Human Phenotype Ontology 
Grandparent Node:
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Abnormality of coordination (HP:0011443)help
Parent Node:
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Incoordination (HP:0002311)help
..Starting node
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Clumsiness (HP:0002312)help
Term ID: 2312
Name: Clumsiness
Synonym: Clumsiness
Definition: Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
Comments:
Reference: HP:0002312
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFrequent falls (HP:0002359) 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:0002312HP:0002312Clumsiness0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0002312HP:0002312Clumsiness0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0002312HP:0002312Clumsiness0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent96
HP:0002312HP:0002312Clumsiness0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0002312HP:0002312Clumsiness0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040283 - Occasional96
HP:0002312HP:0002312Clumsiness0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0002312HP:0002312Clumsiness0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0002312HP:0002312Clumsiness0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0002312HP:0002312Clumsiness0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040282 - Frequent78
HP:0002312HP:0002312Clumsiness0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0002312HP:0002312Clumsiness0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0002312HP:0002312Clumsiness0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0002312HP:0002312Clumsiness0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0002312HP:0002312Clumsiness0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0002312HP:0002312Clumsiness0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional53
HP:0002312HP:0002312Clumsiness0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A.323
HP:0002312HP:0002312Clumsiness0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama typeHP:0040283 - Occasional148
HP:0002312HP:0002312Clumsiness0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0002312HP:0002312Clumsiness0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional9
HP:0002312HP:0002312Clumsiness0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040283 - Occasional27
HP:0002312HP:0002312Clumsiness0CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5.141
HP:0002312HP:0002312Clumsiness0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0002312HP:0002312Clumsiness0CLN8 CL E G H20552079OMIM:610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant.111
HP:0002312HP:0002312Clumsiness0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0002312HP:0002312Clumsiness0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0002312HP:0002312Clumsiness0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0002312HP:0002312Clumsiness0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0002312HP:0002312Clumsiness0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0002312HP:0002312Clumsiness0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0002312HP:0002312Clumsiness0DCC CL E G H16302701ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent36
HP:0002312HP:0002312Clumsiness0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040283 - Occasional33
HP:0002312HP:0002312Clumsiness0DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent2
HP:0002312HP:0002312Clumsiness0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional4
HP:0002312HP:0002312Clumsiness0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0002312HP:0002312Clumsiness0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0002312HP:0002312Clumsiness0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0002312HP:0002312Clumsiness0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0002312HP:0002312Clumsiness0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional434
HP:0002312HP:0002312Clumsiness0HAX1 CL E G H1045616915OMIM:610738NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN332
HP:0002312HP:0002312Clumsiness0HEPACAM CL E G H22029626361OMIM:613926Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation.82
HP:0002312HP:0002312Clumsiness0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0002312HP:0002312Clumsiness0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent80
HP:0002312HP:0002312Clumsiness0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040282 - Frequent145
HP:0002312HP:0002312Clumsiness0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0002312HP:0002312Clumsiness0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002312HP:0002312Clumsiness0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent13
HP:0002312HP:0002312Clumsiness0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0002312HP:0002312Clumsiness0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0002312HP:0002312Clumsiness0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndromeHP:0040283 - Occasional140
HP:0002312HP:0002312Clumsiness0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0002312HP:0002312Clumsiness0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002312HP:0002312Clumsiness0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0002312HP:0002312Clumsiness0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0002312HP:0002312Clumsiness0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent217
HP:0002312HP:0002312Clumsiness0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent745
HP:0002312HP:0002312Clumsiness0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0002312HP:0002312Clumsiness0NR4A2 CL E G H49297981OMIM:61991127
HP:0002312HP:0002312Clumsiness0NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent
HP:0002312HP:0002312Clumsiness0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0002312HP:0002312Clumsiness0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040284 - Very rare55
HP:0002312HP:0002312Clumsiness0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0002312HP:0002312Clumsiness0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0002312HP:0002312Clumsiness0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0002312HP:0002312Clumsiness0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0002312HP:0002312Clumsiness0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0002312HP:0002312Clumsiness0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0002312HP:0002312Clumsiness0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0002312HP:0002312Clumsiness0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0002312HP:0002312Clumsiness0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0002312HP:0002312Clumsiness0RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent9
HP:0002312HP:0002312Clumsiness0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0002312HP:0002312Clumsiness0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040283 - Occasional7
HP:0002312HP:0002312Clumsiness0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0002312HP:0002312Clumsiness0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0002312HP:0002312Clumsiness0SLC22A5 CL E G H658410969ORPHA:158Systemic primary carnitine deficiencyHP:0040281 - Very frequent207
HP:0002312HP:0002312Clumsiness0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0002312HP:0002312Clumsiness0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0002312HP:0002312Clumsiness0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0002312HP:0002312Clumsiness0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0002312HP:0002312Clumsiness0SNRPN CL E G H663811164OMIM:105830Angelman syndromeHP:0040281 - Very frequent37
HP:0002312HP:0002312Clumsiness0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent62
HP:0002312HP:0002312Clumsiness0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0002312HP:0002312Clumsiness0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0002312HP:0002312Clumsiness0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent5
HP:0002312HP:0002312Clumsiness0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent54
HP:0002312HP:0002312Clumsiness0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent108
HP:0002312HP:0002312Clumsiness0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0002312HP:0002312Clumsiness0TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7.203
HP:0002312HP:0002312Clumsiness0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040283 - Occasional9
HP:0002312HP:0002312Clumsiness0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040283 - Occasional7128
HP:0002312HP:0002312Clumsiness0TTPA CL E G H727412404OMIM:277460VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF62
HP:0002312HP:0002312Clumsiness0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0002312HP:0002312Clumsiness0UBE3A CL E G H733712496OMIM:105830Angelman syndromeHP:0040281 - Very frequent278


