Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Diminished movement (HP:0002374)help
..Starting node
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Hypokinesia (HP:0002375)help
Term ID: 2375
Name: Hypokinesia
Synonym: Decreased muscle movement; Decreased spontaneous movement; Decreased spontaneous movements
Definition: Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
Comments:
Reference: HP:0002375
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAkinesia (HP:0002304) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002375HP:0002375Hypokinesia0ACTA1 CL E G H58171430ORPHA1362129102610
HP:0002375HP:0002375Hypokinesia0ACTA1 CL E G H58171430ORPHA1325129102610
HP:0002375HP:0002375Hypokinesia0ACTA1 CL E G H58171433ORPHA1362129102610
HP:0002375HP:0002375Hypokinesia0ACTA1 CL E G H58171433ORPHA1325129102610
HP:0002375HP:0002375Hypokinesia0AIFM1 CL E G H9131238329ORPHA14508768300169
HP:0002375HP:0002375Hypokinesia0AIFM1 CL E G H9131238329ORPHA14138768300169
HP:0002375HP:0002375Hypokinesia0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14508768300169
HP:0002375HP:0002375Hypokinesia0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14138768300169
HP:0002375HP:0002375Hypokinesia0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM148730213610513
HP:0002375HP:0002375Hypokinesia0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM160930213610513
HP:0002375HP:0002375Hypokinesia0DOK7 CL E G H285489994ORPHA164526594610285
HP:0002375HP:0002375Hypokinesia0DOK7 CL E G H285489994ORPHA175026594610285
HP:0002375HP:0002375Hypokinesia0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11233006603564
HP:0002375HP:0002375Hypokinesia0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11133006603564
HP:0002375HP:0002375Hypokinesia0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12694177606463
HP:0002375HP:0002375Hypokinesia0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12614177606463
HP:0002375HP:0002375Hypokinesia0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM138513780606639
HP:0002375HP:0002375Hypokinesia0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM143213780606639
HP:0002375HP:0002375Hypokinesia0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13424326138491
HP:0002375HP:0002375Hypokinesia0GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM12994326138491
HP:0002375HP:0002375Hypokinesia0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM127615465603930
HP:0002375HP:0002375Hypokinesia0GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM137415465603930
HP:0002375HP:0002375Hypokinesia0KLHL40 CL E G H131377171430ORPHA133930372615340
HP:0002375HP:0002375Hypokinesia0KLHL40 CL E G H131377171430ORPHA126930372615340
HP:0002375HP:0002375Hypokinesia0KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0002375HP:0002375Hypokinesia0KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0002375HP:0002375Hypokinesia0KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0002375HP:0002375Hypokinesia0KLHL41 CL E G H10324171430ORPHA119916905607701
HP:0002375HP:0002375Hypokinesia0KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0002375HP:0002375Hypokinesia0KLHL41 CL E G H10324171430ORPHA115716905607701
HP:0002375HP:0002375Hypokinesia0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA127396482156225
HP:0002375HP:0002375Hypokinesia0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA123276482156225
HP:0002375HP:0002375Hypokinesia0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM16726501309060
HP:0002375HP:0002375Hypokinesia0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17266501309060
HP:0002375HP:0002375Hypokinesia0LMOD3 CL E G H56203171430ORPHA13086649616112
HP:0002375HP:0002375Hypokinesia0LMOD3 CL E G H56203171430ORPHA12406649616112
HP:0002375HP:0002375Hypokinesia0MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM14937225159440
HP:0002375HP:0002375Hypokinesia0MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM15227225159440
HP:0002375HP:0002375Hypokinesia0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM16014048609204
HP:0002375HP:0002375Hypokinesia0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM16914048609204
HP:0002375HP:0002375Hypokinesia0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16107448300415
HP:0002375HP:0002375Hypokinesia0MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16487448300415
HP:0002375HP:0002375Hypokinesia0MUSK CL E G H4593994ORPHA14507525601296
HP:0002375HP:0002375Hypokinesia0MUSK CL E G H4593994ORPHA13837525601296
HP:0002375HP:0002375Hypokinesia0MYOD1 CL E G H4654994ORPHA1347611159970
