisk reflexes1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0007034Generalized hyperreflexia1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0007350Hyperreflexia in upper limbs1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0007054Hyperreflexia proximally1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0033683Jaw hyperreflexia1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0002395Lower limb hyperreflexia1CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0002169Clonus1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0001348Brisk reflexes1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0007034Generalized hyperreflexia1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0007350Hyperreflexia in upper limbs1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0007054Hyperreflexia proximally1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0033683Jaw hyperreflexia1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0002395Lower limb hyperreflexia1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0002169Clonus1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0001348Brisk reflexes1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0007034Generalized hyperreflexia1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0007350Hyperreflexia in upper limbs1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0007054Hyperreflexia proximally1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0033683Jaw hyperreflexia1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0002395Lower limb hyperreflexia1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0002169Clonus1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0001348Brisk reflexes1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0007034Generalized hyperreflexia1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0007350Hyperreflexia in upper limbs1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0007054Hyperreflexia proximally1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0033683Jaw hyperreflexia1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0002395Lower limb hyperreflexia1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0002169Clonus1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0001348Brisk reflexes1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0007034Generalized hyperreflexia1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0007350Hyperreflexia in upper limbs1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0007054Hyperreflexia proximally1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0033683Jaw hyperreflexia1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0002395Lower limb hyperreflexia1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0002169Clonus1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0001348Brisk reflexes1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0007034Generalized hyperreflexia1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0006801Hyperactive deep tendon reflexes1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0007350Hyperreflexia in upper limbs1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0007054Hyperreflexia proximally1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0033683Jaw hyperreflexia1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0002395Lower limb hyperreflexia1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0002169Clonus1DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0001348Brisk reflexes1DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0007034Generalized hyperreflexia1DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0007350Hyperreflexia in upper limbs1DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0007054Hyperreflexia proximally1DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0033683Jaw hyperreflexia1DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0002395Lower limb hyperreflexia1DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0002169Clonus1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0001348Brisk reflexes1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0007034Generalized hyperreflexia1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0007350Hyperreflexia in upper limbs1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0007054Hyperreflexia proximally1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0033683Jaw hyperreflexia1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0002395Lower limb hyperreflexia1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0002169Clonus1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0001348Brisk reflexes1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0007034Generalized hyperreflexia1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0007350Hyperreflexia in upper limbs1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0007054Hyperreflexia proximally1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0033683Jaw hyperreflexia1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0002395Lower limb hyperreflexia1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0002169Clonus1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0001348Brisk reflexes1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0007034Generalized hyperreflexia1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0006801Hyperactive deep tendon reflexes1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0007350Hyperreflexia in upper limbs1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0007054Hyperreflexia proximally1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0033683Jaw hyperreflexia1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0002395Lower limb hyperreflexia1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0002169Clonus1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0001348Brisk reflexes1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0007034Generalized hyperreflexia1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0006801Hyperactive deep tendon reflexes1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0007350Hyperreflexia in upper limbs1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0007054Hyperreflexia proximally1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0033683Jaw hyperreflexia1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0002395Lower limb hyperreflexia1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0002169Clonus1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0001348Brisk reflexes1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0007034Generalized hyperreflexia1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0007350Hyperreflexia in upper limbs1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0007054Hyperreflexia proximally1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0033683Jaw hyperreflexia1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0002395Lower limb hyperreflexia1ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0002169Clonus1ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0001348Brisk reflexes1ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0007034Generalized hyperreflexia1ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0007350Hyperreflexia in upper limbs1ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0007054Hyperreflexia proximally1ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0033683Jaw hyperreflexia1ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0002395Lower limb hyperreflexia1ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0002169Clonus1ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0001348Brisk reflexes1ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0007034Generalized hyperreflexia1ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0007350Hyperreflexia in upper limbs1ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0007054Hyperreflexia proximally1ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0033683Jaw hyperreflexia1ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0002395Lower limb hyperreflexia1ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0002169Clonus1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0001348Brisk reflexes1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0007034Generalized hyperreflexia1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0007350Hyperreflexia in upper limbs1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0007054Hyperreflexia proximally1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0033683Jaw hyperreflexia1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0002395Lower limb hyperreflexia1ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0002169Clonus1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0001348Brisk reflexes1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0007034Generalized hyperreflexia1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0006801Hyperactive deep tendon reflexes1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0007350Hyperreflexia in upper limbs1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0007054Hyperreflexia proximally1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0033683Jaw hyperreflexia1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0002395Lower limb hyperreflexia1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0002169Clonus1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0001348Brisk reflexes1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0007034Generalized hyperreflexia1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0007350Hyperreflexia in upper limbs1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0007054Hyperreflexia proximally1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0033683Jaw hyperreflexia1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0002395Lower limb hyperreflexia1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0002169Clonus1FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0001348Brisk reflexes1FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0007034Generalized hyperreflexia1FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0007350Hyperreflexia in upper limbs1FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0007054Hyperreflexia proximally1FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0033683Jaw hyperreflexia1FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0002395Lower limb hyperreflexia1FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0002169Clonus1FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0001348Brisk reflexes1FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0007034Generalized hyperreflexia1FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0007350Hyperreflexia in upper limbs1FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0007054Hyperreflexia proximally1FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0033683Jaw hyperreflexia1FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0002395Lower limb hyperreflexia1FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0002169Clonus1FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0001348Brisk reflexes1FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0007034Generalized hyperreflexia1FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0007350Hyperreflexia in upper limbs1FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0007054Hyperreflexia proximally1FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0033683Jaw hyperreflexia1FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0002395Lower limb hyperreflexia1FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0002169Clonus1FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0001348Brisk reflexes1FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0007034Generalized hyperreflexia1FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0007350Hyperreflexia in upper limbs1FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0007054Hyperreflexia proximally1FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0033683Jaw hyperreflexia1FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0002395Lower limb hyperreflexia1FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0002169Clonus1FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0001348Brisk reflexes1FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0007034Generalized hyperreflexia1FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0007350Hyperreflexia in upper limbs1FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0007054Hyperreflexia proximally1FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0033683Jaw hyperreflexia1FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0002395Lower limb hyperreflexia1FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0002169Clonus1FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0001348Brisk reflexes1FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0007034Generalized hyperreflexia1FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0007350Hyperreflexia in upper limbs1FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0007054Hyperreflexia proximally1FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0033683Jaw hyperreflexia1FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0002395Lower limb hyperreflexia1FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0002169Clonus1FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0001348Brisk reflexes1FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0007034Generalized hyperreflexia1FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0007350Hyperreflexia in upper limbs1FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0007054Hyperreflexia proximally1FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0033683Jaw hyperreflexia1FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0002395Lower limb hyperreflexia1FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0002169Clonus1FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0001348Brisk reflexes1FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0007034Generalized hyperreflexia1FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0007350Hyperreflexia in upper limbs1FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0007054Hyperreflexia proximally1FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0033683Jaw hyperreflexia1FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0002395Lower limb hyperreflexia1FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0002169Clonus1FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0001348Brisk reflexes1FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0007034Generalized hyperreflexia1FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0007350Hyperreflexia in upper limbs1FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0007054Hyperreflexia proximally1FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0033683Jaw hyperreflexia1FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0002395Lower limb hyperreflexia1FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0002169Clonus1FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0001348Brisk reflexes1FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0007034Generalized hyperreflexia1FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0007350Hyperreflexia in upper limbs1FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0007054Hyperreflexia proximally1FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0033683Jaw hyperreflexia1FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0002395Lower limb hyperreflexia1FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0002169Clonus1FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0001348Brisk reflexes1FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0007034Generalized hyperreflexia1FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0007350Hyperreflexia in upper limbs1FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0007054Hyperreflexia proximally1FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0033683Jaw hyperreflexia1FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0002395Lower limb hyperreflexia1FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0002169Clonus1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0001348Brisk reflexes1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0007034Generalized hyperreflexia1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0006801Hyperactive deep tendon reflexes1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0007350Hyperreflexia in upper limbs1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0007054Hyperreflexia proximally1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0033683Jaw hyperreflexia1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0002395Lower limb hyperreflexia1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0002169Clonus1GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0001348Brisk reflexes1GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0007034Generalized hyperreflexia1GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0007350Hyperreflexia in upper limbs1GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0007054Hyperreflexia proximally1GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0033683Jaw hyperreflexia1GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0002395Lower limb hyperreflexia1GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0002169Clonus1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0001348Brisk reflexes1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0007034Generalized hyperreflexia1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0007350Hyperreflexia in upper limbs1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0007054Hyperreflexia proximally1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0033683Jaw hyperreflexia1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0002395Lower limb hyperreflexia1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0002169Clonus1GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0001348Brisk reflexes1GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0007034Generalized hyperreflexia1GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0007350Hyperreflexia in upper limbs1GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0007054Hyperreflexia proximally1GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0033683Jaw hyperreflexia1GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0002395Lower limb hyperreflexia1GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0002169Clonus1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0001348Brisk reflexes1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0007034Generalized hyperreflexia1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0007350Hyperreflexia in upper limbs1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0007054Hyperreflexia proximally1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0033683Jaw hyperreflexia1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0002395Lower limb hyperreflexia1GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0002169Clonus1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0001348Brisk reflexes1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0007034Generalized hyperreflexia1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0007350Hyperreflexia in upper limbs1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0007054Hyperreflexia proximally1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0033683Jaw hyperreflexia1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0002395Lower limb hyperreflexia1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0002169Clonus1GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0001348Brisk reflexes1GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0007034Generalized hyperreflexia1GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0007350Hyperreflexia in upper limbs1GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0007054Hyperreflexia proximally1GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0033683Jaw hyperreflexia1GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0002395Lower limb hyperreflexia1GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0002169Clonus1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0001348Brisk reflexes1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0007034Generalized hyperreflexia1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0006801Hyperactive deep tendon reflexes1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0007350Hyperreflexia in upper limbs1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0007054Hyperreflexia proximally1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0033683Jaw hyperreflexia1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0002395Lower limb hyperreflexia1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0002169Clonus1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0001348Brisk reflexes1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0007034Generalized hyperreflexia1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0006801Hyperactive deep tendon reflexes1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0007350Hyperreflexia in upper limbs1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0007054Hyperreflexia proximally1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0033683Jaw hyperreflexia1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0002395Lower limb hyperreflexia1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0002169Clonus1HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0001348Brisk reflexes1HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0007034Generalized hyperreflexia1HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0006801Hyperactive deep tendon reflexes1HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0007350Hyperreflexia in upper limbs1HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0007054Hyperreflexia proximally1HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0033683Jaw hyperreflexia1HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0002395Lower limb hyperreflexia1HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0002169Clonus1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0001348Brisk reflexes1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0007034Generalized hyperreflexia1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0006801Hyperactive deep tendon reflexes1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0007350Hyperreflexia in upper limbs1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0007054Hyperreflexia proximally1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0033683Jaw hyperreflexia1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0002395Lower limb hyperreflexia1HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0002169Clonus1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0001348Brisk reflexes1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0007034Generalized hyperreflexia1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0006801Hyperactive deep tendon reflexes1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0007350Hyperreflexia in upper limbs1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0007054Hyperreflexia proximally1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0033683Jaw hyperreflexia1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0002395Lower limb hyperreflexia1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0002169Clonus1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0001348Brisk reflexes1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0007034Generalized hyperreflexia1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0006801Hyperactive deep tendon reflexes1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0007350Hyperreflexia in upper limbs1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0007054Hyperreflexia proximally1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0033683Jaw hyperreflexia1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0002395Lower limb hyperreflexia1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0002169Clonus1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0001348Brisk reflexes1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0007034Generalized hyperreflexia1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0006801Hyperactive deep tendon reflexes1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0007350Hyperreflexia in upper limbs1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0007054Hyperreflexia proximally1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0033683Jaw hyperreflexia1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0002395Lower limb hyperreflexia1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0002169Clonus1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0001348Brisk reflexes1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0007034Generalized hyperreflexia1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0006801Hyperactive deep tendon reflexes1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0007350Hyperreflexia in upper limbs1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0007054Hyperreflexia proximally1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0033683Jaw hyperreflexia1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0002395Lower limb hyperreflexia1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0002169Clonus1IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0001348Brisk reflexes1IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0007034Generalized hyperreflexia1IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0006801Hyperactive deep tendon reflexes1IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0007350Hyperreflexia in upper limbs1IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0007054Hyperreflexia proximally1IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0033683Jaw hyperreflexia1IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0002395Lower limb hyperreflexia1IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0002169Clonus1IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0001348Brisk reflexes1IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0007034Generalized hyperreflexia1IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0006801Hyperactive