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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Hyporeflexia (HP:0001265)help
Term ID: 1265
Name: Hyporeflexia
Synonym: Decreased reflex response; Decreased reflexes
Definition: Reduction of neurologic reflexes such as the knee-jerk reaction.
Comments:
Reference: HP:0001265
Genes and Diseases:
 
       Child Nodes:
........expandHyporeflexia of lower limbs (HP:0002600) help
................... HP:0009072 Decreased Achilles reflex
................... HP:0011808 Decreased patellar reflex
........expandHyporeflexia of upper limbs (HP:0012391) help
........expandJaw hyporeflexia (HP:0012392) help

 Sister Nodes: 
..expandAreflexia (HP:0001284) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001265HP:0001265Hyporeflexia0AARS CL E G H16442835ORPHA120601065
HP:0001265HP:0001265Hyporeflexia0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0001265HP:0001265Hyporeflexia0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001265HP:0001265Hyporeflexia0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H58171436ORPHA1392129102610
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H58171433ORPHA1392129102610
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H58171439ORPHA1392129102610
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H5897244ORPHA1392129102610
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0001265HP:0001265Hyporeflexia0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0001265HP:0001265Hyporeflexia0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14878768300169
HP:0001265HP:0001265Hyporeflexia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0001265HP:0001265Hyporeflexia0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1457473238310
HP:0001265HP:0001265Hyporeflexia0AP3B2 CL E G H8120442835ORPHA1437567602166
HP:0001265HP:0001265Hyporeflexia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001265HP:0001265Hyporeflexia0AR CL E G H367481ORPHA1556644313700
HP:0001265HP:0001265Hyporeflexia0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0001265HP:0001265Hyporeflexia0ARSA CL E G H410309263ORPHA1953713607574
HP:0001265HP:0001265Hyporeflexia0ARSA CL E G H410309271ORPHA1953713607574
HP:0001265HP:0001265Hyporeflexia0ARSA CL E G H410309256ORPHA1953713607574
HP:0001265HP:0001265Hyporeflexia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1953713607574
HP:0001265HP:0001265Hyporeflexia0ARV1 CL E G H64801442835ORPHA17129561611647
HP:0001265HP:0001265Hyporeflexia0ATN1 CL E G H1822101ORPHA11133033607462
HP:0001265HP:0001265Hyporeflexia0ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1272799182310
HP:0001265HP:0001265Hyporeflexia0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001265HP:0001265Hyporeflexia0ATP6V1A CL E G H523442835ORPHA1123851607027
HP:0001265HP:0001265Hyporeflexia0ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0001265HP:0001265Hyporeflexia0ATXN2 CL E G H631198756ORPHA15310555601517
HP:0001265HP:0001265Hyporeflexia0ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0001265HP:0001265Hyporeflexia0B3GALNT2 CL E G H148789899ORPHA146228596610194
HP:0001265HP:0001265Hyporeflexia0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0001265HP:0001265Hyporeflexia0B4GAT1 CL E G H11041899ORPHA116615685605517
HP:0001265HP:0001265Hyporeflexia0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0001265HP:0001265Hyporeflexia0BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001265HP:0001265Hyporeflexia0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM159017208609797
HP:0001265HP:0001265Hyporeflexia0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM124916512606412
HP:0001265HP:0001265Hyporeflexia0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0001265HP:0001265Hyporeflexia0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0001265HP:0001265Hyporeflexia0CACNA1A CL E G H773442835ORPHA126891388601011
HP:0001265HP:0001265Hyporeflexia0CACNA1S CL E G H77979102ORPHA115041397114208
HP:0001265HP:0001265Hyporeflexia0CFL2 CL E G H1073171436ORPHA11471875601443
HP:0001265HP:0001265Hyporeflexia0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0001265HP:0001265Hyporeflexia0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM124815559615903
HP:0001265HP:0001265Hyporeflexia0CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0001265HP:0001265Hyporeflexia0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11842026602024
HP:0001265HP:0001265Hyporeflexia0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13692027602023
HP:0001265HP:0001265Hyporeflexia0CLTC CL E G H1213442835ORPHA13902092118955
HP:0001265HP:0001265Hyporeflexia0CNKSR2 CL E G H22866442835ORPHA126419701300724
HP:0001265HP:0001265Hyporeflexia0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001265HP:0001265Hyporeflexia0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0001265HP:0001265Hyporeflexia0COL4A1 CL E G H1282899ORPHA112582202120130
HP:0001265HP:0001265Hyporeflexia0COLQ CL E G H829298915ORPHA14652226603033
HP:0001265HP:0001265Hyporeflexia0COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1742277602072
HP:0001265HP:0001265Hyporeflexia0CRYAB CL E G H1410399058ORPHA12302389123590
HP:0001265HP:0001265Hyporeflexia0CYFIP2 CL E G H26999442835ORPHA141613760606323
HP:0001265HP:0001265Hyporeflexia0DAG1 CL E G H1605899ORPHA14962666128239
HP:0001265HP:0001265Hyporeflexia0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0001265HP:0001265Hyporeflexia0DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0001265HP:0001265Hyporeflexia0DEAF1 CL E G H10522819ORPHA145214677602635
HP:0001265HP:0001265Hyporeflexia0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0001265HP:0001265Hyporeflexia0DHDDS CL E G H79947442835ORPHA131820603608172
HP:0001265HP:0001265Hyporeflexia0DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM173702928300377
HP:0001265HP:0001265Hyporeflexia0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0001265HP:0001265Hyporeflexia0DNAJC6 CL E G H9829391411ORPHA123515469608375
HP:0001265HP:0001265Hyporeflexia0DNM1 CL E G H1759442835ORPHA16222972602377
HP:0001265HP:0001265Hyporeflexia0DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0001265HP:0001265Hyporeflexia0DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM19952976126375
HP:0001265HP:0001265Hyporeflexia0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM129742961600112
HP:0001265HP:0001265Hyporeflexia0DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM129742961600112
HP:0001265HP:0001265Hyporeflexia0EEF1A2 CL E G H1917442835ORPHA14933192602959
HP:0001265HP:0001265Hyporeflexia0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0001265HP:0001265Hyporeflexia0ELOVL4 CL E G H67851955ORPHA124214415605512
HP:0001265HP:0001265Hyporeflexia0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM124214415605512
HP:0001265HP:0001265Hyporeflexia0ELP1 CL E G H85181764ORPHA114585959603722
HP:0001265HP:0001265Hyporeflexia0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM114585959603722
HP:0001265HP:0001265Hyporeflexia0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM111963434126340
HP:0001265HP:0001265Hyporeflexia0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM111703438609413
HP:0001265HP:0001265Hyporeflexia0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0001265HP:0001265Hyporeflexia0FBN1 CL E G H2200284979ORPHA159703603134797
HP:0001265HP:0001265Hyporeflexia0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM17330546614585
HP:0001265HP:0001265Hyporeflexia0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM165919125611104
HP:0001265HP:0001265Hyporeflexia0FGF12 CL E G H2257442835ORPHA12103668601513
HP:0001265HP:0001265Hyporeflexia0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0001265HP:0001265Hyporeflexia0FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0001265HP:0001265Hyporeflexia0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0001265HP:0001265Hyporeflexia0FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM174916873609390
HP:0001265HP:0001265Hyporeflexia0FKRP CL E G H79147899ORPHA178717997606596
HP:0001265HP:0001265Hyporeflexia0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM178717997606596
HP:0001265HP:0001265Hyporeflexia0FKTN CL E G H2218899ORPHA17833622607440
HP:0001265HP:0001265Hyporeflexia0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0001265HP:0001265Hyporeflexia0FLII CL E G H2314819ORPHA11543750600362
HP:0001265HP:0001265Hyporeflexia0FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM134553756102565
HP:0001265HP:0001265Hyporeflexia0FMR1 CL E G H233293256ORPHA13383775309550
HP:0001265HP:0001265Hyporeflexia0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13383775309550
