Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Functional motor deficit (HP:0004302)help
Parent Node:
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Gait disturbance (HP:0001288)help
..Starting node
..expand
Difficulty walking (HP:0002355)help
Term ID: 2355
Name: Difficulty walking
Synonym: Difficulty in walking; Difficulty walking; Walking disability
Definition: Reduced ability to walk (ambulate).
Comments:
Reference: HP:0002355
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBroad-based gait (HP:0002136) help
..expandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
..expandCock-walk gait (HP:0031848) help
..expandDifficulty walking backward (HP:0031847) help
..expandFalls (HP:0002527) help
..expandFreezing of gait (HP:0031825) help
..expandGait apraxia (HP:0010521) help
..expandGait ataxia (HP:0002066) help
..expandGait imbalance (HP:0002141) help
..expandHobby horse gait (HP:0031856) help
..expandImpaired tandem gait (HP:0031629) help
..expandInability to walk (HP:0002540) help
..expandScissor gait (HP:0012407) help
..expandShuffling gait (HP:0002362) help
..expandSteppage gait (HP:0003376) help
..expandTip-toe gait (HP:0030051) help
..expandToe walking (HP:0040083) help
..expandUnsteady gait (HP:0002317) help
..expandWaddling gait (HP:0002515) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002355HP:0002355Difficulty walking0ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0002355HP:0002355Difficulty walking0ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0002355HP:0002355Difficulty walking0ACTA1 CL E G H58171439ORPHA1362129102610
HP:0002355HP:0002355Difficulty walking0ACTA1 CL E G H58171433ORPHA1362129102610
HP:0002355HP:0002355Difficulty walking0ACTA1 CL E G H58171439ORPHA1325129102610
HP:0002355HP:0002355Difficulty walking0ACTA1 CL E G H58171433ORPHA1325129102610
HP:0002355HP:0002355Difficulty walking0ADAR CL E G H10351ORPHA1654225146920
HP:0002355HP:0002355Difficulty walking0ADAR CL E G H10351ORPHA1471225146920
HP:0002355HP:0002355Difficulty walking0ADCY5 CL E G H111324588ORPHA1365236600293
HP:0002355HP:0002355Difficulty walking0ADCY5 CL E G H111324588ORPHA1293236600293
HP:0002355HP:0002355Difficulty walking0AGRN CL E G H37579098914ORPHA11309329103320
HP:0002355HP:0002355Difficulty walking0AGRN CL E G H37579098914ORPHA11579329103320
HP:0002355HP:0002355Difficulty walking0ALG14 CL E G H199857616227Myasthenic syndrome, congenital, 15616227C4015596OMIM17628287612866
HP:0002355HP:0002355Difficulty walking0ALG14 CL E G H199857616227Myasthenic syndrome, congenital, 15616227C4015596OMIM19728287612866
HP:0002355HP:0002355Difficulty walking0ANO5 CL E G H203859399096ORPHA178627337608662
HP:0002355HP:0002355Difficulty walking0ANO5 CL E G H203859399096ORPHA190027337608662
HP:0002355HP:0002355Difficulty walking0AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0002355HP:0002355Difficulty walking0AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0002355HP:0002355Difficulty walking0AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0002355HP:0002355Difficulty walking0AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0002355HP:0002355Difficulty walking0AP4M1 CL E G H9179280763ORPHA1264574602296
HP:0002355HP:0002355Difficulty walking0AP4M1 CL E G H9179280763ORPHA1199574602296
HP:0002355HP:0002355Difficulty walking0AP4S1 CL E G H11154280763ORPHA1110575607243
HP:0002355HP:0002355Difficulty walking0AP4S1 CL E G H11154280763ORPHA189575607243
HP:0002355HP:0002355Difficulty walking0ARL6IP1 CL E G H23204401780ORPHA158697607669
HP:0002355HP:0002355Difficulty walking0ARL6IP1 CL E G H23204401780ORPHA159697607669
HP:0002355HP:0002355Difficulty walking0ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM158697607669
HP:0002355HP:0002355Difficulty walking0ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM159697607669
HP:0002355HP:0002355Difficulty walking0ARSA CL E G H410309271ORPHA1841713607574
HP:0002355HP:0002355Difficulty walking0ARSA CL E G H410309271ORPHA1732713607574
HP:0002355HP:0002355Difficulty walking0ARSI CL E G H340075401815ORPHA19632521610009
HP:0002355HP:0002355Difficulty walking0ARSI CL E G H340075401815ORPHA18432521610009
HP:0002355HP:0002355Difficulty walking0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1593735613468
HP:0002355HP:0002355Difficulty walking0ASAH1 CL E G H427159950Jankovic Rivera syndrome159950C1834569OMIM1420735613468
HP:0002355HP:0002355Difficulty walking0ATP13A2 CL E G H23400306674ORPHA160930213610513
HP:0002355HP:0002355Difficulty walking0ATP13A2 CL E G H23400306674ORPHA148730213610513
HP:0002355HP:0002355Difficulty walking0ATP13A2 CL E G H23400513436ORPHA160930213610513
HP:0002355HP:0002355Difficulty walking0ATP13A2 CL E G H23400513436ORPHA148730213610513
HP:0002355HP:0002355Difficulty walking0ATP7B CL E G H540905ORPHA11579870606882
HP:0002355HP:0002355Difficulty walking0ATP7B CL E G H540905ORPHA11389870606882
HP:0002355HP:0002355Difficulty walking0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11694117601873
HP:0002355HP:0002355Difficulty walking0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11484117601873
HP:0002355HP:0002355Difficulty walking0BICD2 CL E G H23299363454ORPHA144517208609797
HP:0002355HP:0002355Difficulty walking0BICD2 CL E G H23299363454ORPHA150617208609797
HP:0002355HP:0002355Difficulty walking0BIN1 CL E G H274169189ORPHA14871052601248