deep tendon reflexes1IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0007350Hyperreflexia in upper limbs1IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0007054Hyperreflexia proximally1IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0033683Jaw hyperreflexia1IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0002395Lower limb hyperreflexia1IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0002169Clonus1IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0001348Brisk reflexes1IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0007034Generalized hyperreflexia1IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0006801Hyperactive deep tendon reflexes1IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0007350Hyperreflexia in upper limbs1IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0007054Hyperreflexia proximally1IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0033683Jaw hyperreflexia1IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0002395Lower limb hyperreflexia1IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0002169Clonus1IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0001348Brisk reflexes1IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0007034Generalized hyperreflexia1IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0006801Hyperactive deep tendon reflexes1IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0007350Hyperreflexia in upper limbs1IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0007054Hyperreflexia proximally1IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0033683Jaw hyperreflexia1IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0002395Lower limb hyperreflexia1IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0002169Clonus1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0001348Brisk reflexes1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0007034Generalized hyperreflexia1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0006801Hyperactive deep tendon reflexes1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0007350Hyperreflexia in upper limbs1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0007054Hyperreflexia proximally1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0033683Jaw hyperreflexia1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0002395Lower limb hyperreflexia1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0002169Clonus1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0001348Brisk reflexes1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0007034Generalized hyperreflexia1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0006801Hyperactive deep tendon reflexes1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0007350Hyperreflexia in upper limbs1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0007054Hyperreflexia proximally1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0033683Jaw hyperreflexia1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0002395Lower limb hyperreflexia1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0002169Clonus1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0001348Brisk reflexes1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0007034Generalized hyperreflexia1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0006801Hyperactive deep tendon reflexes1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0007350Hyperreflexia in upper limbs1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0007054Hyperreflexia proximally1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0033683Jaw hyperreflexia1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0002395Lower limb hyperreflexia1JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0002169Clonus1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0001348Brisk reflexes1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0007034Generalized hyperreflexia1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0007350Hyperreflexia in upper limbs1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0007054Hyperreflexia proximally1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0033683Jaw hyperreflexia1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0002395Lower limb hyperreflexia1KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0002169Clonus1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0001348Brisk reflexes1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0007034Generalized hyperreflexia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0007350Hyperreflexia in upper limbs1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0007054Hyperreflexia proximally1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0033683Jaw hyperreflexia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0002395Lower limb hyperreflexia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0002169Clonus1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0001348Brisk reflexes1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0007034Generalized hyperreflexia1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0007350Hyperreflexia in upper limbs1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0007054Hyperreflexia proximally1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0033683Jaw hyperreflexia1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0002395Lower limb hyperreflexia1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0002169Clonus1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0001348Brisk reflexes1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0007034Generalized hyperreflexia1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0007350Hyperreflexia in upper limbs1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0007054Hyperreflexia proximally1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0033683Jaw hyperreflexia1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0002395Lower limb hyperreflexia1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0002169Clonus1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0001348Brisk reflexes1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0007034Generalized hyperreflexia1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0007350Hyperreflexia in upper limbs1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0007054Hyperreflexia proximally1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0033683Jaw hyperreflexia1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0002395Lower limb hyperreflexia1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0002169Clonus1KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0001348Brisk reflexes1KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0007034Generalized hyperreflexia1KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0006801Hyperactive deep tendon reflexes1KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0007350Hyperreflexia in upper limbs1KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0007054Hyperreflexia proximally1KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0033683Jaw hyperreflexia1KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0002395Lower limb hyperreflexia1KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0002169Clonus1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0001348Brisk reflexes1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0007034Generalized hyperreflexia1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0006801Hyperactive deep tendon reflexes1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0007350Hyperreflexia in upper limbs1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0007054Hyperreflexia proximally1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0033683Jaw hyperreflexia1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0002395Lower limb hyperreflexia1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0002169Clonus1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0001348Brisk reflexes1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0007034Generalized hyperreflexia1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0007350Hyperreflexia in upper limbs1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0007054Hyperreflexia proximally1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0033683Jaw hyperreflexia1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0002395Lower limb hyperreflexia1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0002169Clonus1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0001348Brisk reflexes1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0007034Generalized hyperreflexia1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0007350Hyperreflexia in upper limbs1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0007054Hyperreflexia proximally1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0033683Jaw hyperreflexia1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0002395Lower limb hyperreflexia1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0002169Clonus1MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0001348Brisk reflexes1MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0007034Generalized hyperreflexia1MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0007350Hyperreflexia in upper limbs1MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0007054Hyperreflexia proximally1MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0033683Jaw hyperreflexia1MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0002395Lower limb hyperreflexia1MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0002169Clonus1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0001348Brisk reflexes1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0007034Generalized hyperreflexia1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0007350Hyperreflexia in upper limbs1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0007054Hyperreflexia proximally1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0033683Jaw hyperreflexia1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0002395Lower limb hyperreflexia1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0002169Clonus1MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0001348Brisk reflexes1MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0007034Generalized hyperreflexia1MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0007350Hyperreflexia in upper limbs1MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0007054Hyperreflexia proximally1MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0033683Jaw hyperreflexia1MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0002395Lower limb hyperreflexia1MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0002169Clonus1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0001348Brisk reflexes1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0007034Generalized hyperreflexia1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0007350Hyperreflexia in upper limbs1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0007054Hyperreflexia proximally1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0033683Jaw hyperreflexia1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0002395Lower limb hyperreflexia1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0002169Clonus1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0001348Brisk reflexes1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0007034Generalized hyperreflexia1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0007350Hyperreflexia in upper limbs1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0007054Hyperreflexia proximally1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0033683Jaw hyperreflexia1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0002395Lower limb hyperreflexia1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0002169Clonus1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0001348Brisk reflexes1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0007034Generalized hyperreflexia1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0006801Hyperactive deep tendon reflexes1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0007350Hyperreflexia in upper limbs1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0007054Hyperreflexia proximally1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0033683Jaw hyperreflexia1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0002395Lower limb hyperreflexia1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0002169Clonus1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0001348Brisk reflexes1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0007034Generalized hyperreflexia1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0007350Hyperreflexia in upper limbs1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0007054Hyperreflexia proximally1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0033683Jaw hyperreflexia1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0002395Lower limb hyperreflexia1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0002169Clonus1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0001348Brisk reflexes1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0007034Generalized hyperreflexia1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0007350Hyperreflexia in upper limbs1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0007054Hyperreflexia proximally1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0033683Jaw hyperreflexia1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0002395Lower limb hyperreflexia1NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0002169Clonus1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0001348Brisk reflexes1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0007034Generalized hyperreflexia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0007350Hyperreflexia in upper limbs1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0007054Hyperreflexia proximally1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0033683Jaw hyperreflexia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0002395Lower limb hyperreflexia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0002169Clonus1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0001348Brisk reflexes1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0007034Generalized hyperreflexia1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0007350Hyperreflexia in upper limbs1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0007054Hyperreflexia proximally1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0033683Jaw hyperreflexia1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0002395Lower limb hyperreflexia1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0002169Clonus1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0001348Brisk reflexes1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0007034Generalized hyperreflexia1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0007350Hyperreflexia in upper limbs1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0007054Hyperreflexia proximally1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0033683Jaw hyperreflexia1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0002395Lower limb hyperreflexia1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0002169Clonus1NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0001348Brisk reflexes1NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0007034Generalized hyperreflexia1NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0006801Hyperactive deep tendon reflexes1NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0007350Hyperreflexia in upper limbs1NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0007054Hyperreflexia proximally1NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0033683Jaw hyperreflexia1NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0002395Lower limb hyperreflexia1NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0002169Clonus1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0001348Brisk reflexes1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0007034Generalized hyperreflexia1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0006801Hyperactive deep tendon reflexes1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0007350Hyperreflexia in upper limbs1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0007054Hyperreflexia proximally1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0033683Jaw hyperreflexia1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0002395Lower limb hyperreflexia1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0002169Clonus1PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0001348Brisk reflexes1PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0007034Generalized hyperreflexia1PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0007350Hyperreflexia in upper limbs1PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0007054Hyperreflexia proximally1PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0033683Jaw hyperreflexia1PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0002395Lower limb hyperreflexia1PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0002169Clonus1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0001348Brisk reflexes1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0007034Generalized hyperreflexia1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0007350Hyperreflexia in upper limbs1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0007054Hyperreflexia proximally1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0033683Jaw hyperreflexia1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0002395Lower limb hyperreflexia1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0002169Clonus1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0001348Brisk reflexes1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0007034Generalized hyperreflexia1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0007350Hyperreflexia in upper limbs1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0007054Hyperreflexia proximally1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0033683Jaw hyperreflexia1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0002395Lower limb hyperreflexia1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0002169Clonus1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0001348Brisk reflexes1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0007034Generalized hyperreflexia1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0007350Hyperreflexia in upper limbs1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0007054Hyperreflexia proximally1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0033683Jaw hyperreflexia1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0002395Lower limb hyperreflexia1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0002169Clonus1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0001348Brisk reflexes1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0007034Generalized hyperreflexia1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0007350Hyperreflexia in upper limbs1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0007054Hyperreflexia proximally1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0033683Jaw hyperreflexia1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0002395Lower limb hyperreflexia1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0002169Clonus1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0001348Brisk reflexes1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0007034Generalized hyperreflexia1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0007350Hyperreflexia in upper limbs1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0007054Hyperreflexia proximally1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0033683Jaw hyperreflexia1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0002395Lower limb hyperreflexia1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0002169Clonus1PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0001348Brisk reflexes1PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0007034Generalized hyperreflexia1PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0007350Hyperreflexia in upper limbs1PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0007054Hyperreflexia proximally1PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0033683Jaw hyperreflexia1PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0002395Lower limb hyperreflexia1PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0002169Clonus1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0001348Brisk reflexes1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0007034Generalized hyperreflexia1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0007350Hyperreflexia in upper limbs1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0007054Hyperreflexia proximally1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0033683Jaw hyperreflexia1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0002395Lower limb hyperreflexia1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0002169Clonus1PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0001348Brisk reflexes1PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0007034Generalized hyperreflexia1PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0007350Hyperreflexia in upper limbs1PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0007054Hyperreflexia proximally1PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0033683Jaw hyperreflexia1PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0002395Lower limb hyperreflexia1PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0002169Clonus1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0001348Brisk reflexes1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0007034Generalized hyperreflexia1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0006801Hyperactive deep tendon reflexes1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0007350Hyperreflexia in upper limbs1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0007054Hyperreflexia proximally1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0033683Jaw hyperreflexia1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0002395Lower limb hyperreflexia1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0002169Clonus1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0001348Brisk reflexes1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0007034Generalized hyperreflexia1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0007054Hyperreflexia proximally1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0033683Jaw hyperreflexia1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0002395Lower limb hyperreflexia1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0002169Clonus1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0001348Brisk reflexes1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0007034Generalized hyperreflexia1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0007350Hyperreflexia in upper limbs1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0007054Hyperreflexia proximally1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0033683Jaw hyperreflexia1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0002395Lower limb hyperreflexia1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0002169Clonus1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0001348Brisk reflexes1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0007034Generalized hyperreflexia1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0007054Hyperreflexia proximally1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0033683Jaw hyperreflexia1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0002395Lower limb hyperreflexia1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0002169Clonus1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0001348Brisk reflexes1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0007034Generalized hyperreflexia1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0007054Hyperreflexia proximally1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0033683Jaw hyperreflexia1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0002395Lower limb hyperreflexia1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0002169Clonus1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0001348Brisk reflexes1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0007034Generalized hyperreflexia1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0007054Hyperreflexia proximally1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0033683Jaw hyperreflexia1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0002395Lower limb hyperreflexia1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0002169Clonus1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0001348Brisk reflexes1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0007034Generalized hyperreflexia1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0007054Hyperreflexia proximally1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0033683Jaw hyperreflexia1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0002395Lower limb hyperreflexia1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0002169Clonus1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0001348Brisk reflexes1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0007034Generalized hyperreflexia1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0007054Hyperreflexia proximally1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0033683Jaw hyperreflexia1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0002395Lower limb hyperreflexia1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0002169Clonus1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0001348Brisk reflexes1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0007034Generalized hyperreflexia1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0007054Hyperreflexia proximally1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0033683Jaw hyperreflexia1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0002395Lower limb hyperreflexia1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0002169Clonus1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0001348Brisk