HP:0001265HP:0001265Hyporeflexia0FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM14094010137070
HP:0001265HP:0001265Hyporeflexia0GABRA3 CL E G H255679102ORPHA12124077305660
HP:0001265HP:0001265Hyporeflexia0GABRB2 CL E G H2561442835ORPHA14214082600232
HP:0001265HP:0001265Hyporeflexia0GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0001265HP:0001265Hyporeflexia0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11624208238330
HP:0001265HP:0001265Hyporeflexia0GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0001265HP:0001265Hyporeflexia0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0001265HP:0001265Hyporeflexia0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0001265HP:0001265Hyporeflexia0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM118164313238300
HP:0001265HP:0001265Hyporeflexia0GNB4 CL E G H59345615185Charcot-Marie-Tooth disease, dominant intermediate F615185C3554654OMIM122120731610863
HP:0001265HP:0001265Hyporeflexia0GRIN2D CL E G H2906442835ORPHA15194588602717
HP:0001265HP:0001265Hyporeflexia0HCN1 CL E G H348980442835ORPHA16354845602780
HP:0001265HP:0001265Hyporeflexia0HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM13914922142600
HP:0001265HP:0001265Hyporeflexia0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12485037607137
HP:0001265HP:0001265Hyporeflexia0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0001265HP:0001265Hyporeflexia0HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0001265HP:0001265Hyporeflexia0HSPG2 CL E G H3339800ORPHA118305273142461
HP:0001265HP:0001265Hyporeflexia0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0001265HP:0001265Hyporeflexia0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM128929685612801
HP:0001265HP:0001265Hyporeflexia0IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM19965542600502
HP:0001265HP:0001265Hyporeflexia0IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM19965542600502
HP:0001265HP:0001265Hyporeflexia0INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1115023791610982
HP:0001265HP:0001265Hyporeflexia0IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0001265HP:0001265Hyporeflexia0ISPD CL E G H729920899ORPHA164737276614631
HP:0001265HP:0001265Hyporeflexia0KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM16215601421
HP:0001265HP:0001265Hyporeflexia0KBTBD13 CL E G H390594171439ORPHA143137227613727
HP:0001265HP:0001265Hyporeflexia0KCNA2 CL E G H3737442835ORPHA13256220176262
HP:0001265HP:0001265Hyporeflexia0KCNB1 CL E G H3745442835ORPHA15186231600397
HP:0001265HP:0001265Hyporeflexia0KCND3 CL E G H375298772ORPHA13996239605411
HP:0001265HP:0001265Hyporeflexia0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM13996239605411
HP:0001265HP:0001265Hyporeflexia0KCNJ18 CL E G H10013444479102ORPHA11139080613236
HP:0001265HP:0001265Hyporeflexia0KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM182819960610178
HP:0001265HP:0001265Hyporeflexia0KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12132888601255
HP:0001265HP:0001265Hyporeflexia0KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12132888601255
HP:0001265HP:0001265Hyporeflexia0KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0001265HP:0001265Hyporeflexia0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0001265HP:0001265Hyporeflexia0KLHL41 CL E G H10324171433ORPHA122016905607701
HP:0001265HP:0001265Hyporeflexia0KLHL41 CL E G H10324171439ORPHA122016905607701
HP:0001265HP:0001265Hyporeflexia0KLHL41 CL E G H10324171436ORPHA122016905607701
HP:0001265HP:0001265Hyporeflexia0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM18726576605739
HP:0001265HP:0001265Hyporeflexia0LAMB2 CL E G H391398915ORPHA16776487150325
HP:0001265HP:0001265Hyporeflexia0LARGE1 CL E G H9215899ORPHA16586511603590
HP:0001265HP:0001265Hyporeflexia0LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM127016841603795
HP:0001265HP:0001265Hyporeflexia0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0001265HP:0001265Hyporeflexia0LMOD3 CL E G H56203171436ORPHA13266649616112
HP:0001265HP:0001265Hyporeflexia0LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM140113345605518
HP:0001265HP:0001265Hyporeflexia0LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM17906696604270
HP:0001265HP:0001265Hyporeflexia0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM170725135610933
HP:0001265HP:0001265Hyporeflexia0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM117541968606897
HP:0001265HP:0001265Hyporeflexia0MAG CL E G H4099459056ORPHA11716783159460
HP:0001265HP:0001265Hyporeflexia0MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM17216946603294
HP:0001265HP:0001265Hyporeflexia0MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM152528845610197
HP:0001265HP:0001265Hyporeflexia0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM179429634612453
HP:0001265HP:0001265Hyporeflexia0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0001265HP:0001265Hyporeflexia0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1106316877608507
HP:0001265HP:0001265Hyporeflexia0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0001265HP:0001265Hyporeflexia0MGME1 CL E G H92667352447ORPHA17816205615076
HP:0001265HP:0001265Hyporeflexia0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17816205615076
HP:0001265HP:0001265Hyporeflexia0MME CL E G H4311497764ORPHA14227154120520
HP:0001265HP:0001265Hyporeflexia0MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM14227154120520
HP:0001265HP:0001265Hyporeflexia0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0001265HP:0001265Hyporeflexia0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12007224137960
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H43593115ORPHA15577225159440
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM15577225159440
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM15577225159440
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM15577225159440
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM15577225159440
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM15577225159440
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM15577225159440
HP:0001265HP:0001265Hyporeflexia0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15577225159440
HP:0001265HP:0001265Hyporeflexia0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM117297230600814
HP:0001265HP:0001265Hyporeflexia0MSTO1 CL E G H55154502423ORPHA18529678617619
HP:0001265HP:0001265Hyporeflexia0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM18529678617619
HP:0001265HP:0001265Hyporeflexia0MT-TE CL E G H4556254864ORPHA17479590025
HP:0001265HP:0001265Hyporeflexia0MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001265HP:0001265Hyporeflexia0MTPAP CL E G H55149613672Ataxia, spastic, 4, autosomal recessive613672C3150925OMIM119925532613669
HP:0001265HP:0001265Hyporeflexia0MYH14 CL E G H79784397744ORPHA185723212608568
HP:0001265HP:0001265Hyporeflexia0MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM185723212608568
HP:0001265HP:0001265Hyporeflexia0MYOT CL E G H949998911ORPHA129512399604103
HP:0001265HP:0001265Hyporeflexia0MYPN CL E G H84665171439ORPHA1126323246608517
HP:0001265HP:0001265Hyporeflexia0NAGLU CL E G H4669616491Charcot-Marie-Tooth disease, axonal type 2V616491C4225306OMIM17757632609701
HP:0001265HP:0001265Hyporeflexia0NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM16427679605262
HP:0001265HP:0001265Hyporeflexia0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11797693603834
HP:0001265HP:0001265Hyporeflexia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0001265HP:0001265Hyporeflexia0NEB CL E G H4703171436ORPHA164447720161650
HP:0001265HP:0001265Hyporeflexia0NEB CL E G H4703171439ORPHA164447720161650
HP:0001265HP:0001265Hyporeflexia0NEB CL E G H4703171433ORPHA164447720161650
HP:0001265HP:0001265Hyporeflexia0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0001265HP:0001265Hyporeflexia0NECAP1 CL E G H25977442835ORPHA116724539611623
HP:0001265HP:0001265Hyporeflexia0NEFH CL E G H4744616924Charcot-Marie-Tooth disease, axonal, type 2CC616924C4310790OMIM14657737162230
HP:0001265HP:0001265Hyporeflexia0NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM15437739162280
HP:0001265HP:0001265Hyporeflexia0NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM15437739162280
HP:0001265HP:0001265Hyporeflexia0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM15437739162280
HP:0001265HP:0001265Hyporeflexia0NTRK2 CL E G H4915442835ORPHA13338032600456
HP:0001265HP:0001265Hyporeflexia0NUS1 CL E G H116150442835ORPHA122021042610463
HP:0001265HP:0001265Hyporeflexia0OTOG CL E G H340990614945Deafness, autosomal recessive 18b614945C3554163OMIM19518516604487
