Human Phenotype Ontology 
Grandparent Node:
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Abnormal reflex (HP:0031826)help
Parent Node:
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Reduced tendon reflexes (HP:0001315)help
..Starting node
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Areflexia (HP:0001284)help
Term ID: 1284
Name: Areflexia
Synonym: Absent deep tendon reflexes; Absent reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes
Definition: Absence of neurologic reflexes such as the knee-jerk reaction.
Comments:
Reference: HP:0001284
Genes and Diseases:
 
       Child Nodes:
........expandAreflexia of lower limbs (HP:0002522) help
................... HP:0006844 Absent patellar reflexes
................... HP:0200101 Decreased/absent ankle reflexes
........expandAreflexia of upper limbs (HP:0012046) help
........expandHemiareflexia (HP:0031004) help

 Sister Nodes: 
..expandHyporeflexia (HP:0001265) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001284HP:0001284Areflexia0AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0001284HP:0001284Areflexia0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001284HP:0001284Areflexia0ABHD5 CL E G H5109998907ORPHA119421396604780
HP:0001284HP:0001284Areflexia0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001284HP:0001284Areflexia0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001284HP:0001284Areflexia0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0001284HP:0001284Areflexia0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0001284HP:0001284Areflexia0ADCY6 CL E G H112616287Lethal congenital contracture syndrome 8616287C4225385OMIM172237600294
HP:0001284HP:0001284Areflexia0AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0001284HP:0001284Areflexia0AIFM1 CL E G H9131101078ORPHA14878768300169
HP:0001284HP:0001284Areflexia0AIFM1 CL E G H9131300614Deafness, X-linked 5300614C1845095OMIM14878768300169
HP:0001284HP:0001284Areflexia0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0001284HP:0001284Areflexia0ALG14 CL E G H199857353327ORPHA110428287612866
HP:0001284HP:0001284Areflexia0ALG2 CL E G H85365353327ORPHA126223159607905
HP:0001284HP:0001284Areflexia0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM150523157604566
HP:0001284HP:0001284Areflexia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001284HP:0001284Areflexia0ARSI CL E G H340075401815ORPHA19732521610009
HP:0001284HP:0001284Areflexia0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0001284HP:0001284Areflexia0ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1272799182310
HP:0001284HP:0001284Areflexia0ATP1A3 CL E G H4781171ORPHA1790801182350
HP:0001284HP:0001284Areflexia0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1790801182350
HP:0001284HP:0001284Areflexia0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0001284HP:0001284Areflexia0B3GALNT2 CL E G H148789899ORPHA146228596610194
HP:0001284HP:0001284Areflexia0B4GAT1 CL E G H11041899ORPHA116615685605517
HP:0001284HP:0001284Areflexia0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM159017208609797
HP:0001284HP:0001284Areflexia0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0001284HP:0001284Areflexia0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001284HP:0001284Areflexia0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM169725695612800
HP:0001284HP:0001284Areflexia0CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM1641689107271
HP:0001284HP:0001284Areflexia0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001284HP:0001284Areflexia0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0001284HP:0001284Areflexia0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0001284HP:0001284Areflexia0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM124815559615903
HP:0001284HP:0001284Areflexia0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0001284HP:0001284Areflexia0CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM14762171600016
HP:0001284HP:0001284Areflexia0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001284HP:0001284Areflexia0COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0001284HP:0001284Areflexia0COL4A1 CL E G H1282899ORPHA112582202120130
HP:0001284HP:0001284Areflexia0COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1742277602072
HP:0001284HP:0001284Areflexia0DAG1 CL E G H1605899ORPHA14962666128239
HP:0001284HP:0001284Areflexia0DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0001284HP:0001284Areflexia0DNAJB2 CL E G H3300614881Spinal muscular atrophy, distal, autosomal recessive, 5614881C3553989OMIM12535228604139
HP:0001284HP:0001284Areflexia0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11059439601184
HP:0001284HP:0001284Areflexia0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM14452973603850
HP:0001284HP:0001284Areflexia0DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0001284HP:0001284Areflexia0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0001284HP:0001284Areflexia0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0001284HP:0001284Areflexia0DPAGT1 CL E G H1798353327ORPHA12582995191350
HP:0001284HP:0001284Areflexia0DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0001284HP:0001284Areflexia0EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0001284HP:0001284Areflexia0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0001284HP:0001284Areflexia0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM111703438609413
HP:0001284HP:0001284Areflexia0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM165919125611104
HP:0001284HP:0001284Areflexia0FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0001284HP:0001284Areflexia0FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM174916873609390
HP:0001284HP:0001284Areflexia0FKRP CL E G H79147899ORPHA178717997606596
HP:0001284HP:0001284Areflexia0FKTN CL E G H2218899ORPHA17833622607440
HP:0001284HP:0001284Areflexia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM17833622607440
HP:0001284HP:0001284Areflexia0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM144824682609144
HP:0001284HP:0001284Areflexia0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0001284HP:0001284Areflexia0GAN CL E G H8139643ORPHA16614137605379
HP:0001284HP:0001284Areflexia0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0001284HP:0001284Areflexia0GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0001284HP:0001284Areflexia0GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0001284HP:0001284Areflexia0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0001284HP:0001284Areflexia0GFPT1 CL E G H2673353327ORPHA14534241138292
HP:0001284HP:0001284Areflexia0GJB1 CL E G H2705101075ORPHA17974283304040
HP:0001284HP:0001284Areflexia0GMPPB CL E G H29925353327ORPHA127322932615320
HP:0001284HP:0001284Areflexia0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12724431604027
HP:0001284HP:0001284Areflexia0HADHA CL E G H3030746Apert like polydactyly syndromeORPHA16304801600890
HP:0001284HP:0001284Areflexia0HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12634803143450
HP:0001284HP:0001284Areflexia0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0001284HP:0001284Areflexia0HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0001284HP:0001284Areflexia0IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM117827302615316
HP:0001284HP:0001284Areflexia0IFRD1 CL E G H347598771ORPHA1525456603502
HP:0001284HP:0001284Areflexia0IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM19965542600502
HP:0001284HP:0001284Areflexia0INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1115023791610982
HP:0001284HP:0001284Areflexia0ISPD CL E G H729920899ORPHA164737276614631
HP:0001284HP:0001284Areflexia0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM164737276614631
HP:0001284HP:0001284Areflexia0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM113086188601920
HP:0001284HP:0001284Areflexia0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0001284HP:0001284Areflexia0KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM16215601421
HP:0001284HP:0001284Areflexia0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12132888601255
HP:0001284HP:0001284Areflexia0KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12132888601255
HP:0001284HP:0001284Areflexia0KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0001284HP:0001284Areflexia0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM132836482156225
HP:0001284HP:0001284Areflexia0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM132836482156225
HP:0001284HP:0001284Areflexia0LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM16776487150325
HP:0001284HP:0001284Areflexia0LARGE1 CL E G H9215899ORPHA16586511603590
HP:0001284HP:0001284Areflexia0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM16586511603590