HP:0002355HP:0002355Difficulty walking0BIN1 CL E G H274169189ORPHA14311052601248
HP:0002355HP:0002355Difficulty walking0C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM126784613541
HP:0002355HP:0002355Difficulty walking0C19orf12 CL E G H83636320370ORPHA124025443614297
HP:0002355HP:0002355Difficulty walking0C19orf12 CL E G H83636320370ORPHA124825443614297
HP:0002355HP:0002355Difficulty walking0CAPN3 CL E G H825267ORPHA111421480114240
HP:0002355HP:0002355Difficulty walking0CAPN3 CL E G H825267ORPHA110471480114240
HP:0002355HP:0002355Difficulty walking0CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0002355HP:0002355Difficulty walking0CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0002355HP:0002355Difficulty walking0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18712771603400
HP:0002355HP:0002355Difficulty walking0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18612771603400
HP:0002355HP:0002355Difficulty walking0CHAT CL E G H110398914ORPHA16521912118490
HP:0002355HP:0002355Difficulty walking0CHAT CL E G H110398914ORPHA15111912118490
HP:0002355HP:0002355Difficulty walking0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0002355HP:0002355Difficulty walking0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0002355HP:0002355Difficulty walking0CIZ1 CL E G H25792420492ORPHA118116744611420
HP:0002355HP:0002355Difficulty walking0CIZ1 CL E G H25792420492ORPHA121216744611420
HP:0002355HP:0002355Difficulty walking0COASY CL E G H80347397725ORPHA115029932609855
HP:0002355HP:0002355Difficulty walking0COASY CL E G H80347397725ORPHA110729932609855
HP:0002355HP:0002355Difficulty walking0COL13A1 CL E G H130598914ORPHA11792190120350
HP:0002355HP:0002355Difficulty walking0COL13A1 CL E G H130598914ORPHA12942190120350
HP:0002355HP:0002355Difficulty walking0CPT1C CL E G H126129444099ORPHA111618540608846
HP:0002355HP:0002355Difficulty walking0CPT1C CL E G H126129444099ORPHA19918540608846
HP:0002355HP:0002355Difficulty walking0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM111618540608846
HP:0002355HP:0002355Difficulty walking0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM19918540608846
HP:0002355HP:0002355Difficulty walking0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11362606609506
HP:0002355HP:0002355Difficulty walking0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM11182606609506
HP:0002355HP:0002355Difficulty walking0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM17420580608713
HP:0002355HP:0002355Difficulty walking0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM16320580608713
HP:0002355HP:0002355Difficulty walking0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14672666128239
HP:0002355HP:0002355Difficulty walking0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM13762666128239
HP:0002355HP:0002355Difficulty walking0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM128019714614603
HP:0002355HP:0002355Difficulty walking0DDHD1 CL E G H80821609340Spastic paraplegia 28, autosomal recessive609340C1836295OMIM122619714614603
HP:0002355HP:0002355Difficulty walking0DHTKD1 CL E G H55526615025Charcot-Marie-Tooth disease, axonal, type 2Q615025C3554366OMIM133723537614984
HP:0002355HP:0002355Difficulty walking0DHTKD1 CL E G H55526615025Charcot-Marie-Tooth disease, axonal, type 2Q615025C3554366OMIM121823537614984
HP:0002355HP:0002355Difficulty walking0DMD CL E G H175698895ORPHA156012928300377
HP:0002355HP:0002355Difficulty walking0DMD CL E G H175698895ORPHA163952928300377
HP:0002355HP:0002355Difficulty walking0DNA2 CL E G H1763352470ORPHA12902939601810
HP:0002355HP:0002355Difficulty walking0DNA2 CL E G H1763352470ORPHA12232939601810
HP:0002355HP:0002355Difficulty walking0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM14592972602377
HP:0002355HP:0002355Difficulty walking0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM15062972602377
HP:0002355HP:0002355Difficulty walking0DNM2 CL E G H1785169189ORPHA17662974602378
HP:0002355HP:0002355Difficulty walking0DNM2 CL E G H1785169189ORPHA16752974602378
HP:0002355HP:0002355Difficulty walking0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0002355HP:0002355Difficulty walking0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002355HP:0002355Difficulty walking0ELOVL5 CL E G H60481423296ORPHA15221308611805
HP:0002355HP:0002355Difficulty walking0ELOVL5 CL E G H60481423296ORPHA14921308611805
HP:0002355HP:0002355Difficulty walking0ERLIN1 CL E G H10613401785ORPHA18416947611604
HP:0002355HP:0002355Difficulty walking0ERLIN1 CL E G H10613401785ORPHA15916947611604
HP:0002355HP:0002355Difficulty walking0ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM18416947611604
HP:0002355HP:0002355Difficulty walking0ERLIN1 CL E G H10613615681Spastic paraplegia 62, autosomal recessive615681C4284588OMIM15916947611604
HP:0002355HP:0002355Difficulty walking0ERLIN2 CL E G H11160209951ORPHA11471356611605
HP:0002355HP:0002355Difficulty walking0ERLIN2 CL E G H11160209951ORPHA11381356611605
HP:0002355HP:0002355Difficulty walking0FA2H CL E G H79152171629ORPHA127521197611026
HP:0002355HP:0002355Difficulty walking0FA2H CL E G H79152171629ORPHA124121197611026
HP:0002355HP:0002355Difficulty walking0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM127521197611026
HP:0002355HP:0002355Difficulty walking0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM124121197611026