HP:0001265HP:0001265Hyporeflexia0PDK3 CL E G H5165300905Charcot-Marie-Tooth disease, X-linked dominant, 6300905C3806702OMIM12948811300906
HP:0001265HP:0001265Hyporeflexia0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM112058850602136
HP:0001265HP:0001265Hyporeflexia0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM13608854601758
HP:0001265HP:0001265Hyporeflexia0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM13669717170993
HP:0001265HP:0001265Hyporeflexia0PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM16899719600414
HP:0001265HP:0001265Hyporeflexia0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM14418860601757
HP:0001265HP:0001265Hyporeflexia0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM12658907172100
HP:0001265HP:0001265Hyporeflexia0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM13038940602026
HP:0001265HP:0001265Hyporeflexia0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM185525985616918
HP:0001265HP:0001265Hyporeflexia0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA18578967606097
HP:0001265HP:0001265Hyporeflexia0PIGN CL E G H23556614080Multiple congenital anomalies-hypotonia-seizures syndrome 1614080C3279775OMIM18578967606097
HP:0001265HP:0001265Hyporeflexia0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM14830035611317
HP:0001265HP:0001265Hyporeflexia0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM16099115601785
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H537698916ORPHA14539118601097
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H53763115ORPHA14539118601097
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H5376101081ORPHA14539118601097
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14539118601097
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14539118601097
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14539118601097
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM14539118601097
HP:0001265HP:0001265Hyporeflexia0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14539118601097
HP:0001265HP:0001265Hyporeflexia0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM194316268603197
HP:0001265HP:0001265Hyporeflexia0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM152623166610316
HP:0001265HP:0001265Hyporeflexia0PODXL CL E G H5420391411ORPHA11349171602632
HP:0001265HP:0001265Hyporeflexia0POLG CL E G H542870595ORPHA119179179174763
HP:0001265HP:0001265Hyporeflexia0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM119179179174763
HP:0001265HP:0001265Hyporeflexia0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0001265HP:0001265Hyporeflexia0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0001265HP:0001265Hyporeflexia0POMGNT1 CL E G H55624899ORPHA194319139606822
HP:0001265HP:0001265Hyporeflexia0POMGNT2 CL E G H84892899ORPHA134625902614828
HP:0001265HP:0001265Hyporeflexia0POMK CL E G H84197899ORPHA124426267615247
HP:0001265HP:0001265Hyporeflexia0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM124426267615247
HP:0001265HP:0001265Hyporeflexia0POMT1 CL E G H10585899ORPHA17379202607423
HP:0001265HP:0001265Hyporeflexia0POMT2 CL E G H29954899ORPHA176619743607439
HP:0001265HP:0001265Hyporeflexia0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0001265HP:0001265Hyporeflexia0PPP3CA CL E G H5530442835ORPHA12339314114105
HP:0001265HP:0001265Hyporeflexia0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1107913797605725
HP:0001265HP:0001265Hyporeflexia0PSAP CL E G H5660309271ORPHA15989498176801
HP:0001265HP:0001265Hyporeflexia0PSAP CL E G H5660309256ORPHA15989498176801
HP:0001265HP:0001265Hyporeflexia0PSAP CL E G H5660309263ORPHA15989498176801
HP:0001265HP:0001265Hyporeflexia0PSAP CL E G H5660611722Krabbe disease atypical due to Saposin A deficiency611722C2673266OMIM15989498176801
HP:0001265HP:0001265Hyporeflexia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM15989498176801
HP:0001265HP:0001265Hyporeflexia0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM144326162617220
HP:0001265HP:0001265Hyporeflexia0RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11769788602298
HP:0001265HP:0001265Hyporeflexia0RAI1 CL E G H10743819ORPHA111499834607642
HP:0001265HP:0001265Hyporeflexia0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM111499834607642
HP:0001265HP:0001265Hyporeflexia0REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM137725786609139
HP:0001265HP:0001265Hyporeflexia0RETREG1 CL E G H54463201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM145325964613114
HP:0001265HP:0001265Hyporeflexia0RETREG1 CL E G H54463613115Hereditary sensory and autonomic neuropathy type IIB613115C2751092OMIM145325964613114
HP:0001265HP:0001265Hyporeflexia0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM119321176614917
HP:0001265HP:0001265Hyporeflexia0RNF170 CL E G H81790608984Ataxia, sensory, autosomal dominant608984C1837015OMIM16825358614649
HP:0001265HP:0001265Hyporeflexia0RUBCN CL E G H9711404499ORPHA111828991613516
HP:0001265HP:0001265Hyporeflexia0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM111828991613516
HP:0001265HP:0001265Hyporeflexia0RXYLT1 CL E G H10329899ORPHA121313530605862
HP:0001265HP:0001265Hyporeflexia0RYR1 CL E G H6261324581ORPHA1506210483180901
HP:0001265HP:0001265Hyporeflexia0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM112262135607697
HP:0001265HP:0001265Hyporeflexia0SCN3A CL E G H6328442835ORPHA1109610590182391
HP:0001265HP:0001265Hyporeflexia0SCN8A CL E G H6334442835ORPHA1149410596600702
HP:0001265HP:0001265Hyporeflexia0SCN9A CL E G H6335201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1190710597603415
HP:0001265HP:0001265Hyporeflexia0SCN9A CL E G H6335243000Indifference to pain, congenital, autosomal recessive243000C1855739OMIM1190710597603415
HP:0001265HP:0001265Hyporeflexia0SCYL1 CL E G H57410466794ORPHA17314372607982
HP:0001265HP:0001265Hyporeflexia0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM17314372607982
HP:0001265HP:0001265Hyporeflexia0SELENON CL E G H5719097244ORPHA153715999606210
HP:0001265HP:0001265Hyporeflexia0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM177614294606230
HP:0001265HP:0001265Hyporeflexia0SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12068157601978
HP:0001265HP:0001265Hyporeflexia0SLC13A5 CL E G H284111442835ORPHA156823089608305
HP:0001265HP:0001265Hyporeflexia0SLC1A2 CL E G H6506442835ORPHA123610940600300
HP:0001265HP:0001265Hyporeflexia0SLC25A19 CL E G H60386613710Striatal necrosis, bilateral, and progressive polyneuropathy613710C3150973OMIM113614409606521
HP:0001265HP:0001265Hyporeflexia0SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM127810990103220
HP:0001265HP:0001265Hyporeflexia0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM132525198610826
HP:0001265HP:0001265Hyporeflexia0SLC52A2 CL E G H7958197229ORPHA145830224607882
HP:0001265HP:0001265Hyporeflexia0SLC52A3 CL E G H11327897229ORPHA139916187613350
HP:0001265HP:0001265Hyporeflexia0SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM137514025608761
HP:0001265HP:0001265Hyporeflexia0SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120811117600354
HP:0001265HP:0001265Hyporeflexia0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM174711120607608
HP:0001265HP:0001265Hyporeflexia0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM113230587608241
HP:0001265HP:0001265Hyporeflexia0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0001265HP:0001265Hyporeflexia0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM130211190602229
HP:0001265HP:0001265Hyporeflexia0SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM133111277605712
HP:0001265HP:0001265Hyporeflexia0SQSTM1 CL E G H8878616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3616437C4225326OMIM154211280601530
HP:0001265HP:0001265Hyporeflexia0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM118828423615521
HP:0001265HP:0001265Hyporeflexia0STXBP1 CL E G H6812442835ORPHA187111444602926
HP:0001265HP:0001265Hyporeflexia0SUCLA2 CL E G H88031933ORPHA130911448603921
HP:0001265HP:0001265Hyporeflexia0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM130911448603921
HP:0001265HP:0001265Hyporeflexia0SYNGAP1 CL E G H8831442835ORPHA1108611497603384
HP:0001265HP:0001265Hyporeflexia0SYNJ1 CL E G H8867442835ORPHA1104611503604297
HP:0001265HP:0001265Hyporeflexia0SYNJ1 CL E G H8867391411ORPHA1104611503604297
HP:0001265HP:0001265Hyporeflexia0SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM116011510600104
HP:0001265HP:0001265Hyporeflexia0SZT2 CL E G H23334442835ORPHA1234229040615463
HP:0001265HP:0001265Hyporeflexia0SZT2 CL E G H23334615476Early infantile epileptic encephalopathy 18615476C3809624OMIM1234229040615463