HP:0001284HP:0001284Areflexia0LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0001284HP:0001284Areflexia0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0001284HP:0001284Areflexia0LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM140113345605518
HP:0001284HP:0001284Areflexia0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM170725135610933
HP:0001284HP:0001284Areflexia0LYST CL E G H1130167ORPHA117541968606897
HP:0001284HP:0001284Areflexia0MARS CL E G H4141616280Charcot-Marie-Tooth disease, axonal, type 2u616280C4084821OMIM16898156560
HP:0001284HP:0001284Areflexia0MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM17216946603294
HP:0001284HP:0001284Areflexia0MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0001284HP:0001284Areflexia0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0001284HP:0001284Areflexia0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0001284HP:0001284Areflexia0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0001284HP:0001284Areflexia0MME CL E G H4311497764ORPHA14227154120520
HP:0001284HP:0001284Areflexia0MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM14227154120520
HP:0001284HP:0001284Areflexia0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM158523573616661
HP:0001284HP:0001284Areflexia0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12007224137960
HP:0001284HP:0001284Areflexia0MPZ CL E G H43593115ORPHA15577225159440
HP:0001284HP:0001284Areflexia0MPZ CL E G H4359101082ORPHA15577225159440
HP:0001284HP:0001284Areflexia0MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM15577225159440
HP:0001284HP:0001284Areflexia0MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM15577225159440
HP:0001284HP:0001284Areflexia0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15577225159440
HP:0001284HP:0001284Areflexia0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15577225159440
HP:0001284HP:0001284Areflexia0MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM15577225159440
HP:0001284HP:0001284Areflexia0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0001284HP:0001284Areflexia0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15577225159440
HP:0001284HP:0001284Areflexia0MTM1 CL E G H4534596Albright like syndromeORPHA17207448300415
HP:0001284HP:0001284Areflexia0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0001284HP:0001284Areflexia0MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM185723212608568
HP:0001284HP:0001284Areflexia0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0001284HP:0001284Areflexia0NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM16427679605262
HP:0001284HP:0001284Areflexia0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0001284HP:0001284Areflexia0NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM15437739162280
HP:0001284HP:0001284Areflexia0NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM15437739162280
HP:0001284HP:0001284Areflexia0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM15437739162280
HP:0001284HP:0001284Areflexia0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA15088108300535
HP:0001284HP:0001284Areflexia0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM15088108300535
HP:0001284HP:0001284Areflexia0PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM119617759607429
HP:0001284HP:0001284Areflexia0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM112058850602136
HP:0001284HP:0001284Areflexia0PEX11B CL E G H8799614920Peroxisome biogenesis disorder 14B614920C3554055OMIM13508853603867
HP:0001284HP:0001284Areflexia0PEX12 CL E G H5193614859Peroxisome biogenesis disorder 3A614859C3553929OMIM13608854601758
HP:0001284HP:0001284Areflexia0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM13669717170993
HP:0001284HP:0001284Areflexia0PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM12718858603164
HP:0001284HP:0001284Areflexia0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0001284HP:0001284Areflexia0PIK3R5 CL E G H2353364753ORPHA14830035611317
HP:0001284HP:0001284Areflexia0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM14830035611317
HP:0001284HP:0001284Areflexia0PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM193429105611101
HP:0001284HP:0001284Areflexia0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0001284HP:0001284Areflexia0PMP22 CL E G H53763115ORPHA14539118601097
HP:0001284HP:0001284Areflexia0PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14539118601097
HP:0001284HP:0001284Areflexia0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14539118601097
HP:0001284HP:0001284Areflexia0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0001284HP:0001284Areflexia0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14539118601097
HP:0001284HP:0001284Areflexia0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM18759154605610
HP:0001284HP:0001284Areflexia0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM194316268603197
HP:0001284HP:0001284Areflexia0POLG CL E G H5428726ORPHA119179179174763
HP:0001284HP:0001284Areflexia0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0001284HP:0001284Areflexia0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0001284HP:0001284Areflexia0POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA119179179174763
HP:0001284HP:0001284Areflexia0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0001284HP:0001284Areflexia0POMGNT1 CL E G H55624899ORPHA194319139606822
HP:0001284HP:0001284Areflexia0POMGNT2 CL E G H84892899ORPHA134625902614828
HP:0001284HP:0001284Areflexia0POMK CL E G H84197899ORPHA124426267615247
HP:0001284HP:0001284Areflexia0POMT1 CL E G H10585899ORPHA17379202607423
HP:0001284HP:0001284Areflexia0POMT2 CL E G H29954899ORPHA176619743607439
HP:0001284HP:0001284Areflexia0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0001284HP:0001284Areflexia0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0001284HP:0001284Areflexia0PRPS1 CL E G H563199014ORPHA13609462311850
HP:0001284HP:0001284Areflexia0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13609462311850
HP:0001284HP:0001284Areflexia0PRPS1 CL E G H56311187Cerebellar agenesisORPHA13609462311850
HP:0001284HP:0001284Areflexia0PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM1107913797605725
HP:0001284HP:0001284Areflexia0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0001284HP:0001284Areflexia0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0001284HP:0001284Areflexia0RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11769788602298
HP:0001284HP:0001284Areflexia0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM111499834607642
HP:0001284HP:0001284Areflexia0REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM137725786609139
HP:0001284HP:0001284Areflexia0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM145325964613114
HP:0001284HP:0001284Areflexia0RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM145325964613114
HP:0001284HP:0001284Areflexia0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM119321176614917
HP:0001284HP:0001284Areflexia0RNF170 CL E G H81790608984Ataxia, sensory, autosomal dominant608984C1837015OMIM16825358614649
HP:0001284HP:0001284Areflexia0RXYLT1 CL E G H10329899ORPHA121313530605862
HP:0001284HP:0001284Areflexia0RYR1 CL E G H6261424107ORPHA1506210483180901
HP:0001284HP:0001284Areflexia0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0001284HP:0001284Areflexia0SBF1 CL E G H6305615284Charcot-Marie-Tooth disease, type 4B3615284C3695063OMIM1115710542603560
HP:0001284HP:0001284Areflexia0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM112262135607697
HP:0001284HP:0001284Areflexia0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1190710597603415
HP:0001284HP:0001284Areflexia0SCO2 CL E G H9997521411ORPHA151410604604272
HP:0001284HP:0001284Areflexia0SETX CL E G H2306464753ORPHA11290445608465
HP:0001284HP:0001284Areflexia0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM191110914604878
HP:0001284HP:0001284Areflexia0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM145830224607882
HP:0001284HP:0001284Areflexia0SMN1 CL E G H6606253300Werdnig-Hoffmann disease253300C0043116OMIM120811117600354
HP:0001284HP:0001284Areflexia0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM119111132600322
HP:0001284HP:0001284Areflexia0SNAP29 CL E G H934266631ORPHA159911133604202
HP:0001284HP:0001284Areflexia0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM159911133604202
HP:0001284HP:0001284Areflexia0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0001284HP:0001284Areflexia0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM190716901615950
HP:0001284HP:0001284Areflexia0SPG11 CL E G H80208616668Charcot-Marie-Tooth disease, axonal type 2X616668C4225253OMIM1216511226610844
HP:0001284HP:0001284Areflexia0SPTBN4 CL E G H57731617519Myopathy, congenital, with neuropathy and deafness617519C4479603OMIM114014896606214
HP:0001284HP:0001284Areflexia0SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM133111277605712
HP:0001284HP:0001284Areflexia0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM135511474185620
HP:0001284HP:0001284Areflexia0SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM116011510600104
HP:0001284HP:0001284Areflexia0TDP1 CL E G H5577594124ORPHA120818884607198
HP:0001284HP:0001284Areflexia0TECPR2 CL E G H9895320385ORPHA189419957615000
HP:0001284HP:0001284Areflexia0TECPR2 CL E G H9895615031Spastic paraplegia 49, autosomal recessive615031C3542549OMIM189419957615000
HP:0001284HP:0001284Areflexia0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0001284HP:0001284Areflexia0TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM133415974614141
HP:0001284HP:0001284Areflexia0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM151616380602290
HP:0001284HP:0001284Areflexia0TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM189118083605427
HP:0001284HP:0001284Areflexia0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM189118083605427
HP:0001284HP:0001284Areflexia0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM189118083605427
HP:0001284HP:0001284Areflexia0TTPA CL E G H727496ORPHA130912404600415
HP:0001284HP:0001284Areflexia0TTPA CL E G H7274277460Ataxia with vitamin E deficiency277460C1848533OMIM130912404600415
HP:0001284HP:0001284Areflexia0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM13081160606075
HP:0001284HP:0001284Areflexia0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM13081160606075
HP:0001284HP:0001284Areflexia0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM13081160606075
HP:0001284HP:0001284Areflexia0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18033148131222
HP:0001284HP:0001284Areflexia0UBA1 CL E G H7317301830Spinal muscular atrophy, X-linked 2301830C1844934OMIM153112469314370
HP:0001284HP:0001284Areflexia0VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM131912649605704
HP:0001284HP:0001284Areflexia0VCP CL E G H7415616687Charcot-Marie-Tooth disease, axonal, type 2y616687C4225244OMIM147312666601023
HP:0001284HP:0001284Areflexia0VPS13A CL E G H232302388ORPHA117351908605978
HP:0001284HP:0001284Areflexia0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM117351908605978
HP:0001284HP:0001284Areflexia0WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1144814540605232
HP:0001284HP:0001284Areflexia0XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM118812811314850
HP:0001284HP:0001284Areflexia0XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM15212828194360
HP:0001284HP:0001284Areflexia0ZC4H2 CL E G H55906314580Wieacker Wolff syndrome314580C0796200OMIM123724931300897
HP:0001284HP:0012046Areflexia of upper limbs1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0001284HP:0031004Hemiareflexia1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0001284HP:0002522Areflexia of lower limbs1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0001284HP:0002522Areflexia of lower limbs1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001284HP:0012046Areflexia of upper limbs1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001284HP:0031004Hemiareflexia1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001284HP:0012046Areflexia of upper limbs1ABHD5 CL E G H5109998907ORPHA119421396604780
HP:0001284HP:0031004Hemiareflexia1ABHD5 CL E G H5109998907ORPHA119421396604780
HP:0001284HP:0002522Areflexia of lower limbs1ABHD5 CL E G H5109998907ORPHA119421396604780
HP:0001284HP:0031004Hemiareflexia1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001284HP:0002522Areflexia of lower limbs1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001284HP:0012046Areflexia of upper limbs1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM14916066617036
HP:0001284HP:0002522Areflexia of lower limbs1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001284HP:0012046Areflexia of upper limbs1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001284HP:0031004Hemiareflexia1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001284HP:0012046Areflexia of upper limbs1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0001284HP:0031004Hemiareflexia1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0001284HP:0002522Areflexia of lower limbs1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0001284HP:0002522Areflexia of lower limbs1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0001284HP:0012046Areflexia of upper limbs1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0001284HP:0031004Hemiareflexia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0001284HP:0012046Areflexia of upper limbs1ADCY6 CL E G H112616287Lethal congenital contracture syndrome 8616287C4225385OMIM172237600294
HP:0001284HP:0031004Hemiareflexia1ADCY6 CL E G H112616287Lethal congenital contracture syndrome 8616287C4225385OMIM172237600294
HP:0001284HP:0002522Areflexia of lower limbs1ADCY6 CL E G H112616287Lethal congenital contracture syndrome 8616287C4225385OMIM172237600294
HP:0001284HP:0002522Areflexia of lower limbs1AIFM1 CL E G H9131101078ORPHA14878768300169
HP:0001284HP:0012046Areflexia of upper limbs1AIFM1 CL E G H9131101078ORPHA14878768300169
HP:0001284HP:0031004Hemiareflexia1AIFM1 CL E G H9131101078ORPHA14878768300169
HP:0001284HP:0002522Areflexia of lower limbs1AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0001284HP:0012046Areflexia of upper limbs1AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0001284HP:0031004Hemiareflexia1AIFM1 CL E G H9131238329ORPHA14878768300169
HP:0001284HP:0002522Areflexia of lower limbs1AIFM1 CL E G H9131300614Deafness, X-linked 5300614C1845095OMIM14878768300169
HP:0001284HP:0012046Areflexia of upper limbs1AIFM1 CL E G H9131300614Deafness, X-linked 5300614C1845095OMIM14878768300169
HP:0001284HP:0031004Hemiareflexia1AIFM1 CL E G H9131300614Deafness, X-linked 5300614C1845095OMIM14878768300169
HP:0001284HP:0002522Areflexia of lower limbs1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0001284HP:0012046Areflexia of upper limbs1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0001284HP:0031004Hemiareflexia1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM149518294605907
HP:0001284HP:0002522Areflexia of lower limbs1ALG14 CL E G H199857353327ORPHA110428287612866
HP:0001284HP:0012046Areflexia of upper limbs1ALG14 CL E G H199857353327ORPHA110428287612866
HP:0001284HP:0031004Hemiareflexia1ALG14 CL E G H199857353327ORPHA110428287612866
HP:0001284HP:0012046Areflexia of upper limbs1ALG2 CL E G H85365353327ORPHA126223159607905
HP:0001284HP:0031004Hemiareflexia1ALG2 CL E G H85365353327ORPHA126223159607905
HP:0001284HP:0002522Areflexia of lower limbs1ALG2 CL E G H85365353327ORPHA126223159607905
HP:0001284HP:0002522Areflexia of lower limbs1ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM150523157604566
HP:0001284HP:0012046Areflexia of upper limbs1ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM150523157604566
HP:0001284HP:0031004Hemiareflexia1ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM150523157604566
HP:0001284HP:0012046Areflexia of upper limbs1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001284HP:0031004Hemiareflexia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001284HP:0002522Areflexia of lower limbs1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001284HP:0031004Hemiareflexia1ARSI CL E G H340075401815ORPHA19732521610009
HP:0001284HP:0002522Areflexia of lower limbs1ARSI CL E G H340075401815ORPHA19732521610009
HP:0001284HP:0012046Areflexia of upper limbs1ARSI CL E G H340075401815ORPHA19732521610009
HP:0001284HP:0002522Areflexia of lower limbs1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0001284HP:0012046Areflexia of upper limbs1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0001284HP:0031004Hemiareflexia1ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1712735613468
HP:0001284HP:0012046Areflexia of upper limbs1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1272799182310
HP:0001284HP:0031004Hemiareflexia1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1272799182310
HP:0001284HP:0002522Areflexia of lower limbs1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1272799182310
HP:0001284HP:0002522Areflexia of lower limbs1ATP1A3 CL E G H4781171ORPHA1790801182350
HP:0001284HP:0012046Areflexia of upper limbs1ATP1A3 CL E G H4781171ORPHA1790801182350
HP:0001284HP:0031004Hemiareflexia1ATP1A3 CL E G H4781171ORPHA1790801182350
HP:0001284HP:0002522Areflexia of lower limbs1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1790801182350
HP:0001284HP:0012046Areflexia of upper limbs1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1790801182350
HP:0001284HP:0031004Hemiareflexia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1790801182350