reflexes1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0007034Generalized hyperreflexia1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0007350Hyperreflexia in upper limbs1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0007054Hyperreflexia proximally1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0033683Jaw hyperreflexia1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0002395Lower limb hyperreflexia1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0002169Clonus1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0001348Brisk reflexes1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0007034Generalized hyperreflexia1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0006801Hyperactive deep tendon reflexes1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0007350Hyperreflexia in upper limbs1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0007054Hyperreflexia proximally1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0033683Jaw hyperreflexia1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0002395Lower limb hyperreflexia1PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0002169Clonus1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0001348Brisk reflexes1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0007034Generalized hyperreflexia1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0006801Hyperactive deep tendon reflexes1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0007350Hyperreflexia in upper limbs1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0007054Hyperreflexia proximally1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0033683Jaw hyperreflexia1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0002395Lower limb hyperreflexia1QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0002169Clonus1RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0001348Brisk reflexes1RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0007034Generalized hyperreflexia1RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0007350Hyperreflexia in upper limbs1RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0007054Hyperreflexia proximally1RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0033683Jaw hyperreflexia1RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0002395Lower limb hyperreflexia1RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0002169Clonus1RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0001348Brisk reflexes1RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0007034Generalized hyperreflexia1RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0007350Hyperreflexia in upper limbs1RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0007054Hyperreflexia proximally1RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0033683Jaw hyperreflexia1RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0002395Lower limb hyperreflexia1RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0002169Clonus1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0001348Brisk reflexes1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0007034Generalized hyperreflexia1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0007350Hyperreflexia in upper limbs1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0007054Hyperreflexia proximally1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0033683Jaw hyperreflexia1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0002395Lower limb hyperreflexia1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0002169Clonus1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0001348Brisk reflexes1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0007034Generalized hyperreflexia1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0007350Hyperreflexia in upper limbs1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0007054Hyperreflexia proximally1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0033683Jaw hyperreflexia1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0002395Lower limb hyperreflexia1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0002169Clonus1REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0001348Brisk reflexes1REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0007034Generalized hyperreflexia1REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0006801Hyperactive deep tendon reflexes1REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0007350Hyperreflexia in upper limbs1REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0007054Hyperreflexia proximally1REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0033683Jaw hyperreflexia1REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0002395Lower limb hyperreflexia1REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0002169Clonus1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0001348Brisk reflexes1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0007034Generalized hyperreflexia1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0006801Hyperactive deep tendon reflexes1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0007350Hyperreflexia in upper limbs1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0007054Hyperreflexia proximally1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0033683Jaw hyperreflexia1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0002395Lower limb hyperreflexia1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0002169Clonus1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0001348Brisk reflexes1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0007034Generalized hyperreflexia1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0007350Hyperreflexia in upper limbs1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0007054Hyperreflexia proximally1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0033683Jaw hyperreflexia1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0002395Lower limb hyperreflexia1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0002169Clonus1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0001348Brisk reflexes1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0007034Generalized hyperreflexia1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0007350Hyperreflexia in upper limbs1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0007054Hyperreflexia proximally1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0033683Jaw hyperreflexia1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0002395Lower limb hyperreflexia1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0002169Clonus1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0001348Brisk reflexes1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0007034Generalized hyperreflexia1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0007350Hyperreflexia in upper limbs1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0007054Hyperreflexia proximally1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0033683Jaw hyperreflexia1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0002395Lower limb hyperreflexia1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0002169Clonus1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0001348Brisk reflexes1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0007034Generalized hyperreflexia1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0007350Hyperreflexia in upper limbs1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0007054Hyperreflexia proximally1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0033683Jaw hyperreflexia1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0002395Lower limb hyperreflexia1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0002169Clonus1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0001348Brisk reflexes1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0007034Generalized hyperreflexia1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0007350Hyperreflexia in upper limbs1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0007054Hyperreflexia proximally1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0033683Jaw hyperreflexia1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0002395Lower limb hyperreflexia1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0002169Clonus1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0001348Brisk reflexes1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0007034Generalized hyperreflexia1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0007350Hyperreflexia in upper limbs1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0007054Hyperreflexia proximally1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0033683Jaw hyperreflexia1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0002395Lower limb hyperreflexia1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0002169Clonus1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0001348Brisk reflexes1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0007034Generalized hyperreflexia1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0007350Hyperreflexia in upper limbs1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0007054Hyperreflexia proximally1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0033683Jaw hyperreflexia1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0002395Lower limb hyperreflexia1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0002169Clonus1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0001348Brisk reflexes1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0007034Generalized hyperreflexia1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0007350Hyperreflexia in upper limbs1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0007054Hyperreflexia proximally1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0033683Jaw hyperreflexia1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0002395Lower limb hyperreflexia1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0002169Clonus1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0001348Brisk reflexes1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0007034Generalized hyperreflexia1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0007350Hyperreflexia in upper limbs1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0007054Hyperreflexia proximally1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0033683Jaw hyperreflexia1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0002395Lower limb hyperreflexia1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0002169Clonus1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0001348Brisk reflexes1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0007034Generalized hyperreflexia1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0007350Hyperreflexia in upper limbs1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0007054Hyperreflexia proximally1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0033683Jaw hyperreflexia1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0002395Lower limb hyperreflexia1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0002169Clonus1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0001348Brisk reflexes1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0007034Generalized hyperreflexia1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0006801Hyperactive deep tendon reflexes1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0007350Hyperreflexia in upper limbs1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0007054Hyperreflexia proximally1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0033683Jaw hyperreflexia1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0002395Lower limb hyperreflexia1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0002169Clonus1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0001348Brisk reflexes1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0007034Generalized hyperreflexia1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0007350Hyperreflexia in upper limbs1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0007054Hyperreflexia proximally1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0033683Jaw hyperreflexia1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0002395Lower limb hyperreflexia1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0002169Clonus1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0001348Brisk reflexes1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0007034Generalized hyperreflexia1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0007350Hyperreflexia in upper limbs1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0007054Hyperreflexia proximally1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0033683Jaw hyperreflexia1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0002395Lower limb hyperreflexia1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0002169Clonus1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0001348Brisk reflexes1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0007034Generalized hyperreflexia1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0007350Hyperreflexia in upper limbs1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0007054Hyperreflexia proximally1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0033683Jaw hyperreflexia1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0002395Lower limb hyperreflexia1SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0002169Clonus1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0001348Brisk reflexes1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0007034Generalized hyperreflexia1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0007350Hyperreflexia in upper limbs1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0007054Hyperreflexia proximally1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0033683Jaw hyperreflexia1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0002395Lower limb hyperreflexia1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0002169Clonus1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0001348Brisk reflexes1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0007034Generalized hyperreflexia1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0007350Hyperreflexia in upper limbs1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0007054Hyperreflexia proximally1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0033683Jaw hyperreflexia1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0002395Lower limb hyperreflexia1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0002169Clonus1SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0001348Brisk reflexes1SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0007034Generalized hyperreflexia1SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0007350Hyperreflexia in upper limbs1SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0007054Hyperreflexia proximally1SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0033683Jaw hyperreflexia1SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0002395Lower limb hyperreflexia1SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0002169Clonus1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0001348Brisk reflexes1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0007034Generalized hyperreflexia1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0007054Hyperreflexia proximally1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0033683Jaw hyperreflexia1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0002395Lower limb hyperreflexia1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0002169Clonus1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0001348Brisk reflexes1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0007034Generalized hyperreflexia1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0007054Hyperreflexia proximally1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0033683Jaw hyperreflexia1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0002395Lower limb hyperreflexia1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0002169Clonus1SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0001348Brisk reflexes1SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0007034Generalized hyperreflexia1SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0007054Hyperreflexia proximally1SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0033683Jaw hyperreflexia1SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0002395Lower limb hyperreflexia1SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0002169Clonus1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0001348Brisk reflexes1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0007034Generalized hyperreflexia1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0007054Hyperreflexia proximally1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0033683Jaw hyperreflexia1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0002395Lower limb hyperreflexia1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0002169Clonus1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0001348Brisk reflexes1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0007034Generalized hyperreflexia1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0007350Hyperreflexia in upper limbs1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0007054Hyperreflexia proximally1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0033683Jaw hyperreflexia1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0002395Lower limb hyperreflexia1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0002169Clonus1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0001348Brisk reflexes1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0007034Generalized hyperreflexia1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0007350Hyperreflexia in upper limbs1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0007054Hyperreflexia proximally1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0033683Jaw hyperreflexia1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0002395Lower limb hyperreflexia1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0002169Clonus1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0001348Brisk reflexes1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0007034Generalized hyperreflexia1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0007054Hyperreflexia proximally1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0033683Jaw hyperreflexia1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0002395Lower limb hyperreflexia1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0002169Clonus1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0001348Brisk reflexes1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0007034Generalized hyperreflexia1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0007054Hyperreflexia proximally1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0033683Jaw hyperreflexia1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0002395Lower limb hyperreflexia1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0002169Clonus1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0001348Brisk reflexes1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0007034Generalized hyperreflexia1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0007350Hyperreflexia in upper limbs1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0007054Hyperreflexia proximally1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0033683Jaw hyperreflexia1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0002395Lower limb hyperreflexia1SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0002169Clonus1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0001348Brisk reflexes1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0007034Generalized hyperreflexia1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0006801Hyperactive deep tendon reflexes1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0007350Hyperreflexia in upper limbs1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0007054Hyperreflexia proximally1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0033683Jaw hyperreflexia1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0002395Lower limb hyperreflexia1SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0002169Clonus1STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0001348Brisk reflexes1STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0007034Generalized hyperreflexia1STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0006801Hyperactive deep tendon reflexes1STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0007350Hyperreflexia in upper limbs1STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0007054Hyperreflexia proximally1STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0033683Jaw hyperreflexia1STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0002395Lower limb hyperreflexia1STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0002169Clonus1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0001348Brisk reflexes1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0007034Generalized hyperreflexia1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0007350Hyperreflexia in upper limbs1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0007054Hyperreflexia proximally1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0033683Jaw hyperreflexia1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0002395Lower limb hyperreflexia1TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0002169Clonus1TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0001348Brisk reflexes1TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0007034Generalized hyperreflexia1TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0007350Hyperreflexia in upper limbs1TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0007054Hyperreflexia proximally1TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0033683Jaw hyperreflexia1TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0002395Lower limb hyperreflexia1TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0002169Clonus1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0001348Brisk reflexes1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0007034Generalized hyperreflexia1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0007350Hyperreflexia in upper limbs1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0007054Hyperreflexia proximally1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0033683Jaw hyperreflexia1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0002395Lower limb hyperreflexia1TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0002169Clonus1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0001348Brisk reflexes1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0007034Generalized hyperreflexia1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0007350Hyperreflexia in upper limbs1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0007054Hyperreflexia proximally1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0033683Jaw hyperreflexia1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0002395Lower limb hyperreflexia1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0002169Clonus1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0001348Brisk reflexes1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0007034Generalized hyperreflexia1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0007350Hyperreflexia in upper limbs1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0007054Hyperreflexia proximally1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0033683Jaw hyperreflexia1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0002395Lower limb hyperreflexia1TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0002169Clonus1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0001348Brisk reflexes1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0007034Generalized hyperreflexia1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0007350Hyperreflexia in upper limbs1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0007054Hyperreflexia proximally1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0033683Jaw hyperreflexia1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0002395Lower limb hyperreflexia1TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0002169Clonus1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0001348Brisk reflexes1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0007034Generalized hyperreflexia1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0007350Hyperreflexia in upper limbs1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0007054Hyperreflexia proximally1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0033683Jaw hyperreflexia1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0002395Lower limb hyperreflexia1TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0002169Clonus1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0001348Brisk reflexes1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0007034Generalized hyperreflexia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0007350Hyperreflexia in upper limbs1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0007054Hyperreflexia proximally1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0033683Jaw hyperreflexia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0002395Lower limb hyperreflexia1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0002169Clonus1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0001348Brisk reflexes1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0007034Generalized hyperreflexia1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0007350Hyperreflexia in upper limbs1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0007054Hyperreflexia proximally1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0033683Jaw hyperreflexia1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0002395Lower limb hyperreflexia1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0002169Clonus1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0001348Brisk reflexes1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0007034Generalized hyperreflexia1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0007350Hyperreflexia in upper limbs1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0007054Hyperreflexia