HP:0001265HP:0001265Hyporeflexia0TBC1D24 CL E G H5746579500ORPHA179529203613577
HP:0001265HP:0001265Hyporeflexia0TBC1D24 CL E G H57465220500Digitorenocerebral syndrome220500C1857345OMIM179529203613577
HP:0001265HP:0001265Hyporeflexia0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM148228261616899
HP:0001265HP:0001265Hyporeflexia0TBK1 CL E G H29110616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4616439C4225325OMIM129411584604834
HP:0001265HP:0001265Hyporeflexia0TGFB3 CL E G H7043615582Loeys-Dietz syndrome 5615582C3810012OMIM146911769190230
HP:0001265HP:0001265Hyporeflexia0TK2 CL E G H7084254875ORPHA135611831188250
HP:0001265HP:0001265Hyporeflexia0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM119225186616101
HP:0001265HP:0001265Hyporeflexia0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM114412009190450
HP:0001265HP:0001265Hyporeflexia0TPM2 CL E G H7169171436ORPHA128012011190990
HP:0001265HP:0001265Hyporeflexia0TPM2 CL E G H7169171439ORPHA128012011190990
HP:0001265HP:0001265Hyporeflexia0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM128012011190990
HP:0001265HP:0001265Hyporeflexia0TPM3 CL E G H7170171439ORPHA130012012191030
HP:0001265HP:0001265Hyporeflexia0TPM3 CL E G H7170171433ORPHA130012012191030
HP:0001265HP:0001265Hyporeflexia0TRAK1 CL E G H22906442835ORPHA110629947608112
HP:0001265HP:0001265Hyporeflexia0TRAPPC11 CL E G H60684369840ORPHA177425751614138
HP:0001265HP:0001265Hyporeflexia0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM151616380602290
HP:0001265HP:0001265Hyporeflexia0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM19823141611023
HP:0001265HP:0001265Hyporeflexia0TRMU CL E G H55687254864ORPHA151825481610230
HP:0001265HP:0001265Hyporeflexia0TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM189118083605427
HP:0001265HP:0001265Hyporeflexia0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM189118083605427
HP:0001265HP:0001265Hyporeflexia0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM189118083605427
HP:0001265HP:0001265Hyporeflexia0TSPYL1 CL E G H7259168593ORPHA14812382604714
HP:0001265HP:0001265Hyporeflexia0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM134112405176300
HP:0001265HP:0001265Hyporeflexia0TUBA8 CL E G H51807613180Polymicrogyria with optic nerve hypoplasia613180C2750798OMIM124212410605742
HP:0001265HP:0001265Hyporeflexia0TWNK CL E G H5665270595ORPHA13081160606075
HP:0001265HP:0001265Hyporeflexia0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM13081160606075
HP:0001265HP:0001265Hyporeflexia0TWNK CL E G H56652616138Perrault syndrome 5616138C4015307OMIM13081160606075
HP:0001265HP:0001265Hyporeflexia0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM13081160606075
HP:0001265HP:0001265Hyporeflexia0UBA5 CL E G H79876442835ORPHA115723230610552
HP:0001265HP:0001265Hyporeflexia0VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM131912649605704
HP:0001265HP:0001265Hyporeflexia0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM117351908605978
HP:0001265HP:0001265Hyporeflexia0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM126626600614218
HP:0001265HP:0001265Hyporeflexia0WNK1 CL E G H65125201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM1144814540605232
HP:0001265HP:0001265Hyporeflexia0WWOX CL E G H51741442835ORPHA196712799605131
HP:0001265HP:0001265Hyporeflexia0WWOX CL E G H51741284282ORPHA196712799605131
HP:0001265HP:0001265Hyporeflexia0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM196712799605131
HP:0001265HP:0001265Hyporeflexia0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM127612814611153
HP:0001265HP:0001265Hyporeflexia0YWHAG CL E G H7532442835ORPHA112812852605356
HP:0001265HP:0001265Hyporeflexia0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM146629316615951
HP:0001265HP:0002600Hyporeflexia of lower limbs1AARS CL E G H16442835ORPHA120601065
HP:0001265HP:0012392Jaw hyporeflexia1AARS CL E G H16442835ORPHA120601065
HP:0001265HP:0012391Hyporeflexia of upper limbs1AARS CL E G H16442835ORPHA120601065
HP:0001265HP:0002600Hyporeflexia of lower limbs1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0001265HP:0012392Jaw hyporeflexia1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0001265HP:0012391Hyporeflexia of upper limbs1ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM199329600046
HP:0001265HP:0002600Hyporeflexia of lower limbs1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001265HP:0012392Jaw hyporeflexia1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001265HP:0012391Hyporeflexia of upper limbs1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001265HP:0012392Jaw hyporeflexia1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001265HP:0012391Hyporeflexia of upper limbs1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001265HP:0002600Hyporeflexia of lower limbs1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001265HP:0002600Hyporeflexia of lower limbs1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0001265HP:0002600Hyporeflexia of lower limbs1ACTA1 CL E G H58171433ORPHA1392129102610
HP:0001265HP:0012392Jaw hyporeflexia1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0001265HP:0012392Jaw hyporeflexia1ACTA1 CL E G H58171433ORPHA1392129102610
HP:0001265HP:0012391Hyporeflexia of upper limbs1ACTA1 CL E G H58171436ORPHA1392129102610
HP:0001265HP:0012391Hyporeflexia of upper limbs1ACTA1 CL E G H58171433ORPHA1392129102610
HP:0001265HP:0002600Hyporeflexia of lower limbs1ACTA1 CL E G H58171439ORPHA1392129102610
HP:0001265HP:0002600Hyporeflexia of lower limbs1ACTA1 CL E G H5897244ORPHA1392129102610
HP:0001265HP:0012392Jaw hyporeflexia1ACTA1 CL E G H58171439ORPHA1392129102610
HP:0001265HP:0012391Hyporeflexia of upper limbs1ACTA1 CL E G H58171439ORPHA1392129102610
HP:0001265HP:0012392Jaw hyporeflexia1ACTA1 CL E G H5897244ORPHA1392129102610
HP:0001265HP:0012391Hyporeflexia of upper limbs1ACTA1 CL E G H5897244ORPHA1392129102610
HP:0001265HP:0002600Hyporeflexia of lower limbs1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0001265HP:0012392Jaw hyporeflexia1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0001265HP:0012391Hyporeflexia of upper limbs1ACTA1 CL E G H58616852Myopathy, scapulohumeroperoneal616852C4225181OMIM1392129102610
HP:0001265HP:0002600Hyporeflexia of lower limbs1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0001265HP:0012391Hyporeflexia of upper limbs1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0001265HP:0012392Jaw hyporeflexia1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0001265HP:0002600Hyporeflexia of lower limbs1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14878768300169
HP:0001265HP:0012391Hyporeflexia of upper limbs1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14878768300169
HP:0001265HP:0012392Jaw hyporeflexia1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14878768300169
HP:0001265HP:0002600Hyporeflexia of lower limbs1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0001265HP:0012392Jaw hyporeflexia1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0001265HP:0012391Hyporeflexia of upper limbs1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0001265HP:0002600Hyporeflexia of lower limbs1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1457473238310
HP:0001265HP:0012392Jaw hyporeflexia1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1457473238310
HP:0001265HP:0012391Hyporeflexia of upper limbs1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1457473238310
HP:0001265HP:0012391Hyporeflexia of upper limbs1AP3B2 CL E G H8120442835ORPHA1437567602166
HP:0001265HP:0012392Jaw hyporeflexia1AP3B2 CL E G H8120442835ORPHA1437567602166
HP:0001265HP:0002600Hyporeflexia of lower limbs1AP3B2 CL E G H8120442835ORPHA1437567602166
HP:0001265HP:0002600Hyporeflexia of lower limbs1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001265HP:0012392Jaw hyporeflexia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001265HP:0012391Hyporeflexia of upper limbs1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001265HP:0012392Jaw hyporeflexia1AR CL E G H367481ORPHA1556644313700
HP:0001265HP:0012391Hyporeflexia of upper limbs1AR CL E G H367481ORPHA1556644313700
HP:0001265HP:0002600Hyporeflexia of lower limbs1AR CL E G H367481ORPHA1556644313700
HP:0001265HP:0002600Hyporeflexia of lower limbs1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0001265HP:0012392Jaw hyporeflexia1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0001265HP:0012391Hyporeflexia of upper limbs1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1556644313700
HP:0001265HP:0012392Jaw hyporeflexia1ARSA CL E G H410309263ORPHA1953713607574