HP:0002375HP:0002375Hypokinesia0NEB CL E G H4703171430ORPHA153137720161650
HP:0002375HP:0002375Hypokinesia0NEB CL E G H4703171430ORPHA146747720161650
HP:0002375HP:0002375Hypokinesia0NEB CL E G H4703171433ORPHA153137720161650
HP:0002375HP:0002375Hypokinesia0NEB CL E G H4703171433ORPHA146747720161650
HP:0002375HP:0002375Hypokinesia0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM17829679614336
HP:0002375HP:0002375Hypokinesia0PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM15929679614336
HP:0002375HP:0002375Hypokinesia0PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM11558794603390
HP:0002375HP:0002375Hypokinesia0PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM11398794603390
HP:0002375HP:0002375Hypokinesia0RAPSN CL E G H5913994ORPHA13789863601592
HP:0002375HP:0002375Hypokinesia0RAPSN CL E G H5913994ORPHA13229863601592
HP:0002375HP:0002375Hypokinesia0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM132830224607882
HP:0002375HP:0002375Hypokinesia0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM139130224607882
HP:0002375HP:0002375Hypokinesia0SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0002375HP:0002375Hypokinesia0SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0002375HP:0002375Hypokinesia0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM116611138163890
HP:0002375HP:0002375Hypokinesia0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM115411138163890
HP:0002375HP:0002375Hypokinesia0TH CL E G H7054101150ORPHA165511782191290
HP:0002375HP:0002375Hypokinesia0TH CL E G H7054101150ORPHA155011782191290
HP:0002375HP:0002375Hypokinesia0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM165511782191290
HP:0002375HP:0002375Hypokinesia0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM155011782191290
HP:0002375HP:0002375Hypokinesia0TPM3 CL E G H7170171433ORPHA128312012191030
HP:0002375HP:0002375Hypokinesia0TPM3 CL E G H7170171433ORPHA126112012191030
HP:0002375HP:0002375Hypokinesia0WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM187912799605131
HP:0002375HP:0002375Hypokinesia0WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM176712799605131
HP:0002375HP:0033413Upper extremity hypokinesia1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0002375HP:0033414Lower extremity hypokinesia1ACTA1 CL E G H58171430ORPHA1362129102610
HP:0002375HP:0033413Upper extremity hypokinesia1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0002375HP:0033414Lower extremity hypokinesia1ACTA1 CL E G H58171430ORPHA1325129102610
HP:0002375HP:0033413Upper extremity hypokinesia1ACTA1 CL E G H58171430ORPHA1362129102610
HP:0002375HP:0033414Lower extremity hypokinesia1ACTA1 CL E G H58171433ORPHA1362129102610
HP:0002375HP:0033414Lower extremity hypokinesia1ACTA1 CL E G H58171433ORPHA1325129102610
HP:0002375HP:0033413Upper extremity hypokinesia1ACTA1 CL E G H58171430ORPHA1325129102610
HP:0002375HP:0033413Upper extremity hypokinesia1AIFM1 CL E G H9131238329ORPHA14508768300169
HP:0002375HP:0033413Upper extremity hypokinesia1AIFM1 CL E G H9131238329ORPHA14138768300169
HP:0002375HP:0033414Lower extremity hypokinesia1AIFM1 CL E G H9131238329ORPHA14508768300169
HP:0002375HP:0033414Lower extremity hypokinesia1AIFM1 CL E G H9131238329ORPHA14138768300169
HP:0002375HP:0033413Upper extremity hypokinesia1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14138768300169
HP:0002375HP:0033414Lower extremity hypokinesia1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14508768300169
HP:0002375HP:0033414Lower extremity hypokinesia1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14138768300169
HP:0002375HP:0033413Upper extremity hypokinesia1AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM14508768300169
HP:0002375HP:0033414Lower extremity hypokinesia1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM148730213610513
HP:0002375HP:0033413Upper extremity hypokinesia1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM160930213610513
HP:0002375HP:0033413Upper extremity hypokinesia1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM148730213610513
HP:0002375HP:0033414Lower extremity hypokinesia1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM160930213610513
HP:0002375HP:0033414Lower extremity hypokinesia1DOK7 CL E G H285489994ORPHA164526594610285
HP:0002375HP:0033413Upper extremity hypokinesia1DOK7 CL E G H285489994ORPHA175026594610285
HP:0002375HP:0033413Upper extremity hypokinesia1DOK7 CL E G H285489994ORPHA164526594610285
HP:0002375HP:0033414Lower extremity hypokinesia1DOK7 CL E G H285489994ORPHA175026594610285