HP:0002355HP:0002355Difficulty walking0FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM137228844608533
HP:0002355HP:0002355Difficulty walking0FBXO38 CL E G H81545615575Distal hereditary motor neuronopathy 2D615575C3711384OMIM131928844608533
HP:0002355HP:0002355Difficulty walking0FGF14 CL E G H225998764ORPHA11873671601515
HP:0002355HP:0002355Difficulty walking0FGF14 CL E G H225998764ORPHA11903671601515
HP:0002355HP:0002355Difficulty walking0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM14863702300163
HP:0002355HP:0002355Difficulty walking0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM14373702300163
HP:0002355HP:0002355Difficulty walking0FKRP CL E G H79147370980ORPHA157217997606596
HP:0002355HP:0002355Difficulty walking0FKRP CL E G H79147370980ORPHA167117997606596
HP:0002355HP:0002355Difficulty walking0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0002355HP:0002355Difficulty walking0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0002355HP:0002355Difficulty walking0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0002355HP:0002355Difficulty walking0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0002355HP:0002355Difficulty walking0FKTN CL E G H2218370980ORPHA16793622607440
HP:0002355HP:0002355Difficulty walking0FKTN CL E G H2218370980ORPHA15993622607440
HP:0002355HP:0002355Difficulty walking0FLRT1 CL E G H23769320406ORPHA11263760604806
HP:0002355HP:0002355Difficulty walking0FLRT1 CL E G H23769320406ORPHA11213760604806
HP:0002355HP:0002355Difficulty walking0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM13584082600232
HP:0002355HP:0002355Difficulty walking0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM13214082600232
HP:0002355HP:0002355Difficulty walking0GAN CL E G H8139643ORPHA15334137605379
HP:0002355HP:0002355Difficulty walking0GAN CL E G H8139643ORPHA15944137605379
HP:0002355HP:0002355Difficulty walking0GBA2 CL E G H57704320391ORPHA126218986609471
HP:0002355HP:0002355Difficulty walking0GBA2 CL E G H57704320391ORPHA124618986609471
HP:0002355HP:0002355Difficulty walking0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17714283304040
HP:0002355HP:0002355Difficulty walking0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM17324283304040
HP:0002355HP:0002355Difficulty walking0GJC2 CL E G H57165320401ORPHA117417494608803
HP:0002355HP:0002355Difficulty walking0GJC2 CL E G H57165320401ORPHA122117494608803
HP:0002355HP:0002355Difficulty walking0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12524431604027
HP:0002355HP:0002355Difficulty walking0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12174431604027
HP:0002355HP:0002355Difficulty walking0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17418062138210
HP:0002355HP:0002355Difficulty walking0GPT2 CL E G H84706477673ANO5-Related DisordersCN239193ORPHA17618062138210
HP:0002355HP:0002355Difficulty walking0GRID2 CL E G H2895363432ORPHA11514576602368
HP:0002355HP:0002355Difficulty walking0GRID2 CL E G H2895363432ORPHA11444576602368
HP:0002355HP:0002355Difficulty walking0GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM11684699603942
HP:0002355HP:0002355Difficulty walking0GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM11134699603942
HP:0002355HP:0002355Difficulty walking0HACE1 CL E G H57531464282ORPHA17621033610876
HP:0002355HP:0002355Difficulty walking0HACE1 CL E G H57531464282ORPHA19121033610876
HP:0002355HP:0002355Difficulty walking0HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM13104922142600
HP:0002355HP:0002355Difficulty walking0HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM12344922142600
HP:0002355HP:0002355Difficulty walking0HPCA CL E G H320899657ORPHA1275144142622
HP:0002355HP:0002355Difficulty walking0HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM12995246602195
HP:0002355HP:0002355Difficulty walking0HSPB1 CL E G H3315608634Distal hereditary motor neuronopathy type 2B608634C2608087OMIM12725246602195
HP:0002355HP:0002355Difficulty walking0HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1655248604624
HP:0002355HP:0002355Difficulty walking0HSPB3 CL E G H8988613376Distal hereditary motor neuronopathy type 2C613376C3150619OMIM1625248604624
HP:0002355HP:0002355Difficulty walking0IBA57 CL E G H200205468661ORPHA116127302615316
HP:0002355HP:0002355Difficulty walking0IBA57 CL E G H200205468661ORPHA114027302615316
HP:0002355HP:0002355Difficulty walking0IFIH1 CL E G H6413551ORPHA147618873606951
HP:0002355HP:0002355Difficulty walking0IFIH1 CL E G H6413551ORPHA171818873606951
HP:0002355HP:0002355Difficulty walking0ISPD CL E G H729920370980ORPHA154937276614631
HP:0002355HP:0002355Difficulty walking0ISPD CL E G H729920370980ORPHA154537276614631
HP:0002355HP:0002355Difficulty walking0KBTBD13 CL E G H390594171439ORPHA138837227613727
HP:0002355HP:0002355Difficulty walking0KBTBD13 CL E G H390594171439ORPHA131637227613727
HP:0002355HP:0002355Difficulty walking0KCNC3 CL E G H374898768ORPHA11266235176264
HP:0002355HP:0002355Difficulty walking0KCNC3 CL E G H374898768ORPHA11666235176264
HP:0002355HP:0002355Difficulty walking0KCND3 CL E G H375298772ORPHA12666239605411
HP:0002355HP:0002355Difficulty walking0KCND3 CL E G H375298772ORPHA12336239605411
HP:0002355HP:0002355Difficulty walking0KLC2 CL E G H64837320406ORPHA13120716611729
HP:0002355HP:0002355Difficulty walking0KLC2 CL E G H64837320406ORPHA14520716611729