HP:0001284HP:0031004Hemiareflexia1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0001284HP:0002522Areflexia of lower limbs1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0001284HP:0012046Areflexia of upper limbs1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM18610548601556
HP:0001284HP:0012046Areflexia of upper limbs1B3GALNT2 CL E G H148789899ORPHA146228596610194
HP:0001284HP:0031004Hemiareflexia1B3GALNT2 CL E G H148789899ORPHA146228596610194
HP:0001284HP:0002522Areflexia of lower limbs1B3GALNT2 CL E G H148789899ORPHA146228596610194
HP:0001284HP:0002522Areflexia of lower limbs1B4GAT1 CL E G H11041899ORPHA116615685605517
HP:0001284HP:0012046Areflexia of upper limbs1B4GAT1 CL E G H11041899ORPHA116615685605517
HP:0001284HP:0031004Hemiareflexia1B4GAT1 CL E G H11041899ORPHA116615685605517
HP:0001284HP:0012046Areflexia of upper limbs1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM159017208609797
HP:0001284HP:0031004Hemiareflexia1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM159017208609797
HP:0001284HP:0002522Areflexia of lower limbs1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM159017208609797
HP:0001284HP:0012046Areflexia of upper limbs1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0001284HP:0031004Hemiareflexia1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0001284HP:0002522Areflexia of lower limbs1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0001284HP:0002522Areflexia of lower limbs1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001284HP:0012046Areflexia of upper limbs1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001284HP:0031004Hemiareflexia1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001284HP:0031004Hemiareflexia1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM169725695612800
HP:0001284HP:0002522Areflexia of lower limbs1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM169725695612800
HP:0001284HP:0012046Areflexia of upper limbs1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM169725695612800
HP:0001284HP:0002522Areflexia of lower limbs1CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM1641689107271
HP:0001284HP:0012046Areflexia of upper limbs1CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM1641689107271
HP:0001284HP:0031004Hemiareflexia1CD59 CL E G H966612300CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy612300C2676767OMIM1641689107271
HP:0001284HP:0031004Hemiareflexia1CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001284HP:0002522Areflexia of lower limbs1CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001284HP:0012046Areflexia of upper limbs1CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM1881774123831
HP:0001284HP:0002522Areflexia of lower limbs1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0001284HP:0012046Areflexia of upper limbs1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0001284HP:0031004Hemiareflexia1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0001284HP:0002522Areflexia of lower limbs1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0001284HP:0012046Areflexia of upper limbs1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0001284HP:0031004Hemiareflexia1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0001284HP:0002522Areflexia of lower limbs1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM124815559615903
HP:0001284HP:0012046Areflexia of upper limbs1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM124815559615903
HP:0001284HP:0031004Hemiareflexia1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM124815559615903
HP:0001284HP:0002522Areflexia of lower limbs1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0001284HP:0012046Areflexia of upper limbs1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0001284HP:0031004Hemiareflexia1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0001284HP:0031004Hemiareflexia1CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM14762171600016
HP:0001284HP:0002522Areflexia of lower limbs1CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM14762171600016
HP:0001284HP:0012046Areflexia of upper limbs1CNTN1 CL E G H1272612540Myopathy, congenital, compton-north612540C2675527OMIM14762171600016
HP:0001284HP:0002522Areflexia of lower limbs1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001284HP:0012046Areflexia of upper limbs1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001284HP:0031004Hemiareflexia1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001284HP:0031004Hemiareflexia1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0001284HP:0002522Areflexia of lower limbs1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0001284HP:0012046Areflexia of upper limbs1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM119442188120320
HP:0001284HP:0012046Areflexia of upper limbs1COL4A1 CL E G H1282899ORPHA112582202120130
HP:0001284HP:0031004Hemiareflexia1COL4A1 CL E G H1282899ORPHA112582202120130
HP:0001284HP:0002522Areflexia of lower limbs1COL4A1 CL E G H1282899ORPHA112582202120130
HP:0001284HP:0002522Areflexia of lower limbs1COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1742277602072
HP:0001284HP:0012046Areflexia of upper limbs1COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1742277602072
HP:0001284HP:0031004Hemiareflexia1COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1742277602072
HP:0001284HP:0012046Areflexia of upper limbs1DAG1 CL E G H1605899ORPHA14962666128239
HP:0001284HP:0031004Hemiareflexia1DAG1 CL E G H1605899ORPHA14962666128239
HP:0001284HP:0002522Areflexia of lower limbs1DAG1 CL E G H1605899ORPHA14962666128239
HP:0001284HP:0002522Areflexia of lower limbs1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0001284HP:0012046Areflexia of upper limbs1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0001284HP:0031004Hemiareflexia1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0001284HP:0002522Areflexia of lower limbs1DNAJB2 CL E G H3300614881Spinal muscular atrophy, distal, autosomal recessive, 5614881C3553989OMIM12535228604139
HP:0001284HP:0012046Areflexia of upper limbs1DNAJB2 CL E G H3300614881Spinal muscular atrophy, distal, autosomal recessive, 5614881C3553989OMIM12535228604139
HP:0001284HP:0031004Hemiareflexia1DNAJB2 CL E G H3300614881Spinal muscular atrophy, distal, autosomal recessive, 5614881C3553989OMIM12535228604139
HP:0001284HP:0012046Areflexia of upper limbs1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11059439601184
HP:0001284HP:0031004Hemiareflexia1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11059439601184
HP:0001284HP:0002522Areflexia of lower limbs1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11059439601184
HP:0001284HP:0002522Areflexia of lower limbs1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM14452973603850
HP:0001284HP:0012046Areflexia of upper limbs1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM14452973603850
HP:0001284HP:0031004Hemiareflexia1DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM14452973603850
HP:0001284HP:0031004Hemiareflexia1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0001284HP:0002522Areflexia of lower limbs1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0001284HP:0012046Areflexia of upper limbs1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0001284HP:0002522Areflexia of lower limbs1DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0001284HP:0012046Areflexia of upper limbs1DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0001284HP:0031004Hemiareflexia1DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM18852974602378
HP:0001284HP:0012046Areflexia of upper limbs1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0001284HP:0031004Hemiareflexia1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0001284HP:0002522Areflexia of lower limbs1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0001284HP:0002522Areflexia of lower limbs1DPAGT1 CL E G H1798353327ORPHA12582995191350
HP:0001284HP:0012046Areflexia of upper limbs1DPAGT1 CL E G H1798353327ORPHA12582995191350
HP:0001284HP:0031004Hemiareflexia1DPAGT1 CL E G H1798353327ORPHA12582995191350
HP:0001284HP:0012046Areflexia of upper limbs1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0001284HP:0031004Hemiareflexia1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0001284HP:0002522Areflexia of lower limbs1DST CL E G H667614653Neuropathy, hereditary sensory and autonomic, type VI614653C3539003OMIM129271090113810
HP:0001284HP:0012046Areflexia of upper limbs1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0001284HP:0031004Hemiareflexia1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0001284HP:0002522Areflexia of lower limbs1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13183239129010