HP:0002375HP:0033413Upper extremity hypokinesia1DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11133006603564
HP:0002375HP:0033414Lower extremity hypokinesia1DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11233006603564
HP:0002375HP:0033414Lower extremity hypokinesia1DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11133006603564
HP:0002375HP:0033413Upper extremity hypokinesia1DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11233006603564
HP:0002375HP:0033413Upper extremity hypokinesia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12614177606463
HP:0002375HP:0033414Lower extremity hypokinesia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12694177606463
HP:0002375HP:0033414Lower extremity hypokinesia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12614177606463
HP:0002375HP:0033413Upper extremity hypokinesia1GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM12694177606463
HP:0002375HP:0033414Lower extremity hypokinesia1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM138513780606639
HP:0002375HP:0033413Upper extremity hypokinesia1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM143213780606639
HP:0002375HP:0033413Upper extremity hypokinesia1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM138513780606639
HP:0002375HP:0033414Lower extremity hypokinesia1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM143213780606639
HP:0002375HP:0033413Upper extremity hypokinesia1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM12994326138491
HP:0002375HP:0033414Lower extremity hypokinesia1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13424326138491
HP:0002375HP:0033414Lower extremity hypokinesia1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM12994326138491
HP:0002375HP:0033413Upper extremity hypokinesia1GLRA1 CL E G H2741149400Hyperekplexia hereditary149400C1835614OMIM13424326138491
HP:0002375HP:0033414Lower extremity hypokinesia1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM127615465603930
HP:0002375HP:0033413Upper extremity hypokinesia1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM137415465603930
HP:0002375HP:0033413Upper extremity hypokinesia1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM127615465603930
HP:0002375HP:0033414Lower extremity hypokinesia1GPHN CL E G H10243149400Hyperekplexia hereditary149400C1835614OMIM137415465603930
HP:0002375HP:0033413Upper extremity hypokinesia1KLHL40 CL E G H131377171430ORPHA133930372615340
HP:0002375HP:0033413Upper extremity hypokinesia1KLHL40 CL E G H131377171430ORPHA126930372615340
HP:0002375HP:0033414Lower extremity hypokinesia1KLHL40 CL E G H131377171430ORPHA133930372615340
HP:0002375HP:0033414Lower extremity hypokinesia1KLHL40 CL E G H131377171430ORPHA126930372615340
HP:0002375HP:0033414Lower extremity hypokinesia1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0002375HP:0033413Upper extremity hypokinesia1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0002375HP:0033413Upper extremity hypokinesia1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM126930372615340
HP:0002375HP:0033414Lower extremity hypokinesia1KLHL40 CL E G H131377615348Nemaline myopathy 8615348C3809209OMIM133930372615340
HP:0002375HP:0033414Lower extremity hypokinesia1KLHL41 CL E G H10324171430ORPHA119916905607701
HP:0002375HP:0033414Lower extremity hypokinesia1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0002375HP:0033414Lower extremity hypokinesia1KLHL41 CL E G H10324171430ORPHA115716905607701
HP:0002375HP:0033414Lower extremity hypokinesia1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0002375HP:0033413Upper extremity hypokinesia1KLHL41 CL E G H10324171430ORPHA119916905607701
HP:0002375HP:0033413Upper extremity hypokinesia1KLHL41 CL E G H10324171433ORPHA119916905607701
HP:0002375HP:0033413Upper extremity hypokinesia1KLHL41 CL E G H10324171430ORPHA115716905607701
HP:0002375HP:0033413Upper extremity hypokinesia1KLHL41 CL E G H10324171433ORPHA115716905607701
HP:0002375HP:0033413Upper extremity hypokinesia1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA123276482156225
HP:0002375HP:0033414Lower extremity hypokinesia1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA127396482156225
HP:0002375HP:0033414Lower extremity hypokinesia1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA123276482156225
HP:0002375HP:0033413Upper extremity hypokinesia1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA127396482156225
HP:0002375HP:0033414Lower extremity hypokinesia1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM16726501309060
HP:0002375HP:0033413Upper extremity hypokinesia1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17266501309060