proximally1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0033683Jaw hyperreflexia1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0002395Lower limb hyperreflexia1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0002169Clonus1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0001348Brisk reflexes1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0007034Generalized hyperreflexia1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0006801Hyperactive deep tendon reflexes1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0007350Hyperreflexia in upper limbs1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0007054Hyperreflexia proximally1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0033683Jaw hyperreflexia1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0002395Lower limb hyperreflexia1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0002169Clonus1UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0001348Brisk reflexes1UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0007034Generalized hyperreflexia1UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0006801Hyperactive deep tendon reflexes1UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0007350Hyperreflexia in upper limbs1UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0007054Hyperreflexia proximally1UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0033683Jaw hyperreflexia1UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0002395Lower limb hyperreflexia1UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0002169Clonus1UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0001348Brisk reflexes1UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0007034Generalized hyperreflexia1UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0006801Hyperactive deep tendon reflexes1UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0007350Hyperreflexia in upper limbs1UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0007054Hyperreflexia proximally1UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0033683Jaw hyperreflexia1UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0002395Lower limb hyperreflexia1UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0002169Clonus1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0001348Brisk reflexes1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0007034Generalized hyperreflexia1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0006801Hyperactive deep tendon reflexes1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0007350Hyperreflexia in upper limbs1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0007054Hyperreflexia proximally1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0033683Jaw hyperreflexia1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0002395Lower limb hyperreflexia1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0002169Clonus1VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0001348Brisk reflexes1VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0007034Generalized hyperreflexia1VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0006801Hyperactive deep tendon reflexes1VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0007350Hyperreflexia in upper limbs1VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0007054Hyperreflexia proximally1VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0033683Jaw hyperreflexia1VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0002395Lower limb hyperreflexia1VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0002169Clonus1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0001348Brisk reflexes1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0007034Generalized hyperreflexia1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0006801Hyperactive deep tendon reflexes1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0007350Hyperreflexia in upper limbs1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0007054Hyperreflexia proximally1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0033683Jaw hyperreflexia1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0002395Lower limb hyperreflexia1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0002169Clonus1XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0001348Brisk reflexes1XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0007034Generalized hyperreflexia1XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0006801Hyperactive deep tendon reflexes1XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0007350Hyperreflexia in upper limbs1XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0007054Hyperreflexia proximally1XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0033683Jaw hyperreflexia1XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0002395Lower limb hyperreflexia1XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0002169Clonus1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0001348Brisk reflexes1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0007034Generalized hyperreflexia1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0007350Hyperreflexia in upper limbs1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0007054Hyperreflexia proximally1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0033683Jaw hyperreflexia1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0002395Lower limb hyperreflexia1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0002169Clonus1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0001348Brisk reflexes1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0007034Generalized hyperreflexia1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0006801Hyperactive deep tendon reflexes1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0007350Hyperreflexia in upper limbs1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0007054Hyperreflexia proximally1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0033683Jaw hyperreflexia1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0002395Lower limb hyperreflexia1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0011448Ankle clonus2AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0011728Elbow clonus2AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0011449Knee clonus2AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0033205Biceps hyperreflexia2AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0033203Brachioradialis hyperreflexia2AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0033204Triceps hyperreflexia2AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0033206Hyperactive Achilles reflex2AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0007083Hyperactive patellar reflex2AAAS CL E G H8086869ORPHA021713666605378
HP:0001347HP:0011448Ankle clonus2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0011728Elbow clonus2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0011449Knee clonus2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0033205Biceps hyperreflexia2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0033203Brachioradialis hyperreflexia2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0033204Triceps hyperreflexia2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0033206Hyperactive Achilles reflex2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0007083Hyperactive patellar reflex2ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0323334601691
HP:0001347HP:0011448Ankle clonus2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0011728Elbow clonus2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0011449Knee clonus2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0033205Biceps hyperreflexia2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0033203Brachioradialis hyperreflexia2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0033204Triceps hyperreflexia2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0033206Hyperactive Achilles reflex2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0007083Hyperactive patellar reflex2ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM0506129102610
HP:0001347HP:0011448Ankle clonus2ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0011728Elbow clonus2ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0011449Knee clonus2ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0033205Biceps hyperreflexia2ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0033203Brachioradialis hyperreflexia2ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0033204Triceps hyperreflexia2ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0033206Hyperactive Achilles reflex2ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0007083Hyperactive patellar reflex2ADCY5 CL E G H111324588ORPHA0653236600293
HP:0001347HP:0011448Ankle clonus2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0011728Elbow clonus2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0011449Knee clonus2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0033205Biceps hyperreflexia2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0033203Brachioradialis hyperreflexia2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0033204Triceps hyperreflexia2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0033206Hyperactive Achilles reflex2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0007083Hyperactive patellar reflex2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM0653236600293
HP:0001347HP:0011448Ankle clonus2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0011728Elbow clonus2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0011449Knee clonus2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0033205Biceps hyperreflexia2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0033203Brachioradialis hyperreflexia2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0033204Triceps hyperreflexia2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0033206Hyperactive Achilles reflex2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0007083Hyperactive patellar reflex2AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA060126147615900
HP:0001347HP:0011448Ankle clonus2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0011728Elbow clonus2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0011449Knee clonus2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0033205Biceps hyperreflexia2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0033203Brachioradialis hyperreflexia2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0033204Triceps hyperreflexia2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0033206Hyperactive Achilles reflex2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0007083Hyperactive patellar reflex2AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0119421575608894
HP:0001347HP:0011448Ankle clonus2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0011728Elbow clonus2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0011449Knee clonus2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0033205Biceps hyperreflexia2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0033203Brachioradialis hyperreflexia2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0033204Triceps hyperreflexia2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0033206Hyperactive Achilles reflex2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0007083Hyperactive patellar reflex2AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0479348600253
HP:0001347HP:0011448Ankle clonus2APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0011728Elbow clonus2APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0011449Knee clonus2APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0033205Biceps hyperreflexia2APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0033203Brachioradialis hyperreflexia2APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0033204Triceps hyperreflexia2APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0033206Hyperactive Achilles reflex2APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0007083Hyperactive patellar reflex2APC2 CL E G H10297821ORPHA073024036612034
HP:0001347HP:0011448Ankle clonus2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0011728Elbow clonus2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0011449Knee clonus2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0033205Biceps hyperreflexia2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0033203Brachioradialis hyperreflexia2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0033204Triceps hyperreflexia2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0033206Hyperactive Achilles reflex2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0007083Hyperactive patellar reflex2ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA091217090616432
HP:0001347HP:0011448Ankle clonus2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0011728Elbow clonus2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0011449Knee clonus2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0033205Biceps hyperreflexia2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0033203Brachioradialis hyperreflexia2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0033204Triceps hyperreflexia2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0033206Hyperactive Achilles reflex2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0007083Hyperactive patellar reflex2ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011317146615407
HP:0001347HP:0011448Ankle clonus2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0011728Elbow clonus2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0011449Knee clonus2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0033205Biceps hyperreflexia2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0033203Brachioradialis hyperreflexia2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0033204Triceps hyperreflexia2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0033206Hyperactive Achilles reflex2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0007083Hyperactive patellar reflex2ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0137694604695
HP:0001347HP:0011448Ankle clonus2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0011728Elbow clonus2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0011449Knee clonus2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0033205Biceps hyperreflexia2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0033203Brachioradialis hyperreflexia2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0033204Triceps hyperreflexia2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0033206Hyperactive Achilles reflex2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0007083Hyperactive patellar reflex2ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA020113210608845
HP:0001347HP:0011448Ankle clonus2ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0011728Elbow clonus2ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0011449Knee clonus2ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0033205Biceps hyperreflexia2ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0033204Triceps hyperreflexia2ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0033206Hyperactive Achilles reflex2ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0007083Hyperactive patellar reflex2ATL1 CL E G H51062613708Hereditary sensory neuropathy type 1D613708C3150972OMIM051711231606439
HP:0001347HP:0011448Ankle clonus2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0011728Elbow clonus2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0011449Knee clonus2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0033205Biceps hyperreflexia2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0033204Triceps hyperreflexia2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0033206Hyperactive Achilles reflex2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0007083Hyperactive patellar reflex2ATP6AP2 CL E G H10159300911Parkinsonism with spasticity, X-linked300911C3806722OMIM034018305300556
HP:0001347HP:0011448Ankle clonus2ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0011728Elbow clonus2ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0011449Knee clonus2ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0033205Biceps hyperreflexia2ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0033204Triceps hyperreflexia2ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0033206Hyperactive Achilles reflex2ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0007083Hyperactive patellar reflex2ATXN10 CL E G H2581498761ORPHA011610549611150
HP:0001347HP:0011448Ankle clonus2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0011728Elbow clonus2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0011449Knee clonus2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0033205Biceps hyperreflexia2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0033203Brachioradialis hyperreflexia2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0033204Triceps hyperreflexia2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0033206Hyperactive Achilles reflex2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0007083Hyperactive patellar reflex2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001347HP:0011448Ankle clonus2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0011728Elbow clonus2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0011449Knee clonus2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0033205Biceps hyperreflexia2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0033203Brachioradialis hyperreflexia2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0033204Triceps hyperreflexia2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0033206Hyperactive Achilles reflex2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0007083Hyperactive patellar reflex2BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0894967606151
HP:0001347HP:0011448Ankle clonus2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0011728Elbow clonus2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0011449Knee clonus2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0033205Biceps hyperreflexia2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0033203Brachioradialis hyperreflexia2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0033204Triceps hyperreflexia2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0033206Hyperactive Achilles reflex2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0007083Hyperactive patellar reflex2BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA079312703607854
HP:0001347HP:0011448Ankle clonus2BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0011728Elbow clonus2BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0011449Knee clonus2BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0033205Biceps hyperreflexia2BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0033203Brachioradialis hyperreflexia2BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0033204Triceps hyperreflexia2BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0033206Hyperactive Achilles reflex2BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0007083Hyperactive patellar reflex2BICD2 CL E G H23299363454ORPHA074017208609797
HP:0001347HP:0011448Ankle clonus2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0011728Elbow clonus2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0011449Knee clonus2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0033205Biceps hyperreflexia2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0033203Brachioradialis hyperreflexia2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0033204Triceps hyperreflexia2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0033206Hyperactive Achilles reflex2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0007083Hyperactive patellar reflex2BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM074017208609797
HP:0001347HP:0011448Ankle clonus2BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0011728Elbow clonus2BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0011449Knee clonus2BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0033205Biceps hyperreflexia2BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0033203Brachioradialis hyperreflexia2BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0033204Triceps hyperreflexia2BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0033206Hyperactive Achilles reflex2BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0007083Hyperactive patellar reflex2BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001347HP:0011448Ankle clonus2BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0011728Elbow clonus2BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0011449Knee clonus2BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0033205Biceps hyperreflexia2BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0033203Brachioradialis hyperreflexia2BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0033204Triceps hyperreflexia2BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0033206Hyperactive Achilles reflex2BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0007083Hyperactive patellar reflex2BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001347HP:0011448Ankle clonus2BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0011728Elbow clonus2BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0011449Knee clonus2BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0033205Biceps hyperreflexia2BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0033203Brachioradialis hyperreflexia2BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0033204Triceps hyperreflexia2BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0033206Hyperactive Achilles reflex2BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0007083Hyperactive patellar reflex2BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001347HP:0011448Ankle clonus2BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0011728Elbow clonus2BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0011449Knee clonus2BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0033205Biceps hyperreflexia2BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0033203Brachioradialis hyperreflexia2BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0033204Triceps hyperreflexia2BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0033206Hyperactive Achilles reflex2BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0007083Hyperactive patellar reflex2BSCL2 CL E G H26580139536ORPHA051015832606158
HP:0001347HP:0011448Ankle clonus2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0011728Elbow clonus2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0011449Knee clonus2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0033205Biceps hyperreflexia2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0033203Brachioradialis hyperreflexia2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0033204Triceps hyperreflexia2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0033206Hyperactive Achilles reflex2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0007083Hyperactive patellar reflex2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM051015832606158
HP:0001347HP:0011448Ankle clonus2C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0011728Elbow clonus2C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0011449Knee clonus2C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0033205Biceps hyperreflexia2C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0033203Brachioradialis hyperreflexia2C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0033204Triceps hyperreflexia2C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0033206Hyperactive Achilles reflex2C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0007083Hyperactive patellar reflex2C4A CL E G H720117ORPHA0531323120810
HP:0001347HP:0011448Ankle clonus2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0011728Elbow clonus2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0011449Knee clonus2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0033205Biceps hyperreflexia2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0033203Brachioradialis hyperreflexia2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0033204Triceps hyperreflexia2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0033206Hyperactive Achilles reflex2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0007083Hyperactive patellar reflex2C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA027232614477
HP:0001347HP:0011448Ankle clonus2C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0011728Elbow clonus2C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0011449Knee clonus2C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0033205Biceps hyperreflexia2C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0033203Brachioradialis hyperreflexia2C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0033204Triceps hyperreflexia2C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0033206Hyperactive Achilles reflex2C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0007083Hyperactive patellar reflex2C9orf72 CL E G H203228275864ORPHA017728337614260
HP:0001347HP:0011448Ankle clonus2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0011728Elbow clonus2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0011449Knee clonus2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0033205Biceps hyperreflexia2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0033203Brachioradialis hyperreflexia2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0033204Triceps hyperreflexia2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0033206Hyperactive Achilles reflex2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0007083Hyperactive patellar reflex2CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02831375114760
HP:0001347HP:0011448Ankle clonus2CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0011728Elbow clonus2CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0011449Knee clonus2CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0033205Biceps hyperreflexia2CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0033203Brachioradialis hyperreflexia2CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0033204Triceps hyperreflexia2CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0033206Hyperactive Achilles reflex2CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0007083Hyperactive patellar reflex2CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM08221394604065