HP:0002355HP:0002355Difficulty walking0KLHL41 CL E G H10324171439ORPHA119916905607701
HP:0002355HP:0002355Difficulty walking0KLHL41 CL E G H10324171439ORPHA115716905607701
HP:0002355HP:0002355Difficulty walking0KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0002355HP:0002355Difficulty walking0KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0002355HP:0002355Difficulty walking0KLHL9 CL E G H55958399081ORPHA111018732611201
HP:0002355HP:0002355Difficulty walking0KLHL9 CL E G H55958399081ORPHA18618732611201
HP:0002355HP:0002355Difficulty walking0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17826576605739
HP:0002355HP:0002355Difficulty walking0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17926576605739
HP:0002355HP:0002355Difficulty walking0LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM15346696604270
HP:0002355HP:0002355Difficulty walking0LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM16766696604270
HP:0002355HP:0002355Difficulty walking0MATR3 CL E G H9782600ORPHA12496912164015
HP:0002355HP:0002355Difficulty walking0MATR3 CL E G H9782600ORPHA12996912164015
HP:0002355HP:0002355Difficulty walking0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM194416877608507
HP:0002355HP:0002355Difficulty walking0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM182416877608507
HP:0002355HP:0002355Difficulty walking0MICU1 CL E G H10367401768ORPHA11351530605084
HP:0002355HP:0002355Difficulty walking0MICU1 CL E G H10367401768ORPHA11011530605084
HP:0002355HP:0002355Difficulty walking0MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM11011530605084
HP:0002355HP:0002355Difficulty walking0MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM11351530605084
HP:0002355HP:0002355Difficulty walking0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0002355HP:0002355Difficulty walking0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0002355HP:0002355Difficulty walking0MSTO1 CL E G H55154502423ORPHA16729678617619
HP:0002355HP:0002355Difficulty walking0MSTO1 CL E G H55154502423ORPHA15929678617619
HP:0002355HP:0002355Difficulty walking0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM15929678617619
HP:0002355HP:0002355Difficulty walking0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM16729678617619
HP:0002355HP:0002355Difficulty walking0MT-ATP6 CL E G H4508320360ORPHA17414516060
HP:0002355HP:0002355Difficulty walking0MTMR14 CL E G H64419169189ORPHA111426190611089
HP:0002355HP:0002355Difficulty walking0MTMR14 CL E G H64419169189ORPHA17526190611089
HP:0002355HP:0002355Difficulty walking0MYF6 CL E G H4618169189ORPHA1797566159991
HP:0002355HP:0002355Difficulty walking0MYF6 CL E G H4618169189ORPHA1747566159991
HP:0002355HP:0002355Difficulty walking0MYH7 CL E G H4625437572ORPHA132927577160760
HP:0002355HP:0002355Difficulty walking0MYH7 CL E G H4625437572ORPHA129607577160760
HP:0002355HP:0002355Difficulty walking0MYO9A CL E G H464998914ORPHA11687608604875
HP:0002355HP:0002355Difficulty walking0MYO9A CL E G H464998914ORPHA11647608604875
HP:0002355HP:0002355Difficulty walking0MYOT CL E G H949998911ORPHA126712399604103
HP:0002355HP:0002355Difficulty walking0MYOT CL E G H949998911ORPHA124612399604103
HP:0002355HP:0002355Difficulty walking0MYPN CL E G H84665171439ORPHA1103323246608517
HP:0002355HP:0002355Difficulty walking0MYPN CL E G H84665171439ORPHA188723246608517
HP:0002355HP:0002355Difficulty walking0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM16120967610672
HP:0002355HP:0002355Difficulty walking0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM112420967610672
HP:0002355HP:0002355Difficulty walking0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1827715602141
HP:0002355HP:0002355Difficulty walking0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1887715602141
HP:0002355HP:0002355Difficulty walking0NEB CL E G H4703171433ORPHA153137720161650
HP:0002355HP:0002355Difficulty walking0NEB CL E G H4703171439ORPHA153137720161650
HP:0002355HP:0002355Difficulty walking0NEB CL E G H4703171433ORPHA146747720161650
HP:0002355HP:0002355Difficulty walking0NEB CL E G H4703171439ORPHA146747720161650
HP:0002355HP:0002355Difficulty walking0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM119411825600635
HP:0002355HP:0002355Difficulty walking0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM117011825600635
HP:0002355HP:0002355Difficulty walking0NKX6-2 CL E G H84504527497ORPHA115119321605955
HP:0002355HP:0002355Difficulty walking0NKX6-2 CL E G H84504527497ORPHA111919321605955
HP:0002355HP:0002355Difficulty walking0NOP56 CL E G H10528276198ORPHA14415911614154
HP:0002355HP:0002355Difficulty walking0NOP56 CL E G H10528276198ORPHA14315911614154
HP:0002355HP:0002355Difficulty walking0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123120278613621
HP:0002355HP:0002355Difficulty walking0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM122220278613621
HP:0002355HP:0002355Difficulty walking0ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM122825896610277
HP:0002355HP:0002355Difficulty walking0ORAI1 CL E G H84876612782Immune dysfunction with T-cell inactivation due to calcium entry defect 1612782C2748568OMIM116225896610277
HP:0002355HP:0002355Difficulty walking0PEX6 CL E G H519095433ORPHA16458859601498
HP:0002355HP:0002355Difficulty walking0PEX6 CL E G H519095433ORPHA18558859601498
HP:0002355HP:0002355Difficulty walking0PGAP1 CL E G H80055401820ORPHA117425712611655