HP:0001265HP:0012391Hyporeflexia of upper limbs1ARSA CL E G H410309263ORPHA1953713607574
HP:0001265HP:0002600Hyporeflexia of lower limbs1ARSA CL E G H410309271ORPHA1953713607574
HP:0001265HP:0002600Hyporeflexia of lower limbs1ARSA CL E G H410309256ORPHA1953713607574
HP:0001265HP:0012392Jaw hyporeflexia1ARSA CL E G H410309271ORPHA1953713607574
HP:0001265HP:0012392Jaw hyporeflexia1ARSA CL E G H410309256ORPHA1953713607574
HP:0001265HP:0012391Hyporeflexia of upper limbs1ARSA CL E G H410309271ORPHA1953713607574
HP:0001265HP:0012391Hyporeflexia of upper limbs1ARSA CL E G H410309256ORPHA1953713607574
HP:0001265HP:0002600Hyporeflexia of lower limbs1ARSA CL E G H410309263ORPHA1953713607574
HP:0001265HP:0002600Hyporeflexia of lower limbs1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1953713607574
HP:0001265HP:0012392Jaw hyporeflexia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1953713607574
HP:0001265HP:0012391Hyporeflexia of upper limbs1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1953713607574
HP:0001265HP:0002600Hyporeflexia of lower limbs1ARV1 CL E G H64801442835ORPHA17129561611647
HP:0001265HP:0012392Jaw hyporeflexia1ARV1 CL E G H64801442835ORPHA17129561611647
HP:0001265HP:0012391Hyporeflexia of upper limbs1ARV1 CL E G H64801442835ORPHA17129561611647
HP:0001265HP:0002600Hyporeflexia of lower limbs1ATN1 CL E G H1822101ORPHA11133033607462
HP:0001265HP:0012392Jaw hyporeflexia1ATN1 CL E G H1822101ORPHA11133033607462
HP:0001265HP:0012391Hyporeflexia of upper limbs1ATN1 CL E G H1822101ORPHA11133033607462
HP:0001265HP:0002600Hyporeflexia of lower limbs1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1272799182310
HP:0001265HP:0012392Jaw hyporeflexia1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1272799182310
HP:0001265HP:0012391Hyporeflexia of upper limbs1ATP1A1 CL E G H476618036CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD618036CN248781OMIM1272799182310
HP:0001265HP:0002600Hyporeflexia of lower limbs1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001265HP:0012392Jaw hyporeflexia1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001265HP:0012391Hyporeflexia of upper limbs1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001265HP:0002600Hyporeflexia of lower limbs1ATP6V1A CL E G H523442835ORPHA1123851607027
HP:0001265HP:0012391Hyporeflexia of upper limbs1ATP6V1A CL E G H523442835ORPHA1123851607027
HP:0001265HP:0012392Jaw hyporeflexia1ATP6V1A CL E G H523442835ORPHA1123851607027
HP:0001265HP:0012391Hyporeflexia of upper limbs1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0001265HP:0012392Jaw hyporeflexia1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0001265HP:0002600Hyporeflexia of lower limbs1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0001265HP:0002600Hyporeflexia of lower limbs1ATXN2 CL E G H631198756ORPHA15310555601517
HP:0001265HP:0012392Jaw hyporeflexia1ATXN2 CL E G H631198756ORPHA15310555601517
HP:0001265HP:0012391Hyporeflexia of upper limbs1ATXN2 CL E G H631198756ORPHA15310555601517
HP:0001265HP:0012392Jaw hyporeflexia1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0001265HP:0012391Hyporeflexia of upper limbs1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0001265HP:0002600Hyporeflexia of lower limbs1ATXN2 CL E G H6311183090Spinocerebellar ataxia 2183090C0752121OMIM15310555601517
HP:0001265HP:0002600Hyporeflexia of lower limbs1B3GALNT2 CL E G H148789899ORPHA146228596610194
HP:0001265HP:0012391Hyporeflexia of upper limbs1B3GALNT2 CL E G H148789899ORPHA146228596610194
HP:0001265HP:0012392Jaw hyporeflexia1B3GALNT2 CL E G H148789899ORPHA146228596610194
HP:0001265HP:0002600Hyporeflexia of lower limbs1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0001265HP:0012392Jaw hyporeflexia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0001265HP:0012391Hyporeflexia of upper limbs1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0001265HP:0002600Hyporeflexia of lower limbs1B4GAT1 CL E G H11041899ORPHA116615685605517
HP:0001265HP:0012392Jaw hyporeflexia1B4GAT1 CL E G H11041899ORPHA116615685605517
HP:0001265HP:0012391Hyporeflexia of upper limbs1B4GAT1 CL E G H11041899ORPHA116615685605517
HP:0001265HP:0012391Hyporeflexia of upper limbs1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0001265HP:0012392Jaw hyporeflexia1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0001265HP:0002600Hyporeflexia of lower limbs1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1856939603883
HP:0001265HP:0012392Jaw hyporeflexia1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001265HP:0012391Hyporeflexia of upper limbs1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001265HP:0002600Hyporeflexia of lower limbs1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001265HP:0002600Hyporeflexia of lower limbs1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM159017208609797
HP:0001265HP:0012391Hyporeflexia of upper limbs1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM159017208609797
HP:0001265HP:0012392Jaw hyporeflexia1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM159017208609797
HP:0001265HP:0002600Hyporeflexia of lower limbs1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM124916512606412
HP:0001265HP:0012392Jaw hyporeflexia1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM124916512606412
HP:0001265HP:0012391Hyporeflexia of upper limbs1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM124916512606412
HP:0001265HP:0002600Hyporeflexia of lower limbs1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0001265HP:0012392Jaw hyporeflexia1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0001265HP:0012391Hyporeflexia of upper limbs1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM127625443614297
HP:0001265HP:0012391Hyporeflexia of upper limbs1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0001265HP:0012392Jaw hyporeflexia1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0001265HP:0002600Hyporeflexia of lower limbs1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM127625443614297
HP:0001265HP:0002600Hyporeflexia of lower limbs1CACNA1A CL E G H773442835ORPHA126891388601011
HP:0001265HP:0012392Jaw hyporeflexia1CACNA1A CL E G H773442835ORPHA126891388601011
HP:0001265HP:0012391Hyporeflexia of upper limbs1CACNA1A CL E G H773442835ORPHA126891388601011
HP:0001265HP:0002600Hyporeflexia of lower limbs1CACNA1S CL E G H77979102ORPHA115041397114208
HP:0001265HP:0012391Hyporeflexia of upper limbs1CACNA1S CL E G H77979102ORPHA115041397114208
HP:0001265HP:0012392Jaw hyporeflexia1CACNA1S CL E G H77979102ORPHA115041397114208
HP:0001265HP:0012392Jaw hyporeflexia1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0001265HP:0012391Hyporeflexia of upper limbs1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0001265HP:0002600Hyporeflexia of lower limbs1CFL2 CL E G H1073171436ORPHA11471875601443
HP:0001265HP:0002600Hyporeflexia of lower limbs1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0001265HP:0012392Jaw hyporeflexia1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0001265HP:0012391Hyporeflexia of upper limbs1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM124815559615903
HP:0001265HP:0002600Hyporeflexia of lower limbs1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM124815559615903
HP:0001265HP:0012392Jaw hyporeflexia1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM124815559615903
HP:0001265HP:0012391Hyporeflexia of upper limbs1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM124815559615903
HP:0001265HP:0002600Hyporeflexia of lower limbs1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0001265HP:0012392Jaw hyporeflexia1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0001265HP:0012391Hyporeflexia of upper limbs1CHMP2B CL E G H25978614696Amyotrophic lateral sclerosis 17614696C1836076OMIM114124537609512
HP:0001265HP:0002600Hyporeflexia of lower limbs1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11842026602024
HP:0001265HP:0012391Hyporeflexia of upper limbs1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11842026602024
HP:0001265HP:0012392Jaw hyporeflexia1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM11842026602024
HP:0001265HP:0002600Hyporeflexia of lower limbs1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13692027602023
HP:0001265HP:0012392Jaw hyporeflexia1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13692027602023
HP:0001265HP:0012391Hyporeflexia of upper limbs1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM13692027602023
HP:0001265HP:0012391Hyporeflexia of upper limbs1CLTC CL E G H1213442835ORPHA13902092118955
HP:0001265HP:0012392Jaw hyporeflexia1CLTC CL E G H1213442835ORPHA13902092118955
HP:0001265HP:0002600Hyporeflexia of lower limbs1CLTC CL E G H1213442835ORPHA13902092118955
HP:0001265HP:0002600Hyporeflexia of lower limbs1CNKSR2 CL E G H22866442835ORPHA126419701300724
HP:0001265HP:0012392Jaw hyporeflexia1CNKSR2 CL E G H22866442835ORPHA126419701300724
HP:0001265HP:0012391Hyporeflexia of upper limbs1CNKSR2 CL E G H22866442835ORPHA126419701300724
HP:0001265HP:0002600Hyporeflexia of lower limbs1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001265HP:0012392Jaw hyporeflexia1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001265HP:0012391Hyporeflexia of upper limbs1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001265HP:0002600Hyporeflexia of lower limbs1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0001265HP:0012392Jaw hyporeflexia1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0001265HP:0012391Hyporeflexia of upper limbs1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM117529932609855
HP:0001265HP:0002600Hyporeflexia of lower limbs1COL4A1 CL E G H1282899ORPHA112582202120130
HP:0001265HP:0012391Hyporeflexia of upper limbs1COL4A1 CL E G H1282899ORPHA112582202120130
HP:0001265HP:0012392Jaw hyporeflexia1COL4A1 CL E G H1282899ORPHA112582202120130
HP:0001265HP:0002600Hyporeflexia of lower limbs1COLQ CL E G H829298915ORPHA14652226603033
HP:0001265HP:0012392Jaw hyporeflexia1COLQ CL E G H829298915ORPHA14652226603033
HP:0001265HP:0012391Hyporeflexia of upper limbs1COLQ CL E G H829298915ORPHA14652226603033
HP:0001265HP:0002600Hyporeflexia of lower limbs1COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1742277602072
HP:0001265HP:0012392Jaw hyporeflexia1COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1742277602072
HP:0001265HP:0012391Hyporeflexia of upper limbs1COX6A1 CL E G H1337616039Charcot-Marie-Tooth disease, recessive intermediate d616039C4015029OMIM1742277602072
HP:0001265HP:0002600Hyporeflexia of lower limbs1CRYAB CL E G H1410399058ORPHA12302389123590
HP:0001265HP:0012392Jaw hyporeflexia1CRYAB CL E G H1410399058ORPHA12302389123590
HP:0001265HP:0012391Hyporeflexia of upper limbs1CRYAB CL E G H1410399058ORPHA12302389123590
HP:0001265HP:0002600Hyporeflexia of lower limbs1CYFIP2 CL E G H26999442835ORPHA141613760606323
HP:0001265HP:0012391Hyporeflexia of upper limbs1CYFIP2 CL E G H26999442835ORPHA141613760606323
HP:0001265HP:0012392Jaw hyporeflexia1CYFIP2 CL E G H26999442835ORPHA141613760606323
HP:0001265HP:0002600Hyporeflexia of lower limbs1DAG1 CL E G H1605899ORPHA14962666128239
HP:0001265HP:0012391Hyporeflexia of upper limbs1DAG1 CL E G H1605899ORPHA14962666128239
HP:0001265HP:0012392Jaw hyporeflexia1DAG1 CL E G H1605899ORPHA14962666128239
HP:0001265HP:0002600Hyporeflexia of lower limbs1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0001265HP:0012392Jaw hyporeflexia1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0001265HP:0012391Hyporeflexia of upper limbs1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM129425538610956
HP:0001265HP:0012392Jaw hyporeflexia1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0001265HP:0012391Hyporeflexia of upper limbs1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0001265HP:0002600Hyporeflexia of lower limbs1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM13424891615820
HP:0001265HP:0002600Hyporeflexia of lower limbs1DEAF1 CL E G H10522819ORPHA145214677602635
HP:0001265HP:0012391Hyporeflexia of upper limbs1DEAF1 CL E G H10522819ORPHA145214677602635
HP:0001265HP:0012392Jaw hyporeflexia1DEAF1 CL E G H10522819ORPHA145214677602635
HP:0001265HP:0002600Hyporeflexia of lower limbs1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0001265HP:0012391Hyporeflexia of upper limbs1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0001265HP:0012392Jaw hyporeflexia1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0001265HP:0002600Hyporeflexia of lower limbs1DHDDS CL E G H79947442835ORPHA131820603608172
HP:0001265HP:0012392Jaw hyporeflexia1DHDDS CL E G H79947442835ORPHA131820603608172
HP:0001265HP:0012391Hyporeflexia of upper limbs1DHDDS CL E G H79947442835ORPHA131820603608172
HP:0001265HP:0002600Hyporeflexia of lower limbs1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM173702928300377
HP:0001265HP:0012392Jaw hyporeflexia1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM173702928300377
HP:0001265HP:0012391Hyporeflexia of upper limbs1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM173702928300377
HP:0001265HP:0002600Hyporeflexia of lower limbs1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0001265HP:0012392Jaw hyporeflexia1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0001265HP:0012391Hyporeflexia of upper limbs1DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM173702928300377
HP:0001265HP:0002600Hyporeflexia of lower limbs1DNAJC6 CL E G H9829391411ORPHA123515469608375
HP:0001265HP:0012392Jaw hyporeflexia1DNAJC6 CL E G H9829391411ORPHA123515469608375
HP:0001265HP:0012391Hyporeflexia of upper limbs1DNAJC6 CL E G H9829391411ORPHA123515469608375
HP:0001265HP:0012391Hyporeflexia of upper limbs1DNM1 CL E G H1759442835ORPHA16222972602377
HP:0001265HP:0012392Jaw hyporeflexia1DNM1 CL E G H1759442835ORPHA16222972602377
HP:0001265HP:0002600Hyporeflexia of lower limbs1DNM1 CL E G H1759442835ORPHA16222972602377
HP:0001265HP:0012392Jaw hyporeflexia1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0001265HP:0012391Hyporeflexia of upper limbs1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0001265HP:0002600Hyporeflexia of lower limbs1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM18852974602378
HP:0001265HP:0002600Hyporeflexia of lower limbs1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM19952976126375
HP:0001265HP:0012392Jaw hyporeflexia1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM19952976126375
HP:0001265HP:0012391Hyporeflexia of upper limbs1DNMT1 CL E G H1786614116Hereditary sensory neuropathy type IE614116C3279885OMIM19952976126375
HP:0001265HP:0012392Jaw hyporeflexia1DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM129742961600112
HP:0001265HP:0012391Hyporeflexia of upper limbs1DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM129742961600112
HP:0001265HP:0002600Hyporeflexia of lower limbs1DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM129742961600112
HP:0001265HP:0002600Hyporeflexia of lower limbs1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM129742961600112
HP:0001265HP:0012392Jaw hyporeflexia1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM129742961600112
HP:0001265HP:0012391Hyporeflexia of upper limbs1DYNC1H1 CL E G H1778614563Mental retardation, autosomal dominant 13614563C3281202OMIM129742961600112
HP:0001265HP:0002600Hyporeflexia of lower limbs1EEF1A2 CL E G H1917442835ORPHA14933192602959
HP:0001265HP:0012392Jaw hyporeflexia1EEF1A2 CL E G H1917442835ORPHA14933192602959
HP:0001265HP:0012391Hyporeflexia of upper limbs1EEF1A2 CL E G H1917442835ORPHA14933192602959
HP:0001265HP:0002600Hyporeflexia of lower limbs1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0001265HP:0012391Hyporeflexia of upper limbs1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0001265HP:0012392Jaw hyporeflexia1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13183239129010
HP:0001265HP:0002600Hyporeflexia of lower limbs1ELOVL4 CL E G H67851955ORPHA124214415605512
HP:0001265HP:0012392Jaw hyporeflexia1ELOVL4 CL E G H67851955ORPHA124214415605512
HP:0001265HP:0012391Hyporeflexia of upper limbs1ELOVL4 CL E G H67851955ORPHA124214415605512
HP:0001265HP:0012392Jaw hyporeflexia1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM124214415605512
HP:0001265HP:0012391Hyporeflexia of upper limbs1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM124214415605512
HP:0001265HP:0002600Hyporeflexia of lower limbs1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM124214415605512
HP:0001265HP:0002600Hyporeflexia of lower limbs1ELP1 CL E G H85181764ORPHA114585959603722
HP:0001265HP:0012392Jaw hyporeflexia1ELP1 CL E G H85181764ORPHA114585959603722
HP:0001265HP:0012391Hyporeflexia of upper limbs1ELP1 CL E G H85181764ORPHA114585959603722
HP:0001265HP:0002600Hyporeflexia of lower limbs1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM114585959603722
HP:0001265HP:0012392Jaw hyporeflexia1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM114585959603722
HP:0001265HP:0012391Hyporeflexia of upper limbs1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM114585959603722
HP:0001265HP:0012392Jaw hyporeflexia1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM111963434126340
HP:0001265HP:0012391Hyporeflexia of upper limbs1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM111963434126340
HP:0001265HP:0002600Hyporeflexia of lower limbs1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM111963434126340
HP:0001265HP:0002600Hyporeflexia of lower limbs1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM111703438609413
HP:0001265HP:0012392Jaw hyporeflexia1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM111703438609413
HP:0001265HP:0012391Hyporeflexia of upper limbs1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM111703438609413
HP:0001265HP:0002600Hyporeflexia of lower limbs1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0001265HP:0012392Jaw hyporeflexia1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0001265HP:0012391Hyporeflexia of upper limbs1EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0001265HP:0002600Hyporeflexia of lower limbs1FBN1 CL E G H2200284979ORPHA159703603134797
HP:0001265HP:0012392Jaw hyporeflexia1FBN1 CL E G H2200284979ORPHA159703603134797
HP:0001265HP:0012391Hyporeflexia of upper limbs1FBN1 CL E G H2200284979ORPHA159703603134797
HP:0001265HP:0012391Hyporeflexia of upper limbs1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM17330546614585
HP:0001265HP:0012392Jaw hyporeflexia1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM17330546614585
HP:0001265HP:0002600Hyporeflexia of lower limbs1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM17330546614585
HP:0001265HP:0002600Hyporeflexia of lower limbs1FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM165919125611104
HP:0001265HP:0012392Jaw hyporeflexia1FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM165919125611104
HP:0001265HP:0012391Hyporeflexia of upper limbs1FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM165919125611104
HP:0001265HP:0002600Hyporeflexia of lower limbs1FGF12 CL E G H2257442835ORPHA12103668601513
HP:0001265HP:0012392Jaw hyporeflexia1FGF12 CL E G H2257442835ORPHA12103668601513
HP:0001265HP:0012391Hyporeflexia of upper limbs1FGF12 CL E G H2257442835ORPHA12103668601513
HP:0001265HP:0002600Hyporeflexia of lower limbs1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0001265HP:0012392Jaw hyporeflexia1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0001265HP:0012391Hyporeflexia of upper limbs1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0001265HP:0012391Hyporeflexia of upper limbs1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0001265HP:0012392Jaw hyporeflexia1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0001265HP:0002600Hyporeflexia of lower limbs1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0001265HP:0002600Hyporeflexia of lower limbs1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0001265HP:0012391Hyporeflexia of upper limbs1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0001265HP:0012392Jaw hyporeflexia1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0001265HP:0002600Hyporeflexia of lower limbs1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM174916873609390
HP:0001265HP:0012392Jaw hyporeflexia1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM174916873609390
HP:0001265HP:0012391Hyporeflexia of upper limbs1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM174916873609390
HP:0001265HP:0002600Hyporeflexia of lower limbs1FKRP CL E G H79147899ORPHA178717997606596
HP:0001265HP:0012392Jaw hyporeflexia1FKRP CL E G H79147899ORPHA178717997606596
HP:0001265HP:0012391Hyporeflexia of upper limbs1FKRP CL E G H79147899ORPHA178717997606596
HP:0001265HP:0002600Hyporeflexia of lower limbs1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM178717997606596
HP:0001265HP:0012392Jaw hyporeflexia1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM178717997606596
HP:0001265HP:0012391Hyporeflexia of upper limbs1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM178717997606596
HP:0001265HP:0002600Hyporeflexia of lower limbs1FKTN CL E G H2218899ORPHA17833622607440
HP:0001265HP:0012391Hyporeflexia of upper limbs1FKTN CL E G H2218899ORPHA17833622607440
HP:0001265HP:0012392Jaw hyporeflexia1FKTN CL E G H2218899ORPHA17833622607440
HP:0001265HP:0012392Jaw hyporeflexia1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0001265HP:0012391Hyporeflexia of upper limbs1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0001265HP:0002600Hyporeflexia of lower limbs1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM17833622607440
HP:0001265HP:0002600Hyporeflexia of lower limbs1FLII CL E G H2314819ORPHA11543750600362
HP:0001265HP:0012392Jaw hyporeflexia1FLII CL E G H2314819ORPHA11543750600362
HP:0001265HP:0012391Hyporeflexia of upper limbs1FLII CL E G H2314819ORPHA11543750600362
HP:0001265HP:0012392Jaw hyporeflexia1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM134553756102565
HP:0001265HP:0012391Hyporeflexia of upper limbs1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM134553756102565
HP:0001265HP:0002600Hyporeflexia of lower limbs1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM134553756102565
HP:0001265HP:0012391Hyporeflexia of upper limbs1FMR1 CL E G H233293256ORPHA13383775309550
HP:0001265HP:0012392Jaw hyporeflexia1FMR1 CL E G H233293256ORPHA13383775309550
HP:0001265HP:0002600Hyporeflexia of lower limbs1FMR1 CL E G H233293256ORPHA13383775309550
HP:0001265HP:0002600Hyporeflexia of lower limbs1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13383775309550
HP:0001265HP:0012392Jaw hyporeflexia1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13383775309550
HP:0001265HP:0012391Hyporeflexia of upper limbs1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13383775309550
HP:0001265HP:0002600Hyporeflexia of lower limbs1FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM14094010137070
HP:0001265HP:0012392Jaw hyporeflexia1FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM14094010137070
HP:0001265HP:0012391Hyporeflexia of upper limbs1FUS CL E G H2521608030Amyotrophic lateral sclerosis type 6608030C1842675OMIM14094010137070
HP:0001265HP:0002600Hyporeflexia of lower limbs1GABRA3 CL E G H255679102ORPHA12124077305660
HP:0001265HP:0012392Jaw hyporeflexia1GABRA3 CL E G H255679102ORPHA12124077305660
HP:0001265HP:0012391Hyporeflexia of upper limbs1GABRA3 CL E G H255679102ORPHA12124077305660
HP:0001265HP:0002600Hyporeflexia of lower limbs1GABRB2 CL E G H2561442835ORPHA14214082600232
HP:0001265HP:0012392Jaw hyporeflexia1GABRB2 CL E G H2561442835ORPHA14214082600232
HP:0001265HP:0012391Hyporeflexia of upper limbs1GABRB2 CL E G H2561442835ORPHA14214082600232
HP:0001265HP:0002600Hyporeflexia of lower limbs1GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0001265HP:0012392Jaw hyporeflexia1GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0001265HP:0012391Hyporeflexia of upper limbs1GARS CL E G H2617601472Charcot-Marie-Tooth disease type 2D601472C1832274OMIM14162600287
HP:0001265HP:0002600Hyporeflexia of lower limbs1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11624208238330
HP:0001265HP:0012392Jaw hyporeflexia1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11624208238330
HP:0001265HP:0012391Hyporeflexia of upper limbs1GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11624208238330
HP:0001265HP:0012392Jaw hyporeflexia1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0001265HP:0012391Hyporeflexia of upper limbs1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0001265HP:0002600Hyporeflexia of lower limbs1GDAP1 CL E G H54332608340Charcot-Marie-Tooth disease, recessive intermediate A608340C1842197OMIM147715968606598
HP:0001265HP:0002600Hyporeflexia of lower limbs1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0001265HP:0012392Jaw hyporeflexia1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0001265HP:0012391Hyporeflexia of upper limbs1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM147715968606598
HP:0001265HP:0012391Hyporeflexia of upper limbs1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0001265HP:0012392Jaw hyporeflexia1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0001265HP:0002600Hyporeflexia of lower limbs1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17974283304040
HP:0001265HP:0012392Jaw hyporeflexia1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM118164313238300
HP:0001265HP:0012391Hyporeflexia of upper limbs1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM118164313238300
HP:0001265HP:0002600Hyporeflexia of lower limbs1GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM118164313238300
HP:0001265HP:0002600Hyporeflexia of lower limbs1GNB4 CL E G H59345615185Charcot-Marie-Tooth disease, dominant intermediate F615185C3554654OMIM122120731610863
HP:0001265HP:0012392Jaw hyporeflexia1GNB4 CL E G H59345615185Charcot-Marie-Tooth disease, dominant intermediate F615185C3554654OMIM122120731610863
