Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of coordination (HP:0011443)help
Parent Node:
expand
Functional motor deficit (HP:0004302)help
Parent Node:
expand
Incoordination (HP:0002311)help
..Starting node
..expand
Frequent falls (HP:0002359)help
Term ID: 2359
Name: Frequent falls
Synonym: Frequent falls
Definition:
Comments:
Reference: HP:0002359
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandClumsiness (HP:0002312) help
..expandPoor coordination (HP:0002370) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002359HP:0002359Frequent falls0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0002359HP:0002359Frequent falls0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0002359HP:0002359Frequent falls0ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0002359HP:0002359Frequent falls0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040283 - Occasional
HP:0002359HP:0002359Frequent falls0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0002359HP:0002359Frequent falls0ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0002359HP:0002359Frequent falls0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0002359HP:0002359Frequent falls0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0002359HP:0002359Frequent falls0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0002359HP:0002359Frequent falls0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0002359HP:0002359Frequent falls0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0002359HP:0002359Frequent falls0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040282 - Frequent78
HP:0002359HP:0002359Frequent falls0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040284 - Very rare71
HP:0002359HP:0002359Frequent falls0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0002359HP:0002359Frequent falls0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0002359HP:0002359Frequent falls0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0002359HP:0002359Frequent falls0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0002359HP:0002359Frequent falls0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0002359HP:0002359Frequent falls0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0002359HP:0002359Frequent falls0CCDC78 CL E G H12409314153OMIM:614807Myopathy, centronuclear, 425
HP:0002359HP:0002359Frequent falls0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0002359HP:0002359Frequent falls0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0002359HP:0002359Frequent falls0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040283 - Occasional111
HP:0002359HP:0002359Frequent falls0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0002359HP:0002359Frequent falls0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0002359HP:0002359Frequent falls0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0002359HP:0002359Frequent falls0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0002359HP:0002359Frequent falls0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare90
HP:0002359HP:0002359Frequent falls0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0002359HP:0002359Frequent falls0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0002359HP:0002359Frequent falls0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0002359HP:0002359Frequent falls0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0002359HP:0002359Frequent falls0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0002359HP:0002359Frequent falls0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002359HP:0002359Frequent falls0DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 37.4
HP:0002359HP:0002359Frequent falls0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002359HP:0002359Frequent falls0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0002359HP:0002359Frequent falls0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0002359HP:0002359Frequent falls0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O.427
HP:0002359HP:0002359Frequent falls0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002359HP:0002359Frequent falls0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0002359HP:0002359Frequent falls0FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset.68
HP:0002359HP:0002359Frequent falls0FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J.111
HP:0002359HP:0002359Frequent falls0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0002359HP:0002359Frequent falls0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040283 - Occasional157
HP:0002359HP:0002359Frequent falls0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0002359HP:0002359Frequent falls0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0002359HP:0002359Frequent falls0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0002359HP:0002359Frequent falls0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0002359HP:0002359Frequent falls0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0002359HP:0002359Frequent falls0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0002359HP:0002359Frequent falls0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002359HP:0002359Frequent falls0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0002359HP:0002359Frequent falls0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0002359HP:0002359Frequent falls0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0002359HP:0002359Frequent falls0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0002359HP:0002359Frequent falls0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0002359HP:0002359Frequent falls0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0002359HP:0002359Frequent falls0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0002359HP:0002359Frequent falls0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0002359HP:0002359Frequent falls0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0002359HP:0002359Frequent falls0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0002359HP:0002359Frequent falls0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0002359HP:0002359Frequent falls0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0002359HP:0002359Frequent falls0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0002359HP:0002359Frequent falls0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0002359HP:0002359Frequent falls0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0002359HP:0002359Frequent falls0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0002359HP:0002359Frequent falls0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0002359HP:0002359Frequent falls0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare92
HP:0002359HP:0002359Frequent falls0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0002359HP:0002359Frequent falls0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0002359HP:0002359Frequent falls0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0002359HP:0002359Frequent falls0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002359HP:0002359Frequent falls0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional134
HP:0002359HP:0002359Frequent falls0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0002359HP:0002359Frequent falls0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0002359HP:0002359Frequent falls0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040282 - Frequent19
HP:0002359HP:0002359Frequent falls0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0002359HP:0002359Frequent falls0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0002359HP:0002359Frequent falls0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC.24