HP:0002355HP:0002355Difficulty walking0PGAP1 CL E G H80055401820ORPHA120925712611655
HP:0002355HP:0002355Difficulty walking0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM183229105611101
HP:0002355HP:0002355Difficulty walking0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM174129105611101
HP:0002355HP:0002355Difficulty walking0PMP2 CL E G H5375618279618279618279OMIM1489117170715
HP:0002355HP:0002355Difficulty walking0PMP2 CL E G H5375618279618279618279OMIM1689117170715
HP:0002355HP:0002355Difficulty walking0PNPLA2 CL E G H5710498908ORPHA133430802609059
HP:0002355HP:0002355Difficulty walking0PNPLA2 CL E G H5710498908ORPHA139130802609059
HP:0002355HP:0002355Difficulty walking0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0002355HP:0002355Difficulty walking0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0002355HP:0002355Difficulty walking0POMT1 CL E G H10585370980ORPHA16099202607423
HP:0002355HP:0002355Difficulty walking0POMT1 CL E G H1058586812ORPHA16869202607423
HP:0002355HP:0002355Difficulty walking0POMT1 CL E G H1058586812ORPHA16099202607423
HP:0002355HP:0002355Difficulty walking0POMT1 CL E G H10585370980ORPHA16869202607423
HP:0002355HP:0002355Difficulty walking0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16869202607423
HP:0002355HP:0002355Difficulty walking0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16099202607423
HP:0002355HP:0002355Difficulty walking0PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM197213797605725
HP:0002355HP:0002355Difficulty walking0PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM186113797605725
HP:0002355HP:0002355Difficulty walking0PSAP CL E G H5660309271ORPHA15029498176801
HP:0002355HP:0002355Difficulty walking0PSAP CL E G H5660309271ORPHA13909498176801
HP:0002355HP:0002355Difficulty walking0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1339761604198
HP:0002355HP:0002355Difficulty walking0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1569761604198
HP:0002355HP:0002355Difficulty walking0RARS CL E G H5917438114ORPHA19870107820
HP:0002355HP:0002355Difficulty walking0REEP1 CL E G H65055101011ORPHA134425786609139
HP:0002355HP:0002355Difficulty walking0REEP1 CL E G H65055101011ORPHA131525786609139
HP:0002355HP:0002355Difficulty walking0RNASEH2A CL E G H1053551ORPHA125918518606034
HP:0002355HP:0002355Difficulty walking0RNASEH2A CL E G H1053551ORPHA118618518606034
HP:0002355HP:0002355Difficulty walking0RNASEH2B CL E G H7962151ORPHA119725671610326
HP:0002355HP:0002355Difficulty walking0RNASEH2B CL E G H7962151ORPHA127225671610326
HP:0002355HP:0002355Difficulty walking0RNASEH2C CL E G H8415351ORPHA119124116610330
HP:0002355HP:0002355Difficulty walking0RNASEH2C CL E G H8415351ORPHA114724116610330
HP:0002355HP:0002355Difficulty walking0RNU12 CL E G H267010512260ORPHA112193800
HP:0002355HP:0002355Difficulty walking0RTN2 CL E G H6253100993ORPHA117210468603183
HP:0002355HP:0002355Difficulty walking0RTN2 CL E G H6253100993ORPHA115210468603183
HP:0002355HP:0002355Difficulty walking0RYR1 CL E G H6261169189ORPHA1460410483180901
HP:0002355HP:0002355Difficulty walking0RYR1 CL E G H6261169189ORPHA1410110483180901
HP:0002355HP:0002355Difficulty walking0SACS CL E G H2627898ORPHA1191410519604490
HP:0002355HP:0002355Difficulty walking0SACS CL E G H2627898ORPHA1208810519604490
HP:0002355HP:0002355Difficulty walking0SAMHD1 CL E G H2593951ORPHA132915925606754
HP:0002355HP:0002355Difficulty walking0SAMHD1 CL E G H2593951ORPHA145415925606754
HP:0002355HP:0002355Difficulty walking0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM110802135607697
HP:0002355HP:0002355Difficulty walking0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM19632135607697
HP:0002355HP:0002355Difficulty walking0SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11087445608465
HP:0002355HP:0002355Difficulty walking0SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM1941445608465
HP:0002355HP:0002355Difficulty walking0SGCB CL E G H6443119ORPHA137410806600900
HP:0002355HP:0002355Difficulty walking0SGCB CL E G H6443119ORPHA132710806600900
HP:0002355HP:0002355Difficulty walking0SGCD CL E G H6444601287Limb-girdle muscular dystrophy, type 2F601287C1832525OMIM154610807601411
HP:0002355HP:0002355Difficulty walking0SGCD CL E G H6444601287Limb-girdle muscular dystrophy, type 2F601287C1832525OMIM151010807601411
HP:0002355HP:0002355Difficulty walking0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1138429427608206
HP:0002355HP:0002355Difficulty walking0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1126129427608206
HP:0002355HP:0002355Difficulty walking0SLC18A3 CL E G H657298914ORPHA110210936600336
HP:0002355HP:0002355Difficulty walking0SLC18A3 CL E G H657298914ORPHA116510936600336
HP:0002355HP:0002355Difficulty walking0SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM116510936600336
HP:0002355HP:0002355Difficulty walking0SLC18A3 CL E G H6572617239Myasthenic syndrome, congenital, 21, presynaptic617239C4310654OMIM110210936600336
HP:0002355HP:0002355Difficulty walking0SLC25A1 CL E G H657698914ORPHA149810979190315
HP:0002355HP:0002355Difficulty walking0SLC25A1 CL E G H657698914ORPHA147010979190315
HP:0002355HP:0002355Difficulty walking0SLC25A19 CL E G H60386613710Striatal necrosis, bilateral, and progressive polyneuropathy613710C3150973OMIM112914409606521