HP:0001265HP:0012391Hyporeflexia of upper limbs1GNB4 CL E G H59345615185Charcot-Marie-Tooth disease, dominant intermediate F615185C3554654OMIM122120731610863
HP:0001265HP:0012392Jaw hyporeflexia1GRIN2D CL E G H2906442835ORPHA15194588602717
HP:0001265HP:0012391Hyporeflexia of upper limbs1GRIN2D CL E G H2906442835ORPHA15194588602717
HP:0001265HP:0002600Hyporeflexia of lower limbs1GRIN2D CL E G H2906442835ORPHA15194588602717
HP:0001265HP:0002600Hyporeflexia of lower limbs1HCN1 CL E G H348980442835ORPHA16354845602780
HP:0001265HP:0012392Jaw hyporeflexia1HCN1 CL E G H348980442835ORPHA16354845602780
HP:0001265HP:0012391Hyporeflexia of upper limbs1HCN1 CL E G H348980442835ORPHA16354845602780
HP:0001265HP:0002600Hyporeflexia of lower limbs1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM13914922142600
HP:0001265HP:0012392Jaw hyporeflexia1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM13914922142600
HP:0001265HP:0012391Hyporeflexia of upper limbs1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM13914922142600
HP:0001265HP:0012392Jaw hyporeflexia1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12485037607137
HP:0001265HP:0012391Hyporeflexia of upper limbs1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12485037607137
HP:0001265HP:0002600Hyporeflexia of lower limbs1HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12485037607137
HP:0001265HP:0002600Hyporeflexia of lower limbs1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0001265HP:0012391Hyporeflexia of upper limbs1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0001265HP:0012392Jaw hyporeflexia1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13295246602195
HP:0001265HP:0002600Hyporeflexia of lower limbs1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0001265HP:0012392Jaw hyporeflexia1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0001265HP:0012391Hyporeflexia of upper limbs1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM119230171608014
HP:0001265HP:0012392Jaw hyporeflexia1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0001265HP:0012391Hyporeflexia of upper limbs1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0001265HP:0002600Hyporeflexia of lower limbs1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0001265HP:0002600Hyporeflexia of lower limbs1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0001265HP:0012392Jaw hyporeflexia1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0001265HP:0012391Hyporeflexia of upper limbs1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0001265HP:0002600Hyporeflexia of lower limbs1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM128929685612801
HP:0001265HP:0012392Jaw hyporeflexia1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM128929685612801
HP:0001265HP:0012391Hyporeflexia of upper limbs1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM128929685612801
HP:0001265HP:0002600Hyporeflexia of lower limbs1IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM19965542600502
HP:0001265HP:0012392Jaw hyporeflexia1IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM19965542600502
HP:0001265HP:0012391Hyporeflexia of upper limbs1IGHMBP2 CL E G H3508616155Charcot-Marie-Tooth disease, axonal, type 2S616155C4015349OMIM19965542600502
HP:0001265HP:0002600Hyporeflexia of lower limbs1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM19965542600502
HP:0001265HP:0012392Jaw hyporeflexia1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM19965542600502
HP:0001265HP:0012391Hyporeflexia of upper limbs1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM19965542600502
HP:0001265HP:0002600Hyporeflexia of lower limbs1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1115023791610982
HP:0001265HP:0012392Jaw hyporeflexia1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1115023791610982
HP:0001265HP:0012391Hyporeflexia of upper limbs1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1115023791610982
HP:0001265HP:0002600Hyporeflexia of lower limbs1IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0001265HP:0012391Hyporeflexia of upper limbs1IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0001265HP:0012392Jaw hyporeflexia1IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0001265HP:0012392Jaw hyporeflexia1ISPD CL E G H729920899ORPHA164737276614631
HP:0001265HP:0012391Hyporeflexia of upper limbs1ISPD CL E G H729920899ORPHA164737276614631
HP:0001265HP:0002600Hyporeflexia of lower limbs1ISPD CL E G H729920899ORPHA164737276614631
HP:0001265HP:0002600Hyporeflexia of lower limbs1KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM16215601421
HP:0001265HP:0012392Jaw hyporeflexia1KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM16215601421
HP:0001265HP:0012391Hyporeflexia of upper limbs1KARS CL E G H3735613641Charcot-Marie-Tooth disease, recessive intermediate B613641C3150897OMIM16215601421
HP:0001265HP:0002600Hyporeflexia of lower limbs1KBTBD13 CL E G H390594171439ORPHA143137227613727
HP:0001265HP:0012392Jaw hyporeflexia1KBTBD13 CL E G H390594171439ORPHA143137227613727
HP:0001265HP:0012391Hyporeflexia of upper limbs1KBTBD13 CL E G H390594171439ORPHA143137227613727
HP:0001265HP:0002600Hyporeflexia of lower limbs1KCNA2 CL E G H3737442835ORPHA13256220176262
HP:0001265HP:0012392Jaw hyporeflexia1KCNA2 CL E G H3737442835ORPHA13256220176262
HP:0001265HP:0012391Hyporeflexia of upper limbs1KCNA2 CL E G H3737442835ORPHA13256220176262
HP:0001265HP:0002600Hyporeflexia of lower limbs1KCNB1 CL E G H3745442835ORPHA15186231600397
HP:0001265HP:0012392Jaw hyporeflexia1KCNB1 CL E G H3745442835ORPHA15186231600397
HP:0001265HP:0012391Hyporeflexia of upper limbs1KCNB1 CL E G H3745442835ORPHA15186231600397
HP:0001265HP:0002600Hyporeflexia of lower limbs1KCND3 CL E G H375298772ORPHA13996239605411
HP:0001265HP:0012392Jaw hyporeflexia1KCND3 CL E G H375298772ORPHA13996239605411
HP:0001265HP:0012391Hyporeflexia of upper limbs1KCND3 CL E G H375298772ORPHA13996239605411
HP:0001265HP:0002600Hyporeflexia of lower limbs1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM13996239605411
HP:0001265HP:0012392Jaw hyporeflexia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM13996239605411
HP:0001265HP:0012391Hyporeflexia of upper limbs1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM13996239605411
HP:0001265HP:0012391Hyporeflexia of upper limbs1KCNJ18 CL E G H10013444479102ORPHA11139080613236
HP:0001265HP:0012392Jaw hyporeflexia1KCNJ18 CL E G H10013444479102ORPHA11139080613236
HP:0001265HP:0002600Hyporeflexia of lower limbs1KCNJ18 CL E G H10013444479102ORPHA11139080613236
HP:0001265HP:0002600Hyporeflexia of lower limbs1KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM182819960610178
HP:0001265HP:0012391Hyporeflexia of upper limbs1KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM182819960610178
HP:0001265HP:0012392Jaw hyporeflexia1KIAA0586 CL E G H9786616546Short-rib thoracic dysplasia 14 with polydactyly616546C4225286OMIM182819960610178
HP:0001265HP:0002600Hyporeflexia of lower limbs1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12132888601255
HP:0001265HP:0012392Jaw hyporeflexia1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12132888601255
HP:0001265HP:0012391Hyporeflexia of upper limbs1KIF1A CL E G H547201300Hereditary sensory and autonomic neuropathy type IIA201300C2752089OMIM12132888601255
HP:0001265HP:0002600Hyporeflexia of lower limbs1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12132888601255
HP:0001265HP:0012392Jaw hyporeflexia1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12132888601255
HP:0001265HP:0012391Hyporeflexia of upper limbs1KIF1A CL E G H547614213Hereditary sensory and autonomic neuropathy type IIC614213C3280168OMIM12132888601255
HP:0001265HP:0002600Hyporeflexia of lower limbs1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0001265HP:0012391Hyporeflexia of upper limbs1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0001265HP:0012392Jaw hyporeflexia1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1204116636605995
HP:0001265HP:0002600Hyporeflexia of lower limbs1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0001265HP:0012392Jaw hyporeflexia1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0001265HP:0012391Hyporeflexia of upper limbs1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM16120716611729
HP:0001265HP:0012391Hyporeflexia of upper limbs1KLHL41 CL E G H10324171433ORPHA122016905607701
HP:0001265HP:0002600Hyporeflexia of lower limbs1KLHL41 CL E G H10324171439ORPHA122016905607701
HP:0001265HP:0012392Jaw hyporeflexia1KLHL41 CL E G H10324171433ORPHA122016905607701
HP:0001265HP:0012392Jaw hyporeflexia1KLHL41 CL E G