HP:0001284HP:0002522Areflexia of lower limbs1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0001284HP:0012046Areflexia of upper limbs1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0001284HP:0031004Hemiareflexia1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0001284HP:0031004Hemiareflexia1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM111703438609413
HP:0001284HP:0002522Areflexia of lower limbs1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM111703438609413
HP:0001284HP:0012046Areflexia of upper limbs1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM111703438609413
HP:0001284HP:0002522Areflexia of lower limbs1FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM165919125611104
HP:0001284HP:0012046Areflexia of upper limbs1FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM165919125611104
HP:0001284HP:0031004Hemiareflexia1FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM165919125611104
HP:0001284HP:0012046Areflexia of upper limbs1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0001284HP:0031004Hemiareflexia1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0001284HP:0002522Areflexia of lower limbs1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0001284HP:0031004Hemiareflexia1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM174916873609390
HP:0001284HP:0002522Areflexia of lower limbs1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM174916873609390
HP:0001284HP:0012046Areflexia of upper limbs1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM174916873609390
HP:0001284HP:0002522Areflexia of lower limbs1FKRP CL E G H79147899ORPHA178717997606596
HP:0001284HP:0012046Areflexia of upper limbs1FKRP CL E G H79147899ORPHA178717997606596
HP:0001284HP:0031004Hemiareflexia1FKRP CL E G H79147899ORPHA178717997606596
HP:0001284HP:0002522Areflexia of lower limbs1FKTN CL E G H2218899ORPHA17833622607440
HP:0001284HP:0012046Areflexia of upper limbs1FKTN CL E G H2218899ORPHA17833622607440
HP:0001284HP:0031004Hemiareflexia1FKTN CL E G H2218899ORPHA17833622607440
HP:0001284HP:0012046Areflexia of upper limbs1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM17833622607440
HP:0001284HP:0031004Hemiareflexia1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM17833622607440
HP:0001284HP:0002522Areflexia of lower limbs1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM17833622607440
HP:0001284HP:0002522Areflexia of lower limbs1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM144824682609144
HP:0001284HP:0012046Areflexia of upper limbs1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM144824682609144
HP:0001284HP:0031004Hemiareflexia1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM144824682609144
HP:0001284HP:0002522Areflexia of lower limbs1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0001284HP:0012046Areflexia of upper limbs1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0001284HP:0031004Hemiareflexia1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0001284HP:0031004Hemiareflexia1GAN CL E G H8139643ORPHA16614137605379
HP:0001284HP:0002522Areflexia of lower limbs1GAN CL E G H8139643ORPHA16614137605379
HP:0001284HP:0012046Areflexia of upper limbs1GAN CL E G H8139643ORPHA16614137605379
HP:0001284HP:0012046Areflexia of upper limbs1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0001284HP:0031004Hemiareflexia1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0001284HP:0002522Areflexia of lower limbs1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0001284HP:0012046Areflexia of upper limbs1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0001284HP:0031004Hemiareflexia1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0001284HP:0002522Areflexia of lower limbs1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM147715968606598
HP:0001284HP:0031004Hemiareflexia1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0001284HP:0002522Areflexia of lower limbs1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0001284HP:0012046Areflexia of upper limbs1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0001284HP:0031004Hemiareflexia1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0001284HP:0002522Areflexia of lower limbs1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0001284HP:0012046Areflexia of upper limbs1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0001284HP:0012046Areflexia of upper limbs1GFPT1 CL E G H2673353327ORPHA14534241138292
HP:0001284HP:0031004Hemiareflexia1GFPT1 CL E G H2673353327ORPHA14534241138292
HP:0001284HP:0002522Areflexia of lower limbs1GFPT1 CL E G H2673353327ORPHA14534241138292
HP:0001284HP:0012046Areflexia of upper limbs1GJB1 CL E G H2705101075ORPHA17974283304040
HP:0001284HP:0031004Hemiareflexia1GJB1 CL E G H2705101075ORPHA17974283304040
HP:0001284HP:0002522Areflexia of lower limbs1GJB1 CL E G H2705101075ORPHA17974283304040
HP:0001284HP:0002522Areflexia of lower limbs1GMPPB CL E G H29925353327ORPHA127322932615320
HP:0001284HP:0012046Areflexia of upper limbs1GMPPB CL E G H29925353327ORPHA127322932615320
HP:0001284HP:0031004Hemiareflexia1GMPPB CL E G H29925353327ORPHA127322932615320
HP:0001284HP:0002522Areflexia of lower limbs1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12724431604027
HP:0001284HP:0012046Areflexia of upper limbs1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12724431604027
HP:0001284HP:0031004Hemiareflexia1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12724431604027
HP:0001284HP:0031004Hemiareflexia1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA16304801600890
HP:0001284HP:0002522Areflexia of lower limbs1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA16304801600890
HP:0001284HP:0012046Areflexia of upper limbs1HADHA CL E G H3030746Apert like polydactyly syndromeORPHA16304801600890
HP:0001284HP:0002522Areflexia of lower limbs1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12634803143450
HP:0001284HP:0012046Areflexia of upper limbs1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12634803143450
HP:0001284HP:0031004Hemiareflexia1HADHB CL E G H3032746Apert like polydactyly syndromeORPHA12634803143450
HP:0001284HP:0002522Areflexia of lower limbs1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0001284HP:0012046Areflexia of upper limbs1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0001284HP:0031004Hemiareflexia1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0001284HP:0002522Areflexia of lower limbs1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0001284HP:0012046Areflexia of upper limbs1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0001284HP:0031004Hemiareflexia1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0001284HP:0002522Areflexia of lower limbs1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM117827302615316
HP:0001284HP:0012046Areflexia of upper limbs1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM117827302615316
HP:0001284HP:0031004Hemiareflexia1IBA57 CL E G H200205616451Spastic paraplegia 74, autosomal recessive616451C4225322OMIM117827302615316
HP:0001284HP:0002522Areflexia of lower limbs1IFRD1 CL E G H347598771ORPHA1525456603502
HP:0001284HP:0012046Areflexia of upper limbs1IFRD1 CL E G H347598771ORPHA1525456603502
HP:0001284HP:0031004Hemiareflexia1IFRD1 CL E G H347598771ORPHA1525456603502
HP:0001284HP:0002522Areflexia of lower limbs1IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM19965542600502
HP:0001284HP:0012046Areflexia of upper limbs1IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM19965542600502
HP:0001284HP:0031004Hemiareflexia1IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM19965542600502
HP:0001284HP:0031004Hemiareflexia1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1115023791610982
HP:0001284HP:0002522Areflexia of lower limbs1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1115023791610982
HP:0001284HP:0012046Areflexia of upper limbs1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1115023791610982
HP:0001284HP:0002522Areflexia of lower limbs1ISPD CL E G H729920899ORPHA164737276614631
HP:0001284HP:0012046Areflexia of upper limbs1ISPD CL E G H729920899ORPHA164737276614631
HP:0001284HP:0031004Hemiareflexia1ISPD CL E G H729920899ORPHA164737276614631
HP:0001284HP:0012046Areflexia of upper limbs1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM164737276614631
HP:0001284HP:0031004Hemiareflexia1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM164737276614631
HP:0001284HP:0002522Areflexia of lower limbs1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM164737276614631
HP:0001284HP:0002522Areflexia of lower limbs1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM113086188601920
HP:0001284HP:0012046Areflexia of upper limbs1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM113086188601920
HP:0001284HP:0031004Hemiareflexia1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM113086188601920
HP:0001284HP:0002522Areflexia of lower limbs1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0001284HP:0012046Areflexia of upper limbs1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0001284HP:0031004Hemiareflexia1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0001284HP:0002522Areflexia of lower limbs1KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM16215601421
HP:0001284HP:0012046Areflexia of upper limbs1KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM16215601421
HP:0001284HP:0031004Hemiareflexia1KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM16215601421
HP:0001284HP:0012046Areflexia of upper limbs1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12132888601255
HP:0001284HP:0031004Hemiareflexia1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12132888601255
HP:0001284HP:0002522Areflexia of lower limbs1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12132888601255
HP:0001284HP:0002522Areflexia of lower limbs1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12132888601255
HP:0001284HP:0012046Areflexia of upper limbs1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12132888601255
HP:0001284HP:0031004Hemiareflexia1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12132888601255
HP:0001284HP:0031004Hemiareflexia1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0001284HP:0002522Areflexia of lower limbs1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0001284HP:0012046Areflexia of upper limbs1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0001284HP:0002522Areflexia of lower limbs1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM132836482156225
HP:0001284HP:0012046Areflexia of upper limbs1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM132836482156225
HP:0001284HP:0031004Hemiareflexia1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM132836482156225
HP:0001284HP:0012046Areflexia of upper limbs1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM132836482156225
HP:0001284HP:0031004Hemiareflexia1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM132836482156225
HP:0001284HP:0002522Areflexia of lower limbs1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM132836482156225
HP:0001284HP:0012046Areflexia of upper limbs1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM16776487150325
HP:0001284HP:0031004Hemiareflexia1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM16776487150325
HP:0001284HP:0002522Areflexia of lower limbs1LAMB2 CL E G H3913609049Pierson syndrome609049C1836876OMIM16776487150325
HP:0001284HP:0002522Areflexia of lower limbs1LARGE1 CL E G H9215899ORPHA16586511603590
HP:0001284HP:0031004Hemiareflexia1LARGE1 CL E G H9215899ORPHA16586511603590
HP:0001284HP:0012046Areflexia of upper limbs1LARGE1 CL E G H9215899ORPHA16586511603590
HP:0001284HP:0012046Areflexia of upper limbs1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM16586511603590
HP:0001284HP:0031004Hemiareflexia1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM16586511603590
HP:0001284HP:0002522Areflexia of lower limbs1LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM16586511603590
HP:0001284HP:0002522Areflexia of lower limbs1LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0001284HP:0012046Areflexia of upper limbs1LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0001284HP:0031004Hemiareflexia1LGI4 CL E G H163175617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect617468C4479539OMIM17918712608303
HP:0001284HP:0002522Areflexia of lower limbs1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0001284HP:0012046Areflexia of upper limbs1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0001284HP:0031004Hemiareflexia1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0001284HP:0002522Areflexia of lower limbs1LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM140113345605518
HP:0001284HP:0012046Areflexia of upper limbs1LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM140113345605518
HP:0001284HP:0031004Hemiareflexia1LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM140113345605518
HP:0001284HP:0002522Areflexia of lower limbs1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM170725135610933
HP:0001284HP:0012046Areflexia of upper limbs1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM170725135610933
HP:0001284HP:0031004Hemiareflexia1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM170725135610933
HP:0001284HP:0002522Areflexia of lower limbs1LYST CL E G H1130167ORPHA117541968606897
HP:0001284HP:0012046Areflexia of upper limbs1LYST CL E G H1130167ORPHA117541968606897
HP:0001284HP:0031004Hemiareflexia1LYST CL E G H1130167ORPHA117541968606897
HP:0001284HP:0012046Areflexia of upper limbs1MARS CL E G H4141616280Charcot-Marie-Tooth disease, axonal, type 2u616280C4084821OMIM16898156560
HP:0001284HP:0031004Hemiareflexia1MARS CL E G H4141616280Charcot-Marie-Tooth disease, axonal, type 2u616280C4084821OMIM16898156560
HP:0001284HP:0002522Areflexia of lower limbs1MARS CL E G H4141616280Charcot-Marie-Tooth disease, axonal, type 2u616280C4084821OMIM16898156560
HP:0001284HP:0002522Areflexia of lower limbs1MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM17216946603294
HP:0001284HP:0012046Areflexia of upper limbs1MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM17216946603294
HP:0001284HP:0031004Hemiareflexia1MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM17216946603294
HP:0001284HP:0012046Areflexia of upper limbs1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0001284HP:0031004Hemiareflexia1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0001284HP:0002522Areflexia of lower limbs1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0001284HP:0031004Hemiareflexia1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0001284HP:0002522Areflexia of lower limbs1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0001284HP:0012046Areflexia of upper limbs1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0001284HP:0002522Areflexia of lower limbs1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0001284HP:0012046Areflexia of upper limbs1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0001284HP:0031004Hemiareflexia1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0001284HP:0031004Hemiareflexia1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0001284HP:0002522Areflexia of lower limbs1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0001284HP:0012046Areflexia of upper limbs1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0001284HP:0031004Hemiareflexia1MME CL E G H4311497764ORPHA14227154120520
HP:0001284HP:0002522Areflexia of lower limbs1MME CL E G H4311497764ORPHA14227154120520
HP:0001284HP:0012046Areflexia of upper limbs1MME CL E G H4311497764ORPHA14227154120520
HP:0001284HP:0002522Areflexia of lower limbs1MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM14227154120520
HP:0001284HP:0012046Areflexia of upper limbs1MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM14227154120520
HP:0001284HP:0031004Hemiareflexia1MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM14227154120520
HP:0001284HP:0002522Areflexia of lower limbs1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM158523573616661
HP:0001284HP:0012046Areflexia of upper limbs1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM158523573616661
HP:0001284HP:0031004Hemiareflexia1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM158523573616661
HP:0001284HP:0002522Areflexia of lower limbs1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12007224137960
HP:0001284HP:0012046Areflexia of upper limbs1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12007224137960
HP:0001284HP:0031004Hemiareflexia1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12007224137960
HP:0001284HP:0002522Areflexia of lower limbs1MPZ CL E G H4359101082ORPHA15577225159440
HP:0001284HP:0012046Areflexia of upper limbs1MPZ CL E G H43593115ORPHA15577225159440
HP:0001284HP:0012046Areflexia of upper limbs1MPZ CL E G H4359101082ORPHA15577225159440
HP:0001284HP:0031004Hemiareflexia1MPZ CL E G H43593115ORPHA15577225159440
HP:0001284HP:0031004Hemiareflexia1MPZ CL E G H4359101082ORPHA15577225159440
HP:0001284HP:0002522Areflexia of lower limbs1MPZ CL E G H43593115ORPHA15577225159440
HP:0001284HP:0002522Areflexia of lower limbs1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM15577225159440
HP:0001284HP:0012046Areflexia of upper limbs1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM15577225159440
HP:0001284HP:0031004Hemiareflexia1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM15577225159440
HP:0001284HP:0031004Hemiareflexia1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM15577225159440
HP:0001284HP:0002522Areflexia of lower limbs1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM15577225159440
HP:0001284HP:0012046Areflexia of upper limbs1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM15577225159440