HP:0001347HP:0011448Ankle clonus2CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0011728Elbow clonus2CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0011449Knee clonus2CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0033205Biceps hyperreflexia2CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0033203Brachioradialis hyperreflexia2CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0033204Triceps hyperreflexia2CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0033206Hyperactive Achilles reflex2CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0007083Hyperactive patellar reflex2CCR1 CL E G H1230117ORPHA0311602601159
HP:0001347HP:0011448Ankle clonus2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0011728Elbow clonus2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0011449Knee clonus2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0033205Biceps hyperreflexia2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0033203Brachioradialis hyperreflexia2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0033204Triceps hyperreflexia2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0033206Hyperactive Achilles reflex2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0007083Hyperactive patellar reflex2CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA089014550609502
HP:0001347HP:0011448Ankle clonus2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0011728Elbow clonus2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0011449Knee clonus2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0033205Biceps hyperreflexia2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0033203Brachioradialis hyperreflexia2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0033204Triceps hyperreflexia2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0033206Hyperactive Achilles reflex2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0007083Hyperactive patellar reflex2CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078221699608381
HP:0001347HP:0011448Ankle clonus2CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0011728Elbow clonus2CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0011449Knee clonus2CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0033205Biceps hyperreflexia2CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0033203Brachioradialis hyperreflexia2CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0033204Triceps hyperreflexia2CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0033206Hyperactive Achilles reflex2CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0007083Hyperactive patellar reflex2CHMP2B CL E G H25978275864ORPHA016024537609512
HP:0001347HP:0011448Ankle clonus2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0011728Elbow clonus2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0011449Knee clonus2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0033205Biceps hyperreflexia2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0033203Brachioradialis hyperreflexia2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0033204Triceps hyperreflexia2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0033206Hyperactive Achilles reflex2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0007083Hyperactive patellar reflex2CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA035812605606397
HP:0001347HP:0011448Ankle clonus2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0011728Elbow clonus2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0011449Knee clonus2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0033205Biceps hyperreflexia2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0033203Brachioradialis hyperreflexia2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0033204Triceps hyperreflexia2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0033206Hyperactive Achilles reflex2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0007083Hyperactive patellar reflex2CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04562148123825
HP:0001347HP:0011448Ankle clonus2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0011728Elbow clonus2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0011449Knee clonus2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0033205Biceps hyperreflexia2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0033203Brachioradialis hyperreflexia2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0033204Triceps hyperreflexia2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0033206Hyperactive Achilles reflex2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0007083Hyperactive patellar reflex2CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011792151600724
HP:0001347HP:0011448Ankle clonus2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0011728Elbow clonus2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0011449Knee clonus2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0033205Biceps hyperreflexia2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0033203Brachioradialis hyperreflexia2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0033204Triceps hyperreflexia2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0033206Hyperactive Achilles reflex2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0007083Hyperactive patellar reflex2CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA016332343604210
HP:0001347HP:0011448Ankle clonus2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0011728Elbow clonus2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0011449Knee clonus2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0033205Biceps hyperreflexia2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0033203Brachioradialis hyperreflexia2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0033204Triceps hyperreflexia2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0033206Hyperactive Achilles reflex2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0007083Hyperactive patellar reflex2CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04992383602225
HP:0001347HP:0011448Ankle clonus2DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0011728Elbow clonus2DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0011449Knee clonus2DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0033205Biceps hyperreflexia2DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0033203Brachioradialis hyperreflexia2DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0033204Triceps hyperreflexia2DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0033206Hyperactive Achilles reflex2DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0007083Hyperactive patellar reflex2DCC CL E G H1630617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2617542C4479640OMIM02592701120470
HP:0001347HP:0011448Ankle clonus2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0011728Elbow clonus2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0011449Knee clonus2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0033205Biceps hyperreflexia2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0033203Brachioradialis hyperreflexia2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0033204Triceps hyperreflexia2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0033206Hyperactive Achilles reflex2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0007083Hyperactive patellar reflex2DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043420603608172
HP:0001347HP:0011448Ankle clonus2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0011728Elbow clonus2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0011449Knee clonus2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0033205Biceps hyperreflexia2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0033203Brachioradialis hyperreflexia2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0033204Triceps hyperreflexia2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0033206Hyperactive Achilles reflex2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0007083Hyperactive patellar reflex2DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA076417211605584
HP:0001347HP:0011448Ankle clonus2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0011728Elbow clonus2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0011449Knee clonus2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0033205Biceps hyperreflexia2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0033203Brachioradialis hyperreflexia2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0033204Triceps hyperreflexia2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0033206Hyperactive Achilles reflex2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0007083Hyperactive patellar reflex2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001347HP:0011448Ankle clonus2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0011728Elbow clonus2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0011449Knee clonus2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0033205Biceps hyperreflexia2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0033203Brachioradialis hyperreflexia2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0033204Triceps hyperreflexia2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0033206Hyperactive Achilles reflex2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0007083Hyperactive patellar reflex2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM02083267300161
HP:0001347HP:0011448Ankle clonus2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0011728Elbow clonus2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0011449Knee clonus2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0033205Biceps hyperreflexia2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0033203Brachioradialis hyperreflexia2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0033204Triceps hyperreflexia2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0033206Hyperactive Achilles reflex2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0007083Hyperactive patellar reflex2ELP2 CL E G H55250617270Mental retardation, autosomal recessive 58617270C4310641OMIM016618248616054
HP:0001347HP:0011448Ankle clonus2ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0011728Elbow clonus2ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0011449Knee clonus2ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0033205Biceps hyperreflexia2ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0033203Brachioradialis hyperreflexia2ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0033204Triceps hyperreflexia2ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0033206Hyperactive Achilles reflex2ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0007083Hyperactive patellar reflex2ERAP1 CL E G H51752117ORPHA017518173606832
HP:0001347HP:0011448Ankle clonus2ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0011728Elbow clonus2ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0011449Knee clonus2ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0033205Biceps hyperreflexia2ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0033203Brachioradialis hyperreflexia2ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0033204Triceps hyperreflexia2ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0033206Hyperactive Achilles reflex2ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0007083Hyperactive patellar reflex2ERCC4 CL E G H207284ORPHA07263436133520
HP:0001347HP:0011448Ankle clonus2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0011728Elbow clonus2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0011449Knee clonus2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0033205Biceps hyperreflexia2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0033203Brachioradialis hyperreflexia2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0033204Triceps hyperreflexia2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0033206Hyperactive Achilles reflex2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0007083Hyperactive patellar reflex2ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM013616947611604
HP:0001347HP:0011448Ankle clonus2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0011728Elbow clonus2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0011449Knee clonus2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0033205Biceps hyperreflexia2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0033203Brachioradialis hyperreflexia2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0033204Triceps hyperreflexia2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0033206Hyperactive Achilles reflex2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0007083Hyperactive patellar reflex2EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0383021555612424
HP:0001347HP:0011448Ankle clonus2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0011728Elbow clonus2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0011449Knee clonus2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0033205Biceps hyperreflexia2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0033203Brachioradialis hyperreflexia2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0033204Triceps hyperreflexia2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0033206Hyperactive Achilles reflex2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0007083Hyperactive patellar reflex2FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA069925808613596
HP:0001347HP:0011448Ankle clonus2FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0011728Elbow clonus2FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0011449Knee clonus2FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0033205Biceps hyperreflexia2FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0033203Brachioradialis hyperreflexia2FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0033204Triceps hyperreflexia2FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0033206Hyperactive Achilles reflex2FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0007083Hyperactive patellar reflex2FANCA CL E G H217584ORPHA043963582607139
HP:0001347HP:0011448Ankle clonus2FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0011728Elbow clonus2FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0011449Knee clonus2FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0033205Biceps hyperreflexia2FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0033203Brachioradialis hyperreflexia2FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0033204Triceps hyperreflexia2FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0033206Hyperactive Achilles reflex2FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0007083Hyperactive patellar reflex2FANCB CL E G H218784ORPHA06333583300515
HP:0001347HP:0011448Ankle clonus2FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0011728Elbow clonus2FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0011449Knee clonus2FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0033205Biceps hyperreflexia2FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0033203Brachioradialis hyperreflexia2FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0033204Triceps hyperreflexia2FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0033206Hyperactive Achilles reflex2FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0007083Hyperactive patellar reflex2FANCC CL E G H217684ORPHA017433584613899
HP:0001347HP:0011448Ankle clonus2FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0011728Elbow clonus2FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0011449Knee clonus2FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0033205Biceps hyperreflexia2FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0033203Brachioradialis hyperreflexia2FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0033204Triceps hyperreflexia2FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0033206Hyperactive Achilles reflex2FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0007083Hyperactive patellar reflex2FANCD2 CL E G H217784ORPHA012623585613984
HP:0001347HP:0011448Ankle clonus2FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0011728Elbow clonus2FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0011449Knee clonus2FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0033205Biceps hyperreflexia2FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0033203Brachioradialis hyperreflexia2FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0033204Triceps hyperreflexia2FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0033206Hyperactive Achilles reflex2FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0007083Hyperactive patellar reflex2FANCE CL E G H217884ORPHA05273586613976
HP:0001347HP:0011448Ankle clonus2FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0011728Elbow clonus2FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0011449Knee clonus2FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0033205Biceps hyperreflexia2FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0033203Brachioradialis hyperreflexia2FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0033204Triceps hyperreflexia2FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0033206Hyperactive Achilles reflex2FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0007083Hyperactive patellar reflex2FANCF CL E G H218884ORPHA04343587613897
HP:0001347HP:0011448Ankle clonus2FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0011728Elbow clonus2FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0011449Knee clonus2FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0033205Biceps hyperreflexia2FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0033203Brachioradialis hyperreflexia2FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0033204Triceps hyperreflexia2FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0033206Hyperactive Achilles reflex2FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0007083Hyperactive patellar reflex2FANCG CL E G H218984ORPHA07903588602956
HP:0001347HP:0011448Ankle clonus2FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0011728Elbow clonus2FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0011449Knee clonus2FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0033205Biceps hyperreflexia2FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0033203Brachioradialis hyperreflexia2FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0033204Triceps hyperreflexia2FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0033206Hyperactive Achilles reflex2FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0007083Hyperactive patellar reflex2FANCI CL E G H5521584ORPHA0150625568611360
HP:0001347HP:0011448Ankle clonus2FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0011728Elbow clonus2FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0011449Knee clonus2FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0033205Biceps hyperreflexia2FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0033203Brachioradialis hyperreflexia2FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0033204Triceps hyperreflexia2FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0033206Hyperactive Achilles reflex2FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0007083Hyperactive patellar reflex2FANCL CL E G H5512084ORPHA054220748608111
HP:0001347HP:0011448Ankle clonus2FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0011728Elbow clonus2FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0011449Knee clonus2FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0033205Biceps hyperreflexia2FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0033203Brachioradialis hyperreflexia2FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0033204Triceps hyperreflexia2FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0033206Hyperactive Achilles reflex2FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0007083Hyperactive patellar reflex2FANCM CL E G H5769784ORPHA0204523168609644
HP:0001347HP:0011448Ankle clonus2FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0011728Elbow clonus2FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0011449Knee clonus2FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0033205Biceps hyperreflexia2FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0033203Brachioradialis hyperreflexia2FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0033204Triceps hyperreflexia2FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0033206Hyperactive Achilles reflex2FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0007083Hyperactive patellar reflex2FAS CL E G H355117ORPHA038711920134637
HP:0001347HP:0011448Ankle clonus2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0011728Elbow clonus2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0011449Knee clonus2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0033205Biceps hyperreflexia2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0033203Brachioradialis hyperreflexia2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0033204Triceps hyperreflexia2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0033206Hyperactive Achilles reflex2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0007083Hyperactive patellar reflex2FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05803960607643
HP:0001347HP:0011448Ankle clonus2GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0011728Elbow clonus2GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0011449Knee clonus2GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0033205Biceps hyperreflexia2GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0033203Brachioradialis hyperreflexia2GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0033204Triceps hyperreflexia2GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0033206Hyperactive Achilles reflex2GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0007083Hyperactive patellar reflex2GARS CL E G H2617139536ORPHA04162600287
HP:0001347HP:0011448Ankle clonus2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0011728Elbow clonus2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0011449Knee clonus2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0033205Biceps hyperreflexia2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0033203Brachioradialis hyperreflexia2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0033204Triceps hyperreflexia2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0033206Hyperactive Achilles reflex2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0007083Hyperactive patellar reflex2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM04162600287
HP:0001347HP:0011448Ankle clonus2GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0011728Elbow clonus2GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0011449Knee clonus2GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0033205Biceps hyperreflexia2GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0033203Brachioradialis hyperreflexia2GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0033204Triceps hyperreflexia2GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0033206Hyperactive Achilles reflex2GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0007083Hyperactive patellar reflex2GBA2 CL E G H57704320391ORPHA035518986609471
HP:0001347HP:0011448Ankle clonus2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0011728Elbow clonus2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0011449Knee clonus2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0033205Biceps hyperreflexia2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0033203Brachioradialis hyperreflexia2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0033204Triceps hyperreflexia2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0033206Hyperactive Achilles reflex2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0007083Hyperactive patellar reflex2GMPPA CL E G H29926869ORPHA015022923615495
HP:0001347HP:0011448Ankle clonus2GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0011728Elbow clonus2GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0011449Knee clonus2GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0033205Biceps hyperreflexia2GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0033203Brachioradialis hyperreflexia2GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0033204Triceps hyperreflexia2GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0033206Hyperactive Achilles reflex2GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0007083Hyperactive patellar reflex2GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM02414576602368
HP:0001347HP:0011448Ankle clonus2GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0011728Elbow clonus2GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0011449Knee clonus2GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0033205Biceps hyperreflexia2GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0033203Brachioradialis hyperreflexia2GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0033204Triceps hyperreflexia2GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0033206Hyperactive Achilles reflex2GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0007083Hyperactive patellar reflex2GRN CL E G H2896275864ORPHA05944601138945
HP:0001347HP:0011448Ankle clonus2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0011728Elbow clonus2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0011449Knee clonus2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0033205Biceps hyperreflexia2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0033203Brachioradialis hyperreflexia2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0033204Triceps hyperreflexia2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0033206Hyperactive Achilles reflex2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0007083Hyperactive patellar reflex2GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02154679602275
HP:0001347HP:0011448Ankle clonus2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0011728Elbow clonus2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0011449Knee clonus2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0033205Biceps hyperreflexia2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0033203Brachioradialis hyperreflexia2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0033204Triceps hyperreflexia2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0033206Hyperactive Achilles reflex2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0007083Hyperactive patellar reflex2HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0104926527610453
HP:0001347HP:0011448Ankle clonus2HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0011728Elbow clonus2HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0011449Knee clonus2HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0033205Biceps hyperreflexia2HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0033203Brachioradialis hyperreflexia2HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0033204Triceps hyperreflexia2HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0033206Hyperactive Achilles reflex2HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0007083Hyperactive patellar reflex2HLA-B CL E G H3106117ORPHA0294932142830
HP:0001347HP:0011448Ankle clonus2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0011728Elbow clonus2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0011449Knee clonus2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0033205Biceps hyperreflexia2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0033203Brachioradialis hyperreflexia2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0033204Triceps hyperreflexia2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0033206Hyperactive Achilles reflex2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0007083Hyperactive patellar reflex2HUWE1 CL E G H1007585328ORPHA0128530892300697
HP:0001347HP:0011448Ankle clonus2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0011728Elbow clonus2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0011449Knee clonus2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0033205Biceps hyperreflexia2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0033203Brachioradialis hyperreflexia2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0033204Triceps hyperreflexia2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0033206Hyperactive Achilles reflex2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0007083Hyperactive patellar reflex2IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02995385604526
HP:0001347HP:0011448Ankle clonus2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0011728Elbow clonus2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0011449Knee clonus2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0033205Biceps hyperreflexia2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0033203Brachioradialis hyperreflexia2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0033204Triceps hyperreflexia2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0033206Hyperactive Achilles reflex2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0007083Hyperactive patellar reflex2IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0168629077614620
HP:0001347HP:0011448Ankle clonus2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0011728Elbow clonus2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0011449Knee clonus2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0033205Biceps hyperreflexia2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0033203Brachioradialis hyperreflexia2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0033204Triceps hyperreflexia2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0033206Hyperactive Achilles reflex2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0007083Hyperactive patellar reflex2IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0135630391607386
HP:0001347HP:0011448Ankle clonus2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0011728Elbow clonus2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0011449Knee clonus2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0033205Biceps hyperreflexia2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0033203Brachioradialis hyperreflexia2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0033204Triceps hyperreflexia2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0033206Hyperactive Achilles reflex2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0007083Hyperactive patellar reflex2IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA039020606600595
HP:0001347HP:0011448Ankle clonus2IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0011728Elbow clonus2IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0011449Knee clonus2IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0033205Biceps hyperreflexia2IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0033203Brachioradialis hyperreflexia2IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0033204Triceps hyperreflexia2IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0033206Hyperactive Achilles reflex2IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0007083Hyperactive patellar reflex2IL10 CL E G H3586117ORPHA01235962124092
HP:0001347HP:0011448Ankle clonus2IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0011728Elbow clonus2IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0011449Knee clonus2IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0033205Biceps hyperreflexia2IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0033203Brachioradialis hyperreflexia2IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0033204Triceps hyperreflexia2IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0033206Hyperactive Achilles reflex2IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0007083Hyperactive patellar reflex2IL12A CL E G H3592117ORPHA0345969161560
HP:0001347HP:0011448Ankle clonus2IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0011728Elbow clonus2IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0011449Knee clonus2IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0033205Biceps hyperreflexia2IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0033203Brachioradialis hyperreflexia2IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0033204Triceps hyperreflexia2IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0033206Hyperactive Achilles reflex2IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0007083Hyperactive patellar reflex2IL12A-AS1 CL E G H101928376117ORPHA018490940
HP:0001347HP:0011448Ankle clonus2IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0011728Elbow clonus2IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0011449Knee clonus2IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0033205Biceps hyperreflexia2IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0033203Brachioradialis hyperreflexia2IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0033204Triceps hyperreflexia2IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0033206Hyperactive Achilles reflex2IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0007083Hyperactive patellar reflex2IL23R CL E G H149233117ORPHA024119100607562
HP:0001347HP:0011448Ankle clonus2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0011728Elbow clonus2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0011449Knee clonus2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0033205Biceps hyperreflexia2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0033203Brachioradialis hyperreflexia2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0033204Triceps hyperreflexia2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0033206Hyperactive Achilles reflex2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0007083Hyperactive patellar reflex2IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA05426052146690
HP:0001347HP:0011448Ankle clonus2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0011728Elbow clonus2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0011449Knee clonus2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0033205Biceps hyperreflexia2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0033203Brachioradialis hyperreflexia2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0033204Triceps hyperreflexia2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0033206Hyperactive Achilles reflex2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0007083Hyperactive patellar reflex2IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA090918362607056
HP:0001347HP:0011448Ankle clonus2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0011728Elbow clonus2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0011449Knee clonus2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0033205Biceps hyperreflexia2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0033203Brachioradialis hyperreflexia2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0033204Triceps hyperreflexia2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0033206Hyperactive Achilles reflex2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0007083Hyperactive patellar reflex2JPH3 CL E G H5733898934ORPHA017614203605268
HP:0001347HP:0011448Ankle clonus2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0011728Elbow clonus2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0011449Knee clonus2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0033205Biceps hyperreflexia2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0033203Brachioradialis hyperreflexia2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0033204Triceps hyperreflexia2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0033206Hyperactive Achilles reflex2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0007083Hyperactive patellar reflex2KATNB1 CL E G H10300616212Lissencephaly 6, with microcephaly616212C4015525OMIM03146217602703
HP:0001347HP:0011448Ankle clonus2KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0011728Elbow clonus2KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0011449Knee clonus2KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0033205Biceps hyperreflexia2KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0033203Brachioradialis hyperreflexia2KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0033204Triceps hyperreflexia2KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0033206Hyperactive Achilles reflex2KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0007083Hyperactive patellar reflex2KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM04676239605411
HP:0001347HP:0011448Ankle clonus2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0011728Elbow clonus2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0011449Knee clonus2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0033205Biceps hyperreflexia2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0033203Brachioradialis hyperreflexia2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0033204Triceps hyperreflexia2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0033206Hyperactive Achilles reflex2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0007083Hyperactive patellar reflex2KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0132722219613344
HP:0001347HP:0011448Ankle clonus2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0011728Elbow clonus2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0011449Knee clonus2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0033205Biceps hyperreflexia2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0033203Brachioradialis hyperreflexia2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0033204Triceps hyperreflexia2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0033206Hyperactive Achilles reflex2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0007083Hyperactive patellar reflex2KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA041615865615757
HP:0001347HP:0011448Ankle clonus2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0011728Elbow clonus2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0011449Knee clonus2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0033205Biceps hyperreflexia2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0033203Brachioradialis hyperreflexia2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0033204Triceps hyperreflexia2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0033206Hyperactive Achilles reflex2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0007083Hyperactive patellar reflex2KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA033715646611119
HP:0001347HP:0011448Ankle clonus2KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0011728Elbow clonus2KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0011449Knee clonus2KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0033205Biceps hyperreflexia2KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0033203Brachioradialis hyperreflexia2KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0033204Triceps hyperreflexia2KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0033206Hyperactive Achilles reflex2KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0007083Hyperactive patellar reflex2KLRC4 CL E G H8302117ORPHA0446377602893
HP:0001347HP:0011448Ankle clonus2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0011728Elbow clonus2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0011449Knee clonus2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0033205Biceps hyperreflexia2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0033203Brachioradialis hyperreflexia2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0033204Triceps hyperreflexia2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0033206Hyperactive Achilles reflex2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0007083Hyperactive patellar reflex2LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02426685604863
HP:0001347HP:0011448Ankle clonus2MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0011728Elbow clonus2MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0011449Knee clonus2MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0033205Biceps hyperreflexia2MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0033203Brachioradialis hyperreflexia2MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0033204Triceps hyperreflexia2MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0033206Hyperactive Achilles reflex2MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0007083Hyperactive patellar reflex2MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001347HP:0011448Ankle clonus2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0011728Elbow clonus2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0011449Knee clonus2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0033205Biceps hyperreflexia2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0033203Brachioradialis hyperreflexia2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0033204Triceps hyperreflexia2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0033206Hyperactive Achilles reflex2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0007083Hyperactive patellar reflex2MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA04456816154235
HP:0001347HP:0011448Ankle clonus2MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0011728Elbow clonus2MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0011449Knee clonus2MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0033205Biceps hyperreflexia2MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0033203Brachioradialis hyperreflexia2MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0033204Triceps hyperreflexia2MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0033206Hyperactive Achilles reflex2MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0007083Hyperactive patellar reflex2MAPT CL E G H4137275864ORPHA05816893157140
HP:0001347HP:0011448Ankle clonus2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0011728Elbow clonus2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0011449Knee clonus2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0033205Biceps hyperreflexia2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0033203Brachioradialis hyperreflexia2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0033204Triceps hyperreflexia2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0033206Hyperactive Achilles reflex2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0007083Hyperactive patellar reflex2MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM011315505606048
HP:0001347HP:0011448Ankle clonus2MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0011728Elbow clonus2MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0011449Knee clonus2MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0033205Biceps hyperreflexia2MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0033203Brachioradialis hyperreflexia2MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0033204Triceps hyperreflexia2MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0033206Hyperactive Achilles reflex2MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0007083Hyperactive patellar reflex2MEFV CL E G H4210117ORPHA010836998608107
HP:0001347HP:0011448Ankle clonus2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0011728Elbow clonus2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0011449Knee clonus2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0033205Biceps hyperreflexia2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0033203Brachioradialis hyperreflexia2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0033204Triceps hyperreflexia2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0033206Hyperactive Achilles reflex2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0007083Hyperactive patellar reflex2MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08157027604705
HP:0001347HP:0011448Ankle clonus2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0011728Elbow clonus2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0011449Knee clonus2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0033205Biceps hyperreflexia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0033203Brachioradialis hyperreflexia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0033204Triceps hyperreflexia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0033206Hyperactive Achilles reflex2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0007083Hyperactive patellar reflex2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001347HP:0011448Ankle clonus2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0011728Elbow clonus2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0011449Knee clonus2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0033205Biceps hyperreflexia2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0033203Brachioradialis hyperreflexia2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0033204Triceps hyperreflexia2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0033206Hyperactive Achilles reflex2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0007083Hyperactive patellar reflex2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA07489590060
HP:0001347HP:0011448Ankle clonus2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0011728Elbow clonus2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0011449Knee clonus2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0033205Biceps hyperreflexia2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0033203Brachioradialis hyperreflexia2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0033204Triceps hyperreflexia2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0033206Hyperactive Achilles reflex2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0007083Hyperactive patellar reflex2NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02167745604043
HP:0001347HP:0011448Ankle clonus2NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0011728Elbow clonus2NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0011449Knee clonus2NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0033205Biceps hyperreflexia2NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0033203Brachioradialis hyperreflexia2NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0033204Triceps hyperreflexia2NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0033206Hyperactive Achilles reflex2NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0007083Hyperactive patellar reflex2NOP56 CL E G H10528276198ORPHA06715911614154
HP:0001347HP:0011448Ankle clonus2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0011728Elbow clonus2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0011449Knee clonus2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0033205Biceps hyperreflexia2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0033203Brachioradialis hyperreflexia2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0033204Triceps hyperreflexia2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0033206Hyperactive Achilles reflex2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0007083Hyperactive patellar reflex2NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM06715911614154
HP:0001347HP:0011448Ankle clonus2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0011728Elbow clonus2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0011449Knee clonus2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0033205Biceps hyperreflexia2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0033203Brachioradialis hyperreflexia2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0033204Triceps hyperreflexia2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0033206Hyperactive Achilles reflex2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0007083Hyperactive patellar reflex2NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA06077974604485
HP:0001347HP:0011448Ankle clonus2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0011728Elbow clonus2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0011449Knee clonus2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0033205Biceps hyperreflexia2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0033203Brachioradialis hyperreflexia2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0033204Triceps hyperreflexia2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0033206Hyperactive Achilles reflex2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0007083Hyperactive patellar reflex2NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA03588002162080
HP:0001347HP:0011448Ankle clonus2NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0011728Elbow clonus2NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0011449Knee clonus2NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0033205Biceps hyperreflexia2NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0033203Brachioradialis hyperreflexia2NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0033204Triceps hyperreflexia2NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0033206Hyperactive Achilles reflex2NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0007083Hyperactive patellar reflex2NSD1 CL E G H64324821ORPHA0173414234606681
HP:0001347HP:0011448Ankle clonus2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0011728Elbow clonus2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0011449Knee clonus2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0033205Biceps hyperreflexia2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0033203Brachioradialis hyperreflexia2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0033204Triceps hyperreflexia2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0033206Hyperactive Achilles reflex2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0007083Hyperactive patellar reflex2OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010202567300170
HP:0001347HP:0011448Ankle clonus2PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0011728Elbow clonus2PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0011449Knee clonus2PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0033205Biceps hyperreflexia2PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0033203Brachioradialis hyperreflexia2PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0033204Triceps hyperreflexia2PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0033206Hyperactive Achilles reflex2PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0007083Hyperactive patellar reflex2PAH CL E G H505379254ORPHA014468582612349
HP:0001347HP:0011448Ankle clonus2PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0011728Elbow clonus2PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0011449Knee clonus2PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0033205Biceps hyperreflexia2PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0033203Brachioradialis hyperreflexia2PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0033204Triceps hyperreflexia2PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0033206Hyperactive Achilles reflex2PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0007083Hyperactive patellar reflex2PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001347HP:0011448Ankle clonus2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0011728Elbow clonus2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0011449Knee clonus2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0033205Biceps hyperreflexia2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0033203Brachioradialis hyperreflexia2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0033204Triceps hyperreflexia2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0033206Hyperactive Achilles reflex2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0007083Hyperactive patellar reflex2PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0102234383613425
HP:0001347HP:0011448Ankle clonus2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0011728Elbow clonus2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0011449Knee clonus2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0033205Biceps hyperreflexia2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0033203Brachioradialis hyperreflexia2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0033204Triceps hyperreflexia2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0033206Hyperactive Achilles reflex2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0007083Hyperactive patellar reflex2PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA08348785180071