HP:0002355HP:0002355Difficulty walking0SLC25A19 CL E G H60386613710Striatal necrosis, bilateral, and progressive polyneuropathy613710C3150973OMIM112014409606521
HP:0002355HP:0002355Difficulty walking0SLC30A10 CL E G H55532309854ORPHA116725355611146
HP:0002355HP:0002355Difficulty walking0SLC30A10 CL E G H55532309854ORPHA113925355611146
HP:0002355HP:0002355Difficulty walking0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1281329604604
HP:0002355HP:0002355Difficulty walking0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1221329604604
HP:0002355HP:0002355Difficulty walking0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM133820305609826
HP:0002355HP:0002355Difficulty walking0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM128820305609826
HP:0002355HP:0002355Difficulty walking0SLC52A2 CL E G H7958195433ORPHA139130224607882
HP:0002355HP:0002355Difficulty walking0SLC52A2 CL E G H7958195433ORPHA132830224607882
HP:0002355HP:0002355Difficulty walking0SLC5A7 CL E G H6048298914ORPHA125914025608761
HP:0002355HP:0002355Difficulty walking0SLC5A7 CL E G H6048298914ORPHA131514025608761
HP:0002355HP:0002355Difficulty walking0SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM131514025608761
HP:0002355HP:0002355Difficulty walking0SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM125914025608761
HP:0002355HP:0002355Difficulty walking0SNAP25 CL E G H661698914ORPHA114811132600322
HP:0002355HP:0002355Difficulty walking0SNAP25 CL E G H661698914ORPHA112711132600322
HP:0002355HP:0002355Difficulty walking0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM114811132600322
HP:0002355HP:0002355Difficulty walking0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM112711132600322
HP:0002355HP:0002355Difficulty walking0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM124618514607111
HP:0002355HP:0002355Difficulty walking0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM121518514607111
HP:0002355HP:0002355Difficulty walking0SPG21 CL E G H51324101001ORPHA114020373608181
HP:0002355HP:0002355Difficulty walking0SPG21 CL E G H51324101001ORPHA112220373608181
HP:0002355HP:0002355Difficulty walking0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM123530172608626
HP:0002355HP:0002355Difficulty walking0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM119030172608626
HP:0002355HP:0002355Difficulty walking0STUB1 CL E G H10273412057ORPHA114411427607207
HP:0002355HP:0002355Difficulty walking0STUB1 CL E G H10273412057ORPHA113811427607207
HP:0002355HP:0002355Difficulty walking0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM131311474185620
HP:0002355HP:0002355Difficulty walking0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM124911474185620
HP:0002355HP:0002355Difficulty walking0SYT2 CL E G H12783398914ORPHA17911510600104
HP:0002355HP:0002355Difficulty walking0SYT2 CL E G H12783398914ORPHA112311510600104
HP:0002355HP:0002355Difficulty walking0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14925622617687
HP:0002355HP:0002355Difficulty walking0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14625622617687
HP:0002355HP:0002355Difficulty walking0TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM122611610604488
HP:0002355HP:0002355Difficulty walking0TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM120011610604488
HP:0002355HP:0002355Difficulty walking0TGM6 CL E G H343641276193ORPHA127516255613900
HP:0002355HP:0002355Difficulty walking0TGM6 CL E G H343641276193ORPHA127016255613900
HP:0002355HP:0002355Difficulty walking0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM127516255613900
HP:0002355HP:0002355Difficulty walking0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM127016255613900
HP:0002355HP:0002355Difficulty walking0TK2 CL E G H7084254875ORPHA129911831188250
HP:0002355HP:0002355Difficulty walking0TK2 CL E G H7084254875ORPHA123011831188250
HP:0002355HP:0002355Difficulty walking0TPM2 CL E G H7169171439ORPHA124212011190990
HP:0002355HP:0002355Difficulty walking0TPM2 CL E G H7169171439ORPHA123412011190990
HP:0002355HP:0002355Difficulty walking0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM124212011190990
HP:0002355HP:0002355Difficulty walking0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM123412011190990
HP:0002355HP:0002355Difficulty walking0TPM3 CL E G H7170171439ORPHA128312012191030
HP:0002355HP:0002355Difficulty walking0TPM3 CL E G H7170171439ORPHA126112012191030
HP:0002355HP:0002355Difficulty walking0TPM3 CL E G H7170171433ORPHA128312012191030
HP:0002355HP:0002355Difficulty walking0TPM3 CL E G H7170171433ORPHA126112012191030
HP:0002355HP:0002355Difficulty walking0TPP1 CL E G H1200284324ORPHA17452073607998
HP:0002355HP:0002355Difficulty walking0TPP1 CL E G H1200284324ORPHA16452073607998
HP:0002355HP:0002355Difficulty walking0TRAPPC11 CL E G H60684369847ORPHA157325751614138
HP:0002355HP:0002355Difficulty walking0TRAPPC11 CL E G H60684369840ORPHA167325751614138
HP:0002355HP:0002355Difficulty walking0TRAPPC11 CL E G H60684369840ORPHA157325751614138
HP:0002355HP:0002355Difficulty walking0TRAPPC11 CL E G H60684369847ORPHA167325751614138
HP:0002355HP:0002355Difficulty walking0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0002355HP:0002355Difficulty walking0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0002355HP:0002355Difficulty walking0TREX1 CL E G H1127751ORPHA128912269606609
HP:0002355HP:0002355Difficulty walking0TREX1 CL E G H1127751ORPHA119812269606609
HP:0002355HP:0002355Difficulty walking0TTBK2 CL E G H14605798767ORPHA121019141611695
HP:0002355HP:0002355Difficulty walking0TTBK2 CL E G H14605798767ORPHA120719141611695
HP:0002355HP:0002355Difficulty walking0TTN CL E G H7273609Alopecia immunodeficiencyORPHA11902812403188840
HP:0002355HP:0002355Difficulty walking0TTN CL E G H7273609Alopecia immunodeficiencyORPHA11798412403188840
HP:0002355HP:0002355Difficulty walking0VAMP1 CL E G H684398914ORPHA19912642185880
HP:0002355HP:0002355Difficulty walking0VAMP1 CL E G H6843251282ORPHA19912642185880
HP:0002355HP:0002355Difficulty walking0VAMP1 CL E G H684398914ORPHA18312642185880
HP:0002355HP:0002355Difficulty walking0VAMP1 CL E G H6843251282ORPHA18312642185880
HP:0002355HP:0002355Difficulty walking0VCP CL E G H7415329478ORPHA135612666601023
HP:0002355HP:0002355Difficulty walking0VCP CL E G H7415329478ORPHA139512666601023
HP:0002355HP:0002355Difficulty walking0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM125612679601769
HP:0002355HP:0002355Difficulty walking0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM123912679601769
HP:0002355HP:0002355Difficulty walking0WASHC5 CL E G H9897100989ORPHA149328984610657
HP:0002355HP:0002355Difficulty walking0WASHC5 CL E G H9897100989ORPHA145728984610657
HP:0002355HP:0002355Difficulty walking0WDR48 CL E G H57599401800ORPHA11130914612167
HP:0002355HP:0002355Difficulty walking0WDR48 CL E G H57599401800ORPHA11230914612167
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002355HP:0002355Difficulty walking0AARS CL E G H16442835ORPHA020601065
HP:0002355HP:0002355Difficulty walking0ALG14 CL E G H199857353327ORPHA07628287612866
HP:0002355HP:0002355Difficulty walking0ALG14 CL E G H199857353327ORPHA09728287612866
HP:0002355HP:0002355Difficulty walking0ALG2 CL E G H85365353327ORPHA024123159607905
HP:0002355HP:0002355Difficulty walking0ALG2 CL E G H85365353327ORPHA019323159607905
HP:0002355HP:0002355Difficulty walking0AP3B2 CL E G H8120442835ORPHA0288567602166
HP:0002355HP:0002355Difficulty walking0AP3B2 CL E G H8120442835ORPHA0117567602166
HP:0002355HP:0002355Difficulty walking0ARV1 CL E G H64801442835ORPHA06229561611647
HP:0002355HP:0002355Difficulty walking0ARV1 CL E G H64801442835ORPHA06529561611647
HP:0002355HP:0002355Difficulty walking0ATP6V1A CL E G H523442835ORPHA093851607027
HP:0002355HP:0002355Difficulty walking0ATP6V1A CL E G H523442835ORPHA079851607027
HP:0002355HP:0002355Difficulty walking0CACNA1A CL E G H773442835ORPHA020471388601011
HP:0002355HP:0002355Difficulty walking0CACNA1A CL E G H773442835ORPHA023261388601011
HP:0002355HP:0002355Difficulty walking0CLTC CL E G H1213442835ORPHA02022092118955
HP:0002355HP:0002355Difficulty walking0CLTC CL E G H1213442835ORPHA01022092118955
HP:0002355HP:0002355Difficulty walking0CNKSR2 CL E G H22866442835ORPHA024919701300724
HP:0002355HP:0002355Difficulty walking0CNKSR2 CL E G H22866442835ORPHA025619701300724
HP:0002355HP:0002355Difficulty walking0CRYAB CL E G H1410399058ORPHA01752389123590
HP:0002355HP:0002355Difficulty walking0CRYAB CL E G H1410399058ORPHA02022389123590
HP:0002355HP:0002355Difficulty walking0CYFIP2 CL E G H26999442835ORPHA017513760606323
HP:0002355HP:0002355Difficulty walking0CYFIP2 CL E G H26999442835ORPHA08413760606323
HP:0002355HP:0002355Difficulty walking0DHDDS CL E G H79947442835ORPHA019920603608172
HP:0002355HP:0002355Difficulty walking0DHDDS CL E G H79947442835ORPHA025620603608172
HP:0002355HP:0002355Difficulty walking0DNM1 CL E G H1759442835ORPHA05062972602377
HP:0002355HP:0002355Difficulty walking0DNM1 CL E G H1759442835ORPHA04592972602377
HP:0002355HP:0002355Difficulty walking0DPAGT1 CL E G H1798353327ORPHA01992995191350
HP:0002355HP:0002355Difficulty walking0DPAGT1 CL E G H1798353327ORPHA02332995191350
HP:0002355HP:0002355Difficulty walking0EEF1A2 CL E G H1917442835ORPHA03823192602959
HP:0002355HP:0002355Difficulty walking0EEF1A2 CL E G H1917442835ORPHA04173192602959
HP:0002355HP:0002355Difficulty walking0FGF12 CL E G H2257442835ORPHA01633668601513
HP:0002355HP:0002355Difficulty walking0FGF12 CL E G H2257442835ORPHA01273668601513
HP:0002355HP:0002355Difficulty walking0GABRB2 CL E G H2561442835ORPHA03214082600232
HP:0002355HP:0002355Difficulty walking0GABRB2 CL E G H2561442835ORPHA03584082600232
HP:0002355HP:0002355Difficulty walking0GFPT1 CL E G H2673353327ORPHA04064241138292
HP:0002355HP:0002355Difficulty walking0GFPT1 CL E G H2673353327ORPHA03744241138292
HP:0002355HP:0002355Difficulty walking0GMPPB CL E G H29925353327ORPHA020322932615320
HP:0002355HP:0002355Difficulty walking0GMPPB CL E G H29925353327ORPHA023422932615320
HP:0002355HP:0002355Difficulty walking0GRIN2D CL E G H2906442835ORPHA03164588602717
HP:0002355HP:0002355Difficulty walking0GRIN2D CL E G H2906442835ORPHA01284588602717
HP:0002355HP:0002355Difficulty walking0HCN1 CL E G H348980442835ORPHA04454845602780
HP:0002355HP:0002355Difficulty walking0HCN1 CL E G H348980442835ORPHA05204845602780
HP:0002355HP:0002355Difficulty walking0KCNA2 CL E G H3737442835ORPHA02796220176262
HP:0002355HP:0002355Difficulty walking0KCNA2 CL E G H3737442835ORPHA02486220176262
HP:0002355HP:0002355Difficulty walking0KCNB1 CL E G H3745442835ORPHA04016231600397
HP:0002355HP:0002355Difficulty walking0KCNB1 CL E G H3745442835ORPHA04526231600397
HP:0002355HP:0002355Difficulty walking0LMNA CL E G H4000264ORPHA013476636150330
HP:0002355HP:0002355Difficulty walking0LMNA CL E G H4000264ORPHA014866636150330
HP:0002355HP:0002355Difficulty walking0NECAP1 CL E G H25977442835ORPHA014424539611623
HP:0002355HP:0002355Difficulty walking0NECAP1 CL E G H25977442835ORPHA010224539611623
HP:0002355HP:0002355Difficulty walking0NTRK2 CL E G H4915442835ORPHA01168032600456
HP:0002355HP:0002355Difficulty walking0NTRK2 CL E G H4915442835ORPHA02028032600456
HP:0002355HP:0002355Difficulty walking0NUS1 CL E G H116150442835ORPHA014321042610463
HP:0002355HP:0002355Difficulty walking0NUS1 CL E G H116150442835ORPHA08621042610463
HP:0002355HP:0002355Difficulty walking0PPP3CA CL E G H5530442835ORPHA0679314114105
HP:0002355HP:0002355Difficulty walking0PPP3CA CL E G H5530442835ORPHA01359314114105
HP:0002355HP:0002355Difficulty walking0SCN3A CL E G H6328442835ORPHA089710590182391
HP:0002355HP:0002355Difficulty walking0SCN3A CL E G H6328442835ORPHA074210590182391
HP:0002355HP:0002355Difficulty walking0SCN8A CL E G H6334442835ORPHA0111910596600702
HP:0002355HP:0002355Difficulty walking0SCN8A CL E G H6334442835ORPHA0128510596600702
HP:0002355HP:0002355Difficulty walking0SLC13A5 CL E G H284111442835ORPHA049123089608305
HP:0002355HP:0002355Difficulty walking0SLC13A5 CL E G H284111442835ORPHA043523089608305
HP:0002355HP:0002355Difficulty walking0SLC1A2 CL E G H6506442835ORPHA07210940600300
HP:0002355HP:0002355Difficulty walking0SLC1A2 CL E G H6506442835ORPHA013310940600300
HP:0002355HP:0002355Difficulty walking0STXBP1 CL E G H6812442835ORPHA077911444602926
HP:0002355HP:0002355Difficulty walking0STXBP1 CL E G H6812442835ORPHA071411444602926
HP:0002355HP:0002355Difficulty walking0SYNGAP1 CL E G H8831442835ORPHA082811497603384
HP:0002355HP:0002355Difficulty walking0SYNGAP1 CL E G H8831442835ORPHA092811497603384
HP:0002355HP:0002355Difficulty walking0SYNJ1 CL E G H8867442835ORPHA090911503604297
HP:0002355HP:0002355Difficulty walking0SYNJ1 CL E G H8867442835ORPHA073011503604297
HP:0002355HP:0002355Difficulty walking0SZT2 CL E G H23334442835ORPHA0165229040615463
HP:0002355HP:0002355Difficulty walking0SZT2 CL E G H23334442835ORPHA0196729040615463
HP:0002355HP:0002355Difficulty walking0TAF1 CL E G H687253351ORPHA030211535313650
HP:0002355HP:0002355Difficulty walking0TAF1 CL E G H687253351ORPHA032111535313650
HP:0002355HP:0002355Difficulty walking0TRAK1 CL E G H22906442835ORPHA07129947608112
HP:0002355HP:0002355Difficulty walking0TRAK1 CL E G H22906442835ORPHA04029947608112
HP:0002355HP:0002355Difficulty walking0UBA5 CL E G H79876442835ORPHA05823230610552
HP:0002355HP:0002355Difficulty walking0UBA5 CL E G H79876442835ORPHA010923230610552
HP:0002355HP:0002355Difficulty walking0VCP CL E G H7415435387ORPHA035612666601023
HP:0002355HP:0002355Difficulty walking0VCP CL E G H7415435387ORPHA039512666601023
HP:0002355HP:0002355Difficulty walking0WWOX CL E G H51741442835ORPHA087912799605131
HP:0002355HP:0002355Difficulty walking0WWOX CL E G H51741442835ORPHA076712799605131
HP:0002355HP:0002355Difficulty walking0YWHAG CL E G H7532442835ORPHA05912852605356
HP:0002355HP:0002355Difficulty walking0YWHAG CL E G H7532442835ORPHA07812852605356


Genes (192) :AARS ABHD5 ACTA1 ADAR ADCY5 AGRN ALG14 ALG2 ANO5 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 ARL6IP1 ARSA ARSI ARV1 ASAH1 ATP13A2 ATP6 ATP6V1A ATP7B B4GALNT1 BICD2 BIN1 C12ORF65 C12orf65 C19ORF12 C19orf12 CACNA1A CAPN3 CCN6 CHAT CHCHD10 CIZ1 CLTC CNKSR2 COASY COL13A1 CPT1C CRPPA CRYAB CYFIP2 CYP27B1 CYP2R1 DAG1 DDHD1 DHDDS DHTKD1 DMD DNA2 DNM1 DNM2 DPAGT1 EEF1A2 EIF2S3 ELOVL5 ERLIN1 ERLIN2 FA2H FBXO38 FGF12 FGF14 FHL1 FKRP FKTN FLRT1 GABRB2 GAN GBA2 GFPT1 GJB1 GJC2 GMPPB GOSR2 GPT2 GRID2 GRIN2D GYG1 HACE1 HCN1 HK1 HPCA HSPB1 HSPB3 IBA57 IFIH1 ISPD KBTBD13 KCNA2 KCNB1 KCNC3 KCND3 KLC2 KLHL41 KLHL9 KY LMNA LRP4 MATR3 MFN2 MICU1 MORC2 MSTO1 MT-ATP6 MTMR14 MYF6 MYH7 MYO9A MYOT MYPN NACC1 NDUFS8 NEB NECAP1 NKX2-1 NKX6-2 NOP56 NTRK2 NUBPL NUS1 ORAI1 PEX6 PGAP1 PLEKHG5 PMP2 PNPLA2 POMT1 PPP3CA PRX PSAP RAB11B RARS REEP1 RNASEH2A RNASEH2B RNASEH2C RNU12 RTN2 RYR1 SACS SAMHD1 SBF2 SCN3A SCN8A SETX SGCB SGCD SH3TC2 SLC13A5 SLC18A3 SLC1A2 SLC25A1 SLC25A19 SLC30A10 SLC30A9 SLC34A3 SLC52A2 SLC5A7 SNAP25 SPART SPG21 STRADA STUB1 STXBP1 SURF1 SYNGAP1 SYNJ1 SYT2 SZT2 TAF1 TBC1D23 TCAP TGM6 TK2 TPM2 TPM3 TPP1 TRAK1 TRAPPC11 TREX1 TTBK2 TTN UBA5 VAMP1 VCP VDR WASHC5 WDR48 WWOX YWHAG

Diseases (144) :442835 98907 171439 171433 51 324588 98914 353327 616227 399096 280763 401780 615685 309271 401815 159950 513436 306674 320360 905 609195 363454 169189 615035 320370 267 253600 208230 615048 420492 397725 444099 616282 370980 399058 264700 600081 613818 609340 615025 98895 352470 616346 300148 423296 401785 615681 209951 171629 612319 615575 98764 300280 606612 607155 320406 617829 643 320391 302800 320401 614018 477673 363432 616199 464282 605285 99657 608634 613376 468661 98768 98772 399081 617114 264 616304 600 617087 401768 615673 616688 502423 617675 437572 98911 617393 618222 610978 527497 276198 618242 612782 95433 401820 611067 618279 98908 610717 86812 609308 614895 617807 438114 101011 512260 100993 98 604563 602433 119 601287 601596 617239 613710 309854 617595 241530 158580 616330 275900 101001 611087 412057 616684 53351 617695 601954 276193 613908 254875 609285 284324 369840 369847 615356 98767 609 251282 435387 329478 277440 100989 401800
 

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