HP:0001284HP:0012046Areflexia of upper limbs1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15577225159440
HP:0001284HP:0031004Hemiareflexia1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15577225159440
HP:0001284HP:0002522Areflexia of lower limbs1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15577225159440
HP:0001284HP:0002522Areflexia of lower limbs1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15577225159440
HP:0001284HP:0012046Areflexia of upper limbs1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15577225159440
HP:0001284HP:0031004Hemiareflexia1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15577225159440
HP:0001284HP:0002522Areflexia of lower limbs1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM15577225159440
HP:0001284HP:0012046Areflexia of upper limbs1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM15577225159440
HP:0001284HP:0031004Hemiareflexia1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM15577225159440
HP:0001284HP:0012046Areflexia of upper limbs1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0001284HP:0031004Hemiareflexia1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0001284HP:0002522Areflexia of lower limbs1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0001284HP:0002522Areflexia of lower limbs1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15577225159440
HP:0001284HP:0012046Areflexia of upper limbs1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15577225159440
HP:0001284HP:0031004Hemiareflexia1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15577225159440
HP:0001284HP:0002522Areflexia of lower limbs1MTM1 CL E G H4534596Albright like syndromeORPHA17207448300415
HP:0001284HP:0012046Areflexia of upper limbs1MTM1 CL E G H4534596Albright like syndromeORPHA17207448300415
HP:0001284HP:0031004Hemiareflexia1MTM1 CL E G H4534596Albright like syndromeORPHA17207448300415
HP:0001284HP:0002522Areflexia of lower limbs1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0001284HP:0012046Areflexia of upper limbs1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0001284HP:0031004Hemiareflexia1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM17207448300415
HP:0001284HP:0031004Hemiareflexia1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM185723212608568
HP:0001284HP:0002522Areflexia of lower limbs1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM185723212608568
HP:0001284HP:0012046Areflexia of upper limbs1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM185723212608568
HP:0001284HP:0012046Areflexia of upper limbs1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0001284HP:0031004Hemiareflexia1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0001284HP:0002522Areflexia of lower limbs1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0001284HP:0031004Hemiareflexia1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM16427679605262
HP:0001284HP:0002522Areflexia of lower limbs1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM16427679605262
HP:0001284HP:0012046Areflexia of upper limbs1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM16427679605262
HP:0001284HP:0012046Areflexia of upper limbs1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0001284HP:0031004Hemiareflexia1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0001284HP:0002522Areflexia of lower limbs1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0001284HP:0002522Areflexia of lower limbs1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM15437739162280
HP:0001284HP:0012046Areflexia of upper limbs1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM15437739162280
HP:0001284HP:0031004Hemiareflexia1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM15437739162280
HP:0001284HP:0002522Areflexia of lower limbs1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM15437739162280
HP:0001284HP:0012046Areflexia of upper limbs1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM15437739162280
HP:0001284HP:0031004Hemiareflexia1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM15437739162280
HP:0001284HP:0002522Areflexia of lower limbs1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM15437739162280
HP:0001284HP:0012046Areflexia of upper limbs1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM15437739162280
HP:0001284HP:0031004Hemiareflexia1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM15437739162280
HP:0001284HP:0002522Areflexia of lower limbs1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA15088108300535
HP:0001284HP:0012046Areflexia of upper limbs1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA15088108300535
HP:0001284HP:0031004Hemiareflexia1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA15088108300535
HP:0001284HP:0012046Areflexia of upper limbs1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM15088108300535
HP:0001284HP:0031004Hemiareflexia1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM15088108300535
HP:0001284HP:0002522Areflexia of lower limbs1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM15088108300535
HP:0001284HP:0002522Areflexia of lower limbs1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM119617759607429
HP:0001284HP:0012046Areflexia of upper limbs1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM119617759607429
HP:0001284HP:0031004Hemiareflexia1PDSS1 CL E G H23590614651Coenzyme Q10 deficiency, primary, 2614651C3553354OMIM119617759607429
HP:0001284HP:0002522Areflexia of lower limbs1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM112058850602136
HP:0001284HP:0012046Areflexia of upper limbs1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM112058850602136
HP:0001284HP:0031004Hemiareflexia1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM112058850602136
HP:0001284HP:0031004Hemiareflexia1PEX11B CL E G H8799614920Peroxisome biogenesis disorder 14B614920C3554055OMIM13508853603867
HP:0001284HP:0002522Areflexia of lower limbs1PEX11B CL E G H8799614920Peroxisome biogenesis disorder 14B614920C3554055OMIM13508853603867
HP:0001284HP:0012046Areflexia of upper limbs1PEX11B CL E G H8799614920Peroxisome biogenesis disorder 14B614920C3554055OMIM13508853603867
HP:0001284HP:0002522Areflexia of lower limbs1PEX12 CL E G H5193614859Peroxisome biogenesis disorder 3A614859C3553929OMIM13608854601758
HP:0001284HP:0012046Areflexia of upper limbs1PEX12 CL E G H5193614859Peroxisome biogenesis disorder 3A614859C3553929OMIM13608854601758
HP:0001284HP:0031004Hemiareflexia1PEX12 CL E G H5193614859Peroxisome biogenesis disorder 3A614859C3553929OMIM13608854601758
HP:0001284HP:0031004Hemiareflexia1PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM13669717170993
HP:0001284HP:0002522Areflexia of lower limbs1PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM13669717170993
HP:0001284HP:0012046Areflexia of upper limbs1PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM13669717170993
HP:0001284HP:0031004Hemiareflexia1PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM12718858603164
HP:0001284HP:0002522Areflexia of lower limbs1PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM12718858603164
HP:0001284HP:0012046Areflexia of upper limbs1PEX3 CL E G H8504614882Peroxisome biogenesis disorder 10A614882C3553999OMIM12718858603164
HP:0001284HP:0002522Areflexia of lower limbs1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0001284HP:0012046Areflexia of upper limbs1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0001284HP:0031004Hemiareflexia1PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM16899719600414
HP:0001284HP:0002522Areflexia of lower limbs1PIK3R5 CL E G H2353364753ORPHA14830035611317
HP:0001284HP:0012046Areflexia of upper limbs1PIK3R5 CL E G H2353364753ORPHA14830035611317
HP:0001284HP:0031004Hemiareflexia1PIK3R5 CL E G H2353364753ORPHA14830035611317
HP:0001284HP:0012046Areflexia of upper limbs1PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM14830035611317
HP:0001284HP:0031004Hemiareflexia1PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM14830035611317
HP:0001284HP:0002522Areflexia of lower limbs1PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM14830035611317
HP:0001284HP:0002522Areflexia of lower limbs1PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM193429105611101
HP:0001284HP:0012046Areflexia of upper limbs1PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM193429105611101
HP:0001284HP:0031004Hemiareflexia1PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM193429105611101
HP:0001284HP:0002522Areflexia of lower limbs1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0001284HP:0012046Areflexia of upper limbs1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0001284HP:0031004Hemiareflexia1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0001284HP:0002522Areflexia of lower limbs1PMP22 CL E G H53763115ORPHA14539118601097