HP:0001347HP:0011448Ankle clonus2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0011728Elbow clonus2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0011449Knee clonus2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0033205Biceps hyperreflexia2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0033203Brachioradialis hyperreflexia2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0033204Triceps hyperreflexia2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0033206Hyperactive Achilles reflex2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0007083Hyperactive patellar reflex2PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA011428786180072
HP:0001347HP:0011448Ankle clonus2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0011728Elbow clonus2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0011449Knee clonus2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0033205Biceps hyperreflexia2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0033203Brachioradialis hyperreflexia2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0033204Triceps hyperreflexia2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0033206Hyperactive Achilles reflex2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0007083Hyperactive patellar reflex2PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA01258789180073
HP:0001347HP:0011448Ankle clonus2PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0011728Elbow clonus2PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0011449Knee clonus2PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0033205Biceps hyperreflexia2PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0033203Brachioradialis hyperreflexia2PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0033204Triceps hyperreflexia2PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0033206Hyperactive Achilles reflex2PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0007083Hyperactive patellar reflex2PEX10 CL E G H5192247815ORPHA08038851602859
HP:0001347HP:0011448Ankle clonus2PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0011728Elbow clonus2PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0011449Knee clonus2PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0033205Biceps hyperreflexia2PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0033203Brachioradialis hyperreflexia2PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0033204Triceps hyperreflexia2PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0033206Hyperactive Achilles reflex2PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0007083Hyperactive patellar reflex2PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA010108967606097
HP:0001347HP:0011448Ankle clonus2PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0011728Elbow clonus2PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0011449Knee clonus2PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0033205Biceps hyperreflexia2PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0033203Brachioradialis hyperreflexia2PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0033204Triceps hyperreflexia2PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0033206Hyperactive Achilles reflex2PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0007083Hyperactive patellar reflex2PLG CL E G H534097231ORPHA02979071173350
HP:0001347HP:0011448Ankle clonus2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0011728Elbow clonus2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0011449Knee clonus2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0033205Biceps hyperreflexia2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0033203Brachioradialis hyperreflexia2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0033204Triceps hyperreflexia2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0033206Hyperactive Achilles reflex2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0007083Hyperactive patellar reflex2POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0117419139606822
HP:0001347HP:0011448Ankle clonus2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0011728Elbow clonus2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0011449Knee clonus2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0033205Biceps hyperreflexia2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0033204Triceps hyperreflexia2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0033206Hyperactive Achilles reflex2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0007083Hyperactive patellar reflex2PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA014432528610598
HP:0001347HP:0011448Ankle clonus2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0011728Elbow clonus2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0011449Knee clonus2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0033205Biceps hyperreflexia2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0033203Brachioradialis hyperreflexia2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0033204Triceps hyperreflexia2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0033206Hyperactive Achilles reflex2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0007083Hyperactive patellar reflex2PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA09289454604365
HP:0001347HP:0011448Ankle clonus2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0011728Elbow clonus2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0011449Knee clonus2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0033205Biceps hyperreflexia2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0033204Triceps hyperreflexia2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0033206Hyperactive Achilles reflex2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0007083Hyperactive patellar reflex2PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA032517348607301
HP:0001347HP:0011448Ankle clonus2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0011728Elbow clonus2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0011449Knee clonus2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0033205Biceps hyperreflexia2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0033204Triceps hyperreflexia2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0033206Hyperactive Achilles reflex2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0007083Hyperactive patellar reflex2PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA062915446606419
HP:0001347HP:0011448Ankle clonus2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0011728Elbow clonus2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0011449Knee clonus2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0033205Biceps hyperreflexia2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0033204Triceps hyperreflexia2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0033206Hyperactive Achilles reflex2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0007083Hyperactive patellar reflex2PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA030517349607795
HP:0001347HP:0011448Ankle clonus2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0011728Elbow clonus2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0011449Knee clonus2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0033205Biceps hyperreflexia2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0033204Triceps hyperreflexia2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0033206Hyperactive Achilles reflex2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0007083Hyperactive patellar reflex2PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058115860613979
HP:0001347HP:0011448Ankle clonus2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0011728Elbow clonus2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0011449Knee clonus2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0033205Biceps hyperreflexia2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0033204Triceps hyperreflexia2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0033206Hyperactive Achilles reflex2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0007083Hyperactive patellar reflex2PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0124017340607300
HP:0001347HP:0011448Ankle clonus2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0011728Elbow clonus2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0011449Knee clonus2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0033205Biceps hyperreflexia2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0033204Triceps hyperreflexia2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0033206Hyperactive Achilles reflex2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0007083Hyperactive patellar reflex2PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA07029942179605
HP:0001347HP:0011448Ankle clonus2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0011728Elbow clonus2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0011449Knee clonus2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0033205Biceps hyperreflexia2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0033203Brachioradialis hyperreflexia2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0033204Triceps hyperreflexia2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0033206Hyperactive Achilles reflex2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0007083Hyperactive patellar reflex2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM04159462311850
HP:0001347HP:0011448Ankle clonus2PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0011728Elbow clonus2PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0011449Knee clonus2PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0033205Biceps hyperreflexia2PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0033203Brachioradialis hyperreflexia2PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0033204Triceps hyperreflexia2PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0033206Hyperactive Achilles reflex2PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0007083Hyperactive patellar reflex2PSEN1 CL E G H5663275864ORPHA05019508104311
HP:0001347HP:0011448Ankle clonus2QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0011728Elbow clonus2QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0011449Knee clonus2QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0033205Biceps hyperreflexia2QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0033203Brachioradialis hyperreflexia2QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0033204Triceps hyperreflexia2QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0033206Hyperactive Achilles reflex2QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0007083Hyperactive patellar reflex2QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM09751603727
HP:0001347HP:0011448Ankle clonus2RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0011728Elbow clonus2RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0011449Knee clonus2RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0033205Biceps hyperreflexia2RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0033203Brachioradialis hyperreflexia2RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0033204Triceps hyperreflexia2RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0033206Hyperactive Achilles reflex2RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0007083Hyperactive patellar reflex2RAD51 CL E G H588884ORPHA03589817179617
HP:0001347HP:0011448Ankle clonus2RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0011728Elbow clonus2RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0011449Knee clonus2RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0033205Biceps hyperreflexia2RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0033203Brachioradialis hyperreflexia2RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0033204Triceps hyperreflexia2RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0033206Hyperactive Achilles reflex2RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0007083Hyperactive patellar reflex2RAD51C CL E G H588984ORPHA018279820602774
HP:0001347HP:0011448Ankle clonus2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0011728Elbow clonus2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0011449Knee clonus2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0033205Biceps hyperreflexia2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0033203Brachioradialis hyperreflexia2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0033204Triceps hyperreflexia2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0033206Hyperactive Achilles reflex2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0007083Hyperactive patellar reflex2RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA010389921180290
HP:0001347HP:0011448Ankle clonus2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0011728Elbow clonus2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0011449Knee clonus2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0033205Biceps hyperreflexia2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0033203Brachioradialis hyperreflexia2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0033204Triceps hyperreflexia2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0033206Hyperactive Achilles reflex2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0007083Hyperactive patellar reflex2RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049519977608830
HP:0001347HP:0011448Ankle clonus2REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0011728Elbow clonus2REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0011449Knee clonus2REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0033205Biceps hyperreflexia2REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0033203Brachioradialis hyperreflexia2REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0033204Triceps hyperreflexia2REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0033206Hyperactive Achilles reflex2REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0007083Hyperactive patellar reflex2REEP1 CL E G H65055139536ORPHA043425786609139
HP:0001347HP:0011448Ankle clonus2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0011728Elbow clonus2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0011449Knee clonus2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0033205Biceps hyperreflexia2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0033203Brachioradialis hyperreflexia2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0033204Triceps hyperreflexia2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0033206Hyperactive Achilles reflex2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0007083Hyperactive patellar reflex2REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA026630078609346
HP:0001347HP:0011448Ankle clonus2RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0011728Elbow clonus2RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0011449Knee clonus2RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0033205Biceps hyperreflexia2RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0033203Brachioradialis hyperreflexia2RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0033204Triceps hyperreflexia2RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0033206Hyperactive Achilles reflex2RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0007083Hyperactive patellar reflex2RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001347HP:0011448Ankle clonus2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0011728Elbow clonus2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0011449Knee clonus2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0033205Biceps hyperreflexia2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0033203Brachioradialis hyperreflexia2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0033204Triceps hyperreflexia2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0033206Hyperactive Achilles reflex2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0007083Hyperactive patellar reflex2RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA02799990600342
HP:0001347HP:0011448Ankle clonus2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0011728Elbow clonus2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0011449Knee clonus2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0033205Biceps hyperreflexia2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0033203Brachioradialis hyperreflexia2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0033204Triceps hyperreflexia2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0033206Hyperactive Achilles reflex2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0007083Hyperactive patellar reflex2RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053710012180380
HP:0001347HP:0011448Ankle clonus2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0011728Elbow clonus2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0011449Knee clonus2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0033205Biceps hyperreflexia2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0033203Brachioradialis hyperreflexia2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0033204Triceps hyperreflexia2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0033206Hyperactive Achilles reflex2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0007083Hyperactive patellar reflex2RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031410024180090
HP:0001347HP:0011448Ankle clonus2RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0011728Elbow clonus2RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0011449Knee clonus2RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0033205Biceps hyperreflexia2RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0033203Brachioradialis hyperreflexia2RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0033204Triceps hyperreflexia2RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0033206Hyperactive Achilles reflex2RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0007083Hyperactive patellar reflex2RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM018918466604123
HP:0001347HP:0011448Ankle clonus2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0011728Elbow clonus2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0011449Knee clonus2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0033205Biceps hyperreflexia2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0033203Brachioradialis hyperreflexia2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0033204Triceps hyperreflexia2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0033206Hyperactive Achilles reflex2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0007083Hyperactive patellar reflex2ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA031110254180721
HP:0001347HP:0011448Ankle clonus2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0011728Elbow clonus2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0011449Knee clonus2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0033205Biceps hyperreflexia2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0033203Brachioradialis hyperreflexia2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0033204Triceps hyperreflexia2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0033206Hyperactive Achilles reflex2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0007083Hyperactive patellar reflex2RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0131810263603937
HP:0001347HP:0011448Ankle clonus2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0011728Elbow clonus2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0011449Knee clonus2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0033205Biceps hyperreflexia2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0033203Brachioradialis hyperreflexia2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0033204Triceps hyperreflexia2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0033206Hyperactive Achilles reflex2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0007083Hyperactive patellar reflex2RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA048410274300757
HP:0001347HP:0011448Ankle clonus2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0011728Elbow clonus2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0011449Knee clonus2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0033205Biceps hyperreflexia2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0033203Brachioradialis hyperreflexia2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0033204Triceps hyperreflexia2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0033206Hyperactive Achilles reflex2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0007083Hyperactive patellar reflex2RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA013210288607331
HP:0001347HP:0011448Ankle clonus2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0011728Elbow clonus2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0011449Knee clonus2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0033205Biceps hyperreflexia2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0033203Brachioradialis hyperreflexia2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0033204Triceps hyperreflexia2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0033206Hyperactive Achilles reflex2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0007083Hyperactive patellar reflex2RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA078310294180069
HP:0001347HP:0011448Ankle clonus2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0011728Elbow clonus2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0011449Knee clonus2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0033205Biceps hyperreflexia2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0033203Brachioradialis hyperreflexia2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0033204Triceps hyperreflexia2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0033206Hyperactive Achilles reflex2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0007083Hyperactive patellar reflex2RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0143310295312610
HP:0001347HP:0011448Ankle clonus2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0011728Elbow clonus2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0011449Knee clonus2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0033205Biceps hyperreflexia2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0033203Brachioradialis hyperreflexia2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0033204Triceps hyperreflexia2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0033206Hyperactive Achilles reflex2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0007083Hyperactive patellar reflex2SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043010521181031
HP:0001347HP:0011448Ankle clonus2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0011728Elbow clonus2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0011449Knee clonus2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0033205Biceps hyperreflexia2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0033203Brachioradialis hyperreflexia2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0033204Triceps hyperreflexia2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0033206Hyperactive Achilles reflex2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0007083Hyperactive patellar reflex2SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA015713081611611
HP:0001347HP:0011448Ankle clonus2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0011728Elbow clonus2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0011449Knee clonus2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0033205Biceps hyperreflexia2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0033203Brachioradialis hyperreflexia2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0033204Triceps hyperreflexia2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0033206Hyperactive Achilles reflex2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0007083Hyperactive patellar reflex2SCYL1 CL E G H57410466794ORPHA012814372607982
HP:0001347HP:0011448Ankle clonus2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0011728Elbow clonus2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0011449Knee clonus2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0033205Biceps hyperreflexia2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0033203Brachioradialis hyperreflexia2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0033204Triceps hyperreflexia2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0033206Hyperactive Achilles reflex2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0007083Hyperactive patellar reflex2SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM012814372607982
HP:0001347HP:0011448Ankle clonus2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0011728Elbow clonus2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0011449Knee clonus2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0033205Biceps hyperreflexia2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0033203Brachioradialis hyperreflexia2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0033204Triceps hyperreflexia2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0033206Hyperactive Achilles reflex2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0007083Hyperactive patellar reflex2SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA053010729607292
HP:0001347HP:0011448Ankle clonus2SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0011728Elbow clonus2SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0011449Knee clonus2SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0033205Biceps hyperreflexia2SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0033203Brachioradialis hyperreflexia2SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0033204Triceps hyperreflexia2SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0033206Hyperactive Achilles reflex2SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0007083Hyperactive patellar reflex2SETD2 CL E G H29072821ORPHA0101318420612778
HP:0001347HP:0011448Ankle clonus2SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0011728Elbow clonus2SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0011449Knee clonus2SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0033205Biceps hyperreflexia2SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0033204Triceps hyperreflexia2SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0007083Hyperactive patellar reflex2SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM038525198610826
HP:0001347HP:0011448Ankle clonus2SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0011728Elbow clonus2SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0011449Knee clonus2SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0033205Biceps hyperreflexia2SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0033204Triceps hyperreflexia2SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0007083Hyperactive patellar reflex2SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0001347HP:0011448Ankle clonus2SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0011728Elbow clonus2SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0011449Knee clonus2SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0033205Biceps hyperreflexia2SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0033204Triceps hyperreflexia2SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0007083Hyperactive patellar reflex2SLC46A1 CL E G H11323590045ORPHA032930521611672
HP:0001347HP:0011448Ankle clonus2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0011728Elbow clonus2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0011449Knee clonus2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0033205Biceps hyperreflexia2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0033204Triceps hyperreflexia2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0033206Hyperactive Achilles reflex2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0007083Hyperactive patellar reflex2SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA046129326615720
HP:0001347HP:0011448Ankle clonus2SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0011728Elbow clonus2SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0011449Knee clonus2SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0033205Biceps hyperreflexia2SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0033203Brachioradialis hyperreflexia2SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0033204Triceps hyperreflexia2SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0033206Hyperactive Achilles reflex2SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0007083Hyperactive patellar reflex2SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001347HP:0011448Ankle clonus2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0011728Elbow clonus2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0011449Knee clonus2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0033205Biceps hyperreflexia2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0033203Brachioradialis hyperreflexia2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0033204Triceps hyperreflexia2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0033206Hyperactive Achilles reflex2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0007083Hyperactive patellar reflex2SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0107330859601664
HP:0001347HP:0011448Ankle clonus2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0011728Elbow clonus2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0011449Knee clonus2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0033205Biceps hyperreflexia2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0033204Triceps hyperreflexia2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0033206Hyperactive Achilles reflex2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0007083Hyperactive patellar reflex2SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA043220423609868
HP:0001347HP:0011448Ankle clonus2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0011728Elbow clonus2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0011449Knee clonus2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0033205Biceps hyperreflexia2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0033204Triceps hyperreflexia2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0033206Hyperactive Achilles reflex2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0007083Hyperactive patellar reflex2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA0262511226610844
HP:0001347HP:0011448Ankle clonus2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0011728Elbow clonus2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0011449Knee clonus2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0033205Biceps hyperreflexia2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0033203Brachioradialis hyperreflexia2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0033204Triceps hyperreflexia2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0033206Hyperactive Achilles reflex2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0007083Hyperactive patellar reflex2SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM093811276604985
HP:0001347HP:0011448Ankle clonus2SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0011728Elbow clonus2SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0011449Knee clonus2SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0033205Biceps hyperreflexia2SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0033203Brachioradialis hyperreflexia2SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0033204Triceps hyperreflexia2SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0033206Hyperactive Achilles reflex2SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0007083Hyperactive patellar reflex2SQSTM1 CL E G H8878275864ORPHA067711280601530
HP:0001347HP:0011448Ankle clonus2STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0011728Elbow clonus2STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0011449Knee clonus2STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0033205Biceps hyperreflexia2STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0033203Brachioradialis hyperreflexia2STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0033204Triceps hyperreflexia2STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0033206Hyperactive Achilles reflex2STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0007083Hyperactive patellar reflex2STAT4 CL E G H6775117ORPHA030711365600558
HP:0001347HP:0011448Ankle clonus2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0011728Elbow clonus2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0011449Knee clonus2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0033205Biceps hyperreflexia2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0033203Brachioradialis hyperreflexia2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0033204Triceps hyperreflexia2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0033206Hyperactive Achilles reflex2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0007083Hyperactive patellar reflex2TBX4 CL E G H9496261279ORPHA027411603601719
HP:0001347HP:0011448Ankle clonus2TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0011728Elbow clonus2TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0011449Knee clonus2TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0033205Biceps hyperreflexia2TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0033203Brachioradialis hyperreflexia2TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0033204Triceps hyperreflexia2TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0033206Hyperactive Achilles reflex2TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0007083Hyperactive patellar reflex2TLR4 CL E G H7099117ORPHA08311850603030
HP:0001347HP:0011448Ankle clonus2TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0011728Elbow clonus2TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0011449Knee clonus2TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0033205Biceps hyperreflexia2TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0033203Brachioradialis hyperreflexia2TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0033204Triceps hyperreflexia2TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0033206Hyperactive Achilles reflex2TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0007083Hyperactive patellar reflex2TMEM106B CL E G H54664275864ORPHA012822407613413
HP:0001347HP:0011448Ankle clonus2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0011728Elbow clonus2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0011449Knee clonus2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0033205Biceps hyperreflexia2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0033203Brachioradialis hyperreflexia2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0033204Triceps hyperreflexia2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0033206Hyperactive Achilles reflex2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0007083Hyperactive patellar reflex2TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058321653609507
HP:0001347HP:0011448Ankle clonus2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0011728Elbow clonus2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0011449Knee clonus2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0033205Biceps hyperreflexia2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0033203Brachioradialis hyperreflexia2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0033204Triceps hyperreflexia2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0033206Hyperactive Achilles reflex2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0007083Hyperactive patellar reflex2TRAPPC11 CL E G H60684869ORPHA098325751614138
HP:0001347HP:0011448Ankle clonus2TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0011728Elbow clonus2TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0011449Knee clonus2TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0033205Biceps hyperreflexia2TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0033203Brachioradialis hyperreflexia2TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0033204Triceps hyperreflexia2TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0033206Hyperactive Achilles reflex2TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0007083Hyperactive patellar reflex2TREM2 CL E G H54209275864ORPHA015417761605086
HP:0001347HP:0011448Ankle clonus2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0011728Elbow clonus2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0011449Knee clonus2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0033205Biceps hyperreflexia2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0033203Brachioradialis hyperreflexia2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0033204Triceps hyperreflexia2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0033206Hyperactive Achilles reflex2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0007083Hyperactive patellar reflex2TSEN15 CL E G H116461617026Pontocerebellar hypoplasia, type 2f617026C4310757OMIM06516791608756
HP:0001347HP:0011448Ankle clonus2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0011728Elbow clonus2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0011449Knee clonus2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0033205Biceps hyperreflexia2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0033203Brachioradialis hyperreflexia2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0033204Triceps hyperreflexia2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0033206Hyperactive Achilles reflex2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0007083Hyperactive patellar reflex2TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM034326006613814
HP:0001347HP:0011448Ankle clonus2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0011728Elbow clonus2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0011449Knee clonus2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0033205Biceps hyperreflexia2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0033203Brachioradialis hyperreflexia2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0033204Triceps hyperreflexia2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0033206Hyperactive Achilles reflex2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0007083Hyperactive patellar reflex2TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA042720087608132
HP:0001347HP:0011448Ankle clonus2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0011728Elbow clonus2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0011449Knee clonus2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0033205Biceps hyperreflexia2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0033203Brachioradialis hyperreflexia2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0033204Triceps hyperreflexia2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0033206Hyperactive Achilles reflex2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0007083Hyperactive patellar reflex2TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA047712406601197
HP:0001347HP:0011448Ankle clonus2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0011728Elbow clonus2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0011449Knee clonus2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0033205Biceps hyperreflexia2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0033203Brachioradialis hyperreflexia2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0033204Triceps hyperreflexia2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0033206Hyperactive Achilles reflex2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0007083Hyperactive patellar reflex2TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA058712423602280
HP:0001347HP:0011448Ankle clonus2UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0011728Elbow clonus2UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0011449Knee clonus2UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0033205Biceps hyperreflexia2UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0033203Brachioradialis hyperreflexia2UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0033204Triceps hyperreflexia2UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0033206Hyperactive Achilles reflex2UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0007083Hyperactive patellar reflex2UBAC2 CL E G H337867117ORPHA0126204860
HP:0001347HP:0011448Ankle clonus2UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0011728Elbow clonus2UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0011449Knee clonus2UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0033205Biceps hyperreflexia2UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0033203Brachioradialis hyperreflexia2UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0033204Triceps hyperreflexia2UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0033206Hyperactive Achilles reflex2UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0007083Hyperactive patellar reflex2UBE2T CL E G H2908984ORPHA04525009610538
HP:0001347HP:0011448Ankle clonus2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0011728Elbow clonus2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0011449Knee clonus2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0033205Biceps hyperreflexia2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0033203Brachioradialis hyperreflexia2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0033204Triceps hyperreflexia2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0033206Hyperactive Achilles reflex2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0007083Hyperactive patellar reflex2USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA0704012601608400
HP:0001347HP:0011448Ankle clonus2VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0011728Elbow clonus2VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0011449Knee clonus2VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0033205Biceps hyperreflexia2VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0033203Brachioradialis hyperreflexia2VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0033204Triceps hyperreflexia2VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0033206Hyperactive Achilles reflex2VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0007083Hyperactive patellar reflex2VCP CL E G H7415275864ORPHA060712666601023
HP:0001347HP:0011448Ankle clonus2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0011728Elbow clonus2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0011449Knee clonus2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0033205Biceps hyperreflexia2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0033203Brachioradialis hyperreflexia2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0033204Triceps hyperreflexia2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0033206Hyperactive Achilles reflex2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0007083Hyperactive patellar reflex2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001347HP:0011448Ankle clonus2XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0011728Elbow clonus2XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0011449Knee clonus2XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0033205Biceps hyperreflexia2XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0033203Brachioradialis hyperreflexia2XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0033204Triceps hyperreflexia2XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0033206Hyperactive Achilles reflex2XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0007083Hyperactive patellar reflex2XRCC2 CL E G H751684ORPHA069712829600375
HP:0001347HP:0011448Ankle clonus2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0011728Elbow clonus2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0011449Knee clonus2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0033205Biceps hyperreflexia2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0033203Brachioradialis hyperreflexia2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0033204Triceps hyperreflexia2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0033206Hyperactive Achilles reflex2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0007083Hyperactive patellar reflex2ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA049420041616454
HP:0001347HP:0011448Ankle clonus2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0011728Elbow clonus2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0011449Knee clonus2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0033205Biceps hyperreflexia2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0033203Brachioradialis hyperreflexia2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0033204Triceps hyperreflexia2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0033206Hyperactive Achilles reflex2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598
HP:0001347HP:0007083Hyperactive patellar reflex2ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA037626498613598


Genes (586) :AAAS ABAT ABCA4 ABCB7 ABCC8 ABHD12 ACOX1 ACSL4 ACTA1 ADAR ADCY5 ADGRG1 ADSL AFG3L2 AGBL5 AHI1 AHR ALDH18A1 ALG2 ALG3 ALG9 ALS2 AMPD2 AMT ANKLE2 ANO10 AP1S2 AP4B1 AP4E1 AP4M1 AP4S1 AP5Z1 APC2 ARHGEF18 ARL2BP ARL3 ARL6 ARL6IP1 ARSA ARX ASNS ASPM ATAD1 ATL1 ATP13A2 ATP6 ATP6AP2 ATP6V1A ATP8A2 ATRX ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH B4GALNT1 BAZ1B BBS2 BCS1L BEAN1 BEST1 BICD2 BRAT1 BRCA1 BRCA2 BRIP1 BSCL2 C12ORF65 C12orf65 C19ORF12 C19orf12 C4A C8ORF37 C9ORF72 CA4 CA8 CACNA1A CACNA1E CACNA1G CAMTA1 CAPN1 CASK CAV1 CC2D2A CCDC88A CCDC88C CCR1 CCT5 CDHR1 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63 CERKL CHCHD2 CHMP1A CHMP2B CIT CLIP2 CLP1 CLRN1 CNGA1 CNGB1 CNNM2 CNTNAP1 COG4 COPB2 COQ8A COQ9 COX1 COX10 COX15 COX2 COX3 CPT1C CRAT CRB1 CREBBP CRX CSF1R CTNNA2 CTSF CYFIP2 CYP27A1 CYP2U1 CYP7B1 DARS DARS2 DCC DDC DDHD1 DDHD2 DENND5A DGUOK DHDDS DHX38 DKK1 DLAT DNMT1 DPAGT1 DPM1 DSTYK ECHS1 EEF2 EGF EIF2S3 ELN ELOVL4 ELP2 EP300 ERAP1 ERCC1 ERCC3 ERCC4 ERLIN1 ERLIN2 EXOSC3 EXOSC9 EYA1 EYS FA2H FAM126A FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAS FBXO7 FLRT1 FOXRED1 FRMPD4 FSCN2 FTL FUS GAD1 GALC GAMT GAN GARS GBA GBA2 GCH1 GCSH GFM1 GJA1 GJB1 GJC2 GLDC GLRA1 GLRB GLRX5 GLUL GLYCTK GM2A GMPPA GNAQ GPAA1 GPHN GPT2 GRID2 GRIN1 GRM1 GRN GTF2I GTF2IRD1 GTPBP2 GUCA1B HARS HEXB HGSNAT HIKESHI HLA-B HPRT1 HRAS HSPD1 HTRA1 HTT HUWE1 IBA57 IDH3B IER3IP1 IFRD1 IFT140 IFT172 IFT88 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG2 INPP5E ISCA1 ISCA2 ITPR1 JAM3 JPH3 KATNB1 KCNA1 KCNC3 KCND3 KCNJ6 KCNT1 KDM5C KIAA1549 KIDINS220 KIF14 KIF1A KIF1C KIF5A KIZ KLC2 KLHL7 KLRC4 KNL1 KRAS KY L1CAM LARGE1 LBR LIMK1 LINS1 LIPT1 LMNB1 LRAT LYRM7 MAD2L2 MAK MAN2B1 MAPT MARS2 MAT1A MATR3 MBOAT7 MCCC1 MCCC2 MCOLN1 MCPH1 MECP2 MECR MED17 MEFV MERTK MFF MFN2 MFSD2A MLXIPL MRE11 MT-ATP6 MTFMT MTPAP NAGA NALCN NCAPD3 ND1 ND4 ND5 ND6 NDE1 NDP NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK2 NEU1 NIPA1 NKX6-2 NOP56 NR2E3 NRAS NRL NSD1 NSUN2 NT5C2 NTRK2 NUBPL NUP62 OCLN OCRL OFD1 OPA1 OPA3 OSTM1 PAH PALB2 PANK2 PAX1 PC PCARE PCDH12 PCLO PDE6A PDE6B PDE6G PDE8B PDGFB PDGFRB PDHA1 PDYN PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PGAP1 PHC1 PIGA PIGN PIGP PIGT PINK1 PLA2G6 PLCB1 PLG PLP1 PLPBP PMP22 PMPCA PNPLA6 POLR3A POLR3B POMGNT1 PPP1R15B PPP2R2B PQBP1 PRCD PRDM8 PRKCG PRKN PRKRA PRNP PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRPS1 PRRT2 PRSS12 PRUNE1 PSAP PSEN1 PTS PYCR2 QARS RAB18 RAB3GAP1 RAD51 RAD51C RARS RARS2 RBP3 RDH12 REEP1 REEP2 REEP6 RFC2 RFT1 RFWD3 RGR RHO RLBP1 RLIM RNASEH1 RNASEH2C ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1L RTN2 RUBCN RUSC2 SACS SAG SAMD9L SASS6 SCAPER SCYL1 SDHA SDHAF1 SDHB SDHD SEMA4A SEPSECS SETD2 SETX SIGMAR1 SIK1 SLC16A2 SLC18A2 SLC19A3 SLC1A4 SLC20A2 SLC25A12 SLC25A15 SLC25A22 SLC25A46 SLC29A3 SLC2A1 SLC33A1 SLC39A14 SLC46A1 SLC52A3 SLC6A19 SLC6A5 SLC6A9 SLC7A14 SLX4 SMG9 SNCA SNRNP200 SOD1 SPART SPAST SPATA7 SPG11 SPG21 SPG7 SPR SPTAN1 SPTBN2 SQSTM1 ST3GAL5 STAT4 STIL STUB1 SUMF1 SURF1 TACO1 TAF13 TAF2 TANGO2 TBK1 TBL2 TBX4 TCTN2 TFG TGM6 TH TIMM50 TIMM8A TLR4 TMEM106B TMEM67 TOE1 TOPORS TPP1 TRAK1 TRAPPC11 TRAPPC6B TREM2 TREX1 TRMT5 TRNE TRNF TRNH TRNK TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNW TSEN15 TSEN2 TTBK2 TTC19 TTC8 TUB TUBB2B TULP1 UBAC2 UBE2T UBE3A UCHL1 UFC1 UQCRQ UROC1 USH2A USP8 VAC14 VAMP1 VCP VLDLR VPS13C VPS13D VPS37A VRK1 VWA3B WARS2 WASHC5 WDR62 WDR73 WDR81 WWOX XRCC2 ZFR ZFYVE26 ZFYVE27 ZNF408 ZNF513 ZNHIT3

Diseases (514) :869 231550 613163 791 2802 240800 612674 2971 300387 161800 225154 324588 606703 606854 219150 601162 616586 607906 601110 608776 293168 247604 205100 607225 300605 606353 401805 615686 605899 2512 613728 304340 280763 614066 613744 612936 614067 306511 821 250100 308350 300215 615574 618011 3197 613708 182600 513436 606693 617225 320360 300911 618012 1766 309580 164400 98761 603516 276241 276244 276238 94147 164500 98760 250950 101006 609195 904 256000 124000 363454 615290 618056 84 100998 139536 600794 615924 270685 320375 614298 615043 117 275864 98758 617106 618285 616795 618087 300749 216360 1454 617507 423275 616053 616710 614961 600795 617090 411493 615803 618186 263501 612016 614654 255241 444099 616282 617917 180849 221820 618174 615362 618008 909 270800 615281 611105 617542 608643 101008 609340 615033 617281 251880 245348 314404 604121 608093 101003 270750 85282 300148 194050 133190 617270 610758 610651 615681 611225 614678 618065 2792 610532 617046 171695 260300 300983 606159 603513 612736 256850 230900 320391 128230 609060 2710 613206 614619 401866 616859 610015 220120 309246 272750 3205 617810 615501 477673 616281 616204 614254 324262 614831 617988 268800 300322 2612 612233 605280 600142 248111 143100 85328 616451 617613 616370 98769 606658 613730 98934 606438 616212 160120 605259 98772 607346 435628 614098 85279 617296 2836 614255 610357 611302 604187 2466 614340 99027 169500 248500 314603 611390 250850 600 606070 617188 210200 210210 578 252650 300055 300673 617282 617086 609260 616486 254343 613672 609241 615419 605013 618240 618237 618226 618228 252010 618224 618222 256550 527497 276198 614153 117550 611091 320396 613162 617830 618242 1229 210000 258501 79254 261600 216873 216866 251280 608027 213600 101108 610245 44 247815 617370 401820 300868 280633 614080 617599 605909 199351 256600 612953 613722 97231 99015 312920 213200 139480 612020 447896 607694 614381 98762 604326 309500 324290 616640 605361 600116 210571 612067 137440 301835 249900 261640 616420 615760 600118 438114 616140 611523 615625 612015 300978 616479 610329 604805 615705 617773 270550 2585 466794 616719 252011 602433 614373 1935 59 300523 618049 616657 612949 616505 168569 53583 601042 606777 608885 90045 2116 234500 105400 275900 182601 602099 2822 604360 101001 248900 607259 70594 613477 352403 600224 615386 616437 617145 615599 616439 261279 616654 615658 276193 613908 304700 617964 614969 284324 609270 617862 616539 1349 617026 604432 615157 105830 615159 617054 251282 108600 224050 616840 607317 607596 616948 617710 603563 604317 251300 616211 401840 260565 301310 103050 101109 610246 447760 447753 447757 616603 615809 284289 100984 306674 363654 98755 98756 217012 614498 363400 615035 320370 289560 314647 488594 616907 606721 139578 256840 614696 34527 139485 550 320411 615030 268882 608799 101112 401785 320406 245200 352641 98808 164200 1175 302800 488333 616881 100994 614231 98771 98768 614959 300534 101010 397946 609541 496689 608840 169400 615838 613668 251347 649 100988 600363 534 300209 259720 266150 609161 617290 101081 616817 157941 98811 249500 617481 607822 13 101011 100993 159550 3208 613811 238970 71277 171863 612539 211500 617301 616920 100985 99013 35689 370938 609056 412057 272200 616878 101150 617698 618201 192315 2596 663 612389 618076 210128 401795 329475 319199 614898 100989 100996 270700 401780 615685 100986 171629 612319 614409 617435 468661 615398 614222 610250 617013 211530 101000 615768 615491 610244
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.