HP:0002359HP:0002359Frequent falls0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0002359HP:0002359Frequent falls0NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditary51
HP:0002359HP:0002359Frequent falls0NOL3 CL E G H89967869OMIM:614937Myoclonus, familial cortical.1
HP:0002359HP:0002359Frequent falls0NUDT2 CL E G H3188049OMIM:619844
HP:0002359HP:0002359Frequent falls0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional7
HP:0002359HP:0002359Frequent falls0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0002359HP:0002359Frequent falls0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040284 - Very rare55
HP:0002359HP:0002359Frequent falls0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0002359HP:0002359Frequent falls0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset.5
HP:0002359HP:0002359Frequent falls0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040282 - Frequent5
HP:0002359HP:0002359Frequent falls0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0002359HP:0002359Frequent falls0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0002359HP:0002359Frequent falls0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0002359HP:0002359Frequent falls0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 3.11
HP:0002359HP:0002359Frequent falls0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040282 - Frequent759
HP:0002359HP:0002359Frequent falls0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G.1
HP:0002359HP:0002359Frequent falls0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional79
HP:0002359HP:0002359Frequent falls0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002359HP:0002359Frequent falls0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0002359HP:0002359Frequent falls0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0002359HP:0002359Frequent falls0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0002359HP:0002359Frequent falls0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0002359HP:0002359Frequent falls0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0002359HP:0002359Frequent falls0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0002359HP:0002359Frequent falls0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0002359HP:0002359Frequent falls0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0002359HP:0002359Frequent falls0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0002359HP:0002359Frequent falls0REEP1 CL E G H6505525786OMIM:62001187
HP:0002359HP:0002359Frequent falls0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0002359HP:0002359Frequent falls0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002359HP:0002359Frequent falls0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0002359HP:0002359Frequent falls0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0002359HP:0002359Frequent falls0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0002359HP:0002359Frequent falls0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0002359HP:0002359Frequent falls0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0002359HP:0002359Frequent falls0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0002359HP:0002359Frequent falls0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0002359HP:0002359Frequent falls0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0002359HP:0002359Frequent falls0SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0002359HP:0002359Frequent falls0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0002359HP:0002359Frequent falls0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040282 - Frequent493
HP:0002359HP:0002359Frequent falls0SLC12A6 CL E G H999010914OMIM:620068163
HP:0002359HP:0002359Frequent falls0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002359HP:0002359Frequent falls0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic.28
HP:0002359HP:0002359Frequent falls0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0002359HP:0002359Frequent falls0SMG9 CL E G H5600625763OMIM:6199952
HP:0002359HP:0002359Frequent falls0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0002359HP:0002359Frequent falls0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0002359HP:0002359Frequent falls0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0002359HP:0002359Frequent falls0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040283 - Occasional21
HP:0002359HP:0002359Frequent falls0TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0002359HP:0002359Frequent falls0TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0002359HP:0002359Frequent falls0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0002359HP:0002359Frequent falls0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0002359HP:0002359Frequent falls0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0002359HP:0002359Frequent falls0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0002359HP:0002359Frequent falls0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0002359HP:0002359Frequent falls0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0002359HP:0002359Frequent falls0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0002359HP:0002359Frequent falls0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37
HP:0002359HP:0002359Frequent falls0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO


Genes (122) :ACTA1 ADAR ADCY5 ADSS1 ALG14 ALG2 ARG1 ARHGEF2 ARSA ASAH1 ATL1 ATP2B3 ATP6 ATP6AP2 B4GALNT1 BSCL2 C19ORF12 CCDC78 CFL2 CHP1 CLN8 COL12A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 COX20 CRPPA CWF19L1 DAB1 DNAJC13 DPAGT1 DYM DYNC1H1 EIF4G1 FA2H FHL1 FIG4 FKRP FKTN GALC GBA1 GDAP1 GDAP2 GFPT1 GIGYF2 GJB1 GLRA1 GMPPB GPHN GRIN2A GRM1 HADHA HADHB HINT1 ISCU KIF1C LAMB2 LRRK2 MAPT MFN2 MICU1 MPZ MRE11 MTPAP MYPN NEB NEFH NEFL NKX2-1 NOL3 NUDT2 NUP62 OPA1 PANK2 PDE10A PEX1 PEX16 PI4KA PIK3R5 PLEC PMP2 PMP22 POLG POLG2 POLR3B POMT1 PRNP PSAP PYROXD1 REEP1 RNU12 RPL10 RRM2B SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SGCA SGCG SH3TC2 SLC12A6 SLC19A3 SLC25A1 SLC25A4 SMG9 SNCA SPTLC1 STIM1 TAF1 TPM2 TPM3 TRNE TTN TWNK VCP VPS13D VPS35 VWA1

Diseases (109) :OMIM:161800 ORPHA:225154 OMIM:619647 ORPHA:482601 ORPHA:353327 OMIM:616227 OMIM:207800 OMIM:617523 ORPHA:309271 ORPHA:309263 ORPHA:309256 OMIM:159950 ORPHA:2590 ORPHA:100984 ORPHA:314978 ORPHA:93952 OMIM:609195 OMIM:619112 ORPHA:289560 OMIM:614807 OMIM:610687 OMIM:618438 ORPHA:1947 ORPHA:75840 ORPHA:98915 ORPHA:227510 ORPHA:98933 OMIM:619054 ORPHA:370980 ORPHA:453521 OMIM:616127 OMIM:615945 ORPHA:411602 ORPHA:239 OMIM:614228 ORPHA:171629 OMIM:300718 OMIM:611228 ORPHA:34515 OMIM:606612 OMIM:607155 ORPHA:206448 ORPHA:206443 ORPHA:101097 ORPHA:99948 OMIM:618369 OMIM:302800 ORPHA:1175 OMIM:149400 ORPHA:98818 OMIM:617691 ORPHA:746 ORPHA:324442 OMIM:255125 ORPHA:397946 OMIM:611302 ORPHA:240103 ORPHA:99947 OMIM:615673 ORPHA:3115 ORPHA:251347 OMIM:604391 ORPHA:254343 ORPHA:171881 OMIM:256030 OMIM:616924 OMIM:607684 OMIM:118700 OMIM:614937 OMIM:619844 OMIM:210000 ORPHA:216873 ORPHA:216866 OMIM:616921 ORPHA:494526 OMIM:214100 OMIM:614877 OMIM:619621 OMIM:615217 ORPHA:254361 OMIM:618279 ORPHA:254892 OMIM:607459 OMIM:619742 ORPHA:157941 OMIM:617258 OMIM:620011 ORPHA:512260 OMIM:300998 ORPHA:521411 ORPHA:466794 OMIM:616719 ORPHA:3208 ORPHA:62 ORPHA:353 ORPHA:99949 OMIM:620068 OMIM:607483 OMIM:618197 OMIM:619995 OMIM:162400 OMIM:160565 ORPHA:53351 ORPHA:2596 OMIM:603689 ORPHA:329478 ORPHA:435387 OMIM:607317 OMIM:619216
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.