HP:0001284HP:0012046Areflexia of upper limbs1PMP22 CL E G H53763115ORPHA14539118601097
HP:0001284HP:0031004Hemiareflexia1PMP22 CL E G H53763115ORPHA14539118601097
HP:0001284HP:0031004Hemiareflexia1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14539118601097
HP:0001284HP:0002522Areflexia of lower limbs1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14539118601097
HP:0001284HP:0012046Areflexia of upper limbs1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14539118601097
HP:0001284HP:0002522Areflexia of lower limbs1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14539118601097
HP:0001284HP:0012046Areflexia of upper limbs1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14539118601097
HP:0001284HP:0031004Hemiareflexia1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14539118601097
HP:0001284HP:0002522Areflexia of lower limbs1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0001284HP:0012046Areflexia of upper limbs1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0001284HP:0031004Hemiareflexia1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0001284HP:0031004Hemiareflexia1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14539118601097
HP:0001284HP:0002522Areflexia of lower limbs1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14539118601097
HP:0001284HP:0012046Areflexia of upper limbs1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14539118601097
HP:0001284HP:0002522Areflexia of lower limbs1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM18759154605610
HP:0001284HP:0012046Areflexia of upper limbs1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM18759154605610
HP:0001284HP:0031004Hemiareflexia1PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM18759154605610
HP:0001284HP:0002522Areflexia of lower limbs1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM194316268603197
HP:0001284HP:0012046Areflexia of upper limbs1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM194316268603197
HP:0001284HP:0031004Hemiareflexia1PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM194316268603197
HP:0001284HP:0002522Areflexia of lower limbs1POLG CL E G H5428726ORPHA119179179174763
HP:0001284HP:0012046Areflexia of upper limbs1POLG CL E G H5428726ORPHA119179179174763
HP:0001284HP:0031004Hemiareflexia1POLG CL E G H5428726ORPHA119179179174763
HP:0001284HP:0031004Hemiareflexia1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0001284HP:0002522Areflexia of lower limbs1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0001284HP:0012046Areflexia of upper limbs1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0001284HP:0002522Areflexia of lower limbs1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0001284HP:0012046Areflexia of upper limbs1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0001284HP:0031004Hemiareflexia1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM119179179174763
HP:0001284HP:0012046Areflexia of upper limbs1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA119179179174763
HP:0001284HP:0031004Hemiareflexia1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA119179179174763
HP:0001284HP:0002522Areflexia of lower limbs1POLG CL E G H542894125Recessive mitochondrial ataxia syndromeCN206743ORPHA119179179174763
HP:0001284HP:0031004Hemiareflexia1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0001284HP:0002522Areflexia of lower limbs1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0001284HP:0012046Areflexia of upper limbs1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0001284HP:0002522Areflexia of lower limbs1POMGNT1 CL E G H55624899ORPHA194319139606822
HP:0001284HP:0012046Areflexia of upper limbs1POMGNT1 CL E G H55624899ORPHA194319139606822
HP:0001284HP:0031004Hemiareflexia1POMGNT1 CL E G H55624899ORPHA194319139606822
HP:0001284HP:0031004Hemiareflexia1POMGNT2 CL E G H84892899ORPHA134625902614828
HP:0001284HP:0002522Areflexia of lower limbs1POMGNT2 CL E G H84892899ORPHA134625902614828
HP:0001284HP:0012046Areflexia of upper limbs1POMGNT2 CL E G H84892899ORPHA134625902614828
HP:0001284HP:0002522Areflexia of lower limbs1POMK CL E G H84197899ORPHA124426267615247
HP:0001284HP:0012046Areflexia of upper limbs1POMK CL E G H84197899ORPHA124426267615247
HP:0001284HP:0031004Hemiareflexia1POMK CL E G H84197899ORPHA124426267615247
HP:0001284HP:0031004Hemiareflexia1POMT1 CL E G H10585899ORPHA17379202607423
HP:0001284HP:0002522Areflexia of lower limbs1POMT1 CL E G H10585899ORPHA17379202607423
HP:0001284HP:0012046Areflexia of upper limbs1POMT1 CL E G H10585899ORPHA17379202607423
HP:0001284HP:0002522Areflexia of lower limbs1POMT2 CL E G H29954899ORPHA176619743607439
HP:0001284HP:0012046Areflexia of upper limbs1POMT2 CL E G H29954899ORPHA176619743607439
HP:0001284HP:0031004Hemiareflexia1POMT2 CL E G H29954899ORPHA176619743607439
HP:0001284HP:0002522Areflexia of lower limbs1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0001284HP:0012046Areflexia of upper limbs1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0001284HP:0031004Hemiareflexia1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0001284HP:0031004Hemiareflexia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0001284HP:0002522Areflexia of lower limbs1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0001284HP:0012046Areflexia of upper limbs1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0001284HP:0002522Areflexia of lower limbs1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0001284HP:0012046Areflexia of upper limbs1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0001284HP:0031004Hemiareflexia1PRPS1 CL E G H563199014ORPHA13609462311850
HP:0001284HP:0002522Areflexia of lower limbs1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13609462311850
HP:0001284HP:0012046Areflexia of upper limbs1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13609462311850
HP:0001284HP:0031004Hemiareflexia1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13609462311850
HP:0001284HP:0012046Areflexia of upper limbs1PRPS1 CL E G H56311187Cerebellar agenesisORPHA13609462311850
HP:0001284HP:0031004Hemiareflexia1PRPS1 CL E G H56311187Cerebellar agenesisORPHA13609462311850
HP:0001284HP:0002522Areflexia of lower limbs1PRPS1 CL E G H56311187Cerebellar agenesisORPHA13609462311850
HP:0001284HP:0002522Areflexia of lower limbs1PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM1107913797605725
HP:0001284HP:0012046Areflexia of upper limbs1PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM1107913797605725
HP:0001284HP:0031004Hemiareflexia1PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM1107913797605725
HP:0001284HP:0012046Areflexia of upper limbs1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0001284HP:0031004Hemiareflexia1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0001284HP:0002522Areflexia of lower limbs1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0001284HP:0002522Areflexia of lower limbs1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0001284HP:0012046Areflexia of upper limbs1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0001284HP:0031004Hemiareflexia1PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0001284HP:0002522Areflexia of lower limbs1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11769788602298
HP:0001284HP:0012046Areflexia of upper limbs1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11769788602298
HP:0001284HP:0031004Hemiareflexia1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11769788602298
HP:0001284HP:0031004Hemiareflexia1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM111499834607642
HP:0001284HP:0002522Areflexia of lower limbs1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM111499834607642
HP:0001284HP:0012046Areflexia of upper limbs1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM111499834607642
HP:0001284HP:0002522Areflexia of lower limbs1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM137725786609139
HP:0001284HP:0012046Areflexia of upper limbs1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM137725786609139
HP:0001284HP:0031004Hemiareflexia1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM137725786609139
HP:0001284HP:0002522Areflexia of lower limbs1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM145325964613114
HP:0001284HP:0012046Areflexia of upper limbs1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM145325964613114
HP:0001284HP:0031004Hemiareflexia1RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM145325964613114
HP:0001284HP:0002522Areflexia of lower limbs1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM145325964613114
HP:0001284HP:0012046Areflexia of upper limbs1RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM145325964613114
HP:0001284HP:0031004Hemiareflexia1RETREG1 CL E G H