Genes (79) :AASS ACOX1 ACTA1 AFF2 ALG13 ARSA ASAH1 ATP2B3 ATP7B ATXN3 BSND CAPN3 CAV3 CHD8 CLCNKA CLCNKB CLN5 CLN8 CLTC CPLX1 CWF19L1 DARS2 DCC DEAF1 DNAL4 FRRS1L GALC GALT GJB1 GRIN2A HAX1 HEPACAM HTT KBTBD13 KCNA1 KCNC3 KDM4B KLHL41 MAN2B1 MAPT MECR MICU1 MORC2 MPZ MYPN NEB NKX2-1 NR4A2 NTN1 PAK3 PANK2 PLA2G6 PMP22 POLR3A PRNP PSAP RAD51 RNF125 RNF168 SCO2 SDHA SLC22A5 SLC2A3 SLC39A14 SLC52A2 SLC52A3 SNRPN SQSTM1 SYNE1 TBC1D24 TIA1 TPM2 TPM3 TPP1 TSHB TTN TTPA TWNK UBE3A

Diseases (73) :ORPHA:2203 OMIM:618960 ORPHA:171439 ORPHA:100973 ORPHA:324422 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:2590 ORPHA:314978 ORPHA:905 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:89938 OMIM:253600 ORPHA:488650 OMIM:615032 OMIM:256731 ORPHA:228360 OMIM:610003 ORPHA:1947 OMIM:617854 ORPHA:352582 ORPHA:453521 OMIM:616127 ORPHA:137898 ORPHA:238722 ORPHA:468620 ORPHA:725 ORPHA:206448 ORPHA:206443 ORPHA:79239 ORPHA:1175 OMIM:610738 OMIM:613926 ORPHA:399 ORPHA:37612 ORPHA:98768 OMIM:619320 ORPHA:309288 ORPHA:309282 ORPHA:240112 OMIM:617282 OMIM:615673 OMIM:616688 ORPHA:3115 ORPHA:209905 OMIM:619911 OMIM:300558 ORPHA:216873 ORPHA:199351 OMIM:612953 ORPHA:447896 ORPHA:157941 ORPHA:282166 OMIM:616260 ORPHA:420741 ORPHA:521411 OMIM:619259 ORPHA:158 OMIM:617013 OMIM:614707 OMIM:211530 OMIM:105830 ORPHA:603 ORPHA:88644 ORPHA:284324 OMIM:609270 ORPHA:90674 ORPHA:609 OMIM:277460 OMIM:271245
 

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