HP:0002375HP:0033413Upper extremity hypokinesia1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM16726501309060
HP:0002375HP:0033414Lower extremity hypokinesia1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17266501309060
HP:0002375HP:0033413Upper extremity hypokinesia1LMOD3 CL E G H56203171430ORPHA13086649616112
HP:0002375HP:0033413Upper extremity hypokinesia1LMOD3 CL E G H56203171430ORPHA12406649616112
HP:0002375HP:0033414Lower extremity hypokinesia1LMOD3 CL E G H56203171430ORPHA13086649616112
HP:0002375HP:0033414Lower extremity hypokinesia1LMOD3 CL E G H56203171430ORPHA12406649616112
HP:0002375HP:0033414Lower extremity hypokinesia1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM14937225159440
HP:0002375HP:0033413Upper extremity hypokinesia1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM15227225159440
HP:0002375HP:0033413Upper extremity hypokinesia1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM14937225159440
HP:0002375HP:0033414Lower extremity hypokinesia1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM15227225159440
HP:0002375HP:0033414Lower extremity hypokinesia1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM16014048609204
HP:0002375HP:0033413Upper extremity hypokinesia1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM16914048609204
HP:0002375HP:0033413Upper extremity hypokinesia1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM16014048609204
HP:0002375HP:0033414Lower extremity hypokinesia1MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM16914048609204
HP:0002375HP:0033414Lower extremity hypokinesia1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16107448300415
HP:0002375HP:0033413Upper extremity hypokinesia1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16487448300415
HP:0002375HP:0033413Upper extremity hypokinesia1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16107448300415
HP:0002375HP:0033414Lower extremity hypokinesia1MTM1 CL E G H4534310400Severe X-linked myotubular myopathy310400C0410203OMIM16487448300415
HP:0002375HP:0033413Upper extremity hypokinesia1MUSK CL E G H4593994ORPHA13837525601296
HP:0002375HP:0033414Lower extremity hypokinesia1MUSK CL E G H4593994ORPHA14507525601296
HP:0002375HP:0033414Lower extremity hypokinesia1MUSK CL E G H4593994ORPHA13837525601296
HP:0002375HP:0033413Upper extremity hypokinesia1MUSK CL E G H4593994ORPHA14507525601296
HP:0002375HP:0033414Lower extremity hypokinesia1MYOD1 CL E G H4654994ORPHA1347611159970
HP:0002375HP:0033413Upper extremity hypokinesia1MYOD1 CL E G H4654994ORPHA1347611159970
HP:0002375HP:0033414Lower extremity hypokinesia1NEB CL E G H4703171430ORPHA153137720161650
HP:0002375HP:0033413Upper extremity hypokinesia1NEB CL E G H4703171433ORPHA153137720161650
HP:0002375HP:0033414Lower extremity hypokinesia1NEB CL E G H4703171430ORPHA146747720161650
HP:0002375HP:0033413Upper extremity hypokinesia1NEB CL E G H4703171433ORPHA146747720161650
HP:0002375HP:0033414Lower extremity hypokinesia1NEB CL E G H4703171433ORPHA153137720161650
HP:0002375HP:0033413Upper extremity hypokinesia1NEB CL E G H4703171430ORPHA153137720161650
HP:0002375HP:0033414Lower extremity hypokinesia1NEB CL E G H4703171433ORPHA146747720161650
HP:0002375HP:0033413Upper extremity hypokinesia1NEB CL E G H4703171430ORPHA146747720161650
HP:0002375HP:0033413Upper extremity hypokinesia1PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM15929679614336
HP:0002375HP:0033414Lower extremity hypokinesia1PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM17829679614336
HP:0002375HP:0033414Lower extremity hypokinesia1PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM15929679614336
HP:0002375HP:0033413Upper extremity hypokinesia1PAM16 CL E G H51025613320Spondylometaphyseal dysplasia, megarbane-dagher-melki type613320C2750075OMIM17829679614336
HP:0002375HP:0033413Upper extremity hypokinesia1PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM11398794603390
HP:0002375HP:0033414Lower extremity hypokinesia1PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM11558794603390
HP:0002375HP:0033414Lower extremity hypokinesia1PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM11398794603390
HP:0002375HP:0033413Upper extremity hypokinesia1PDE8B CL E G H8622609161Striatal degeneration, autosomal dominant 1609161C4310808OMIM11558794603390
HP:0002375HP:0033414Lower extremity hypokinesia1RAPSN CL E G H5913994ORPHA13789863601592
HP:0002375HP:0033414Lower extremity hypokinesia1RAPSN CL E G H5913994ORPHA13229863601592
HP:0002375HP:0033413Upper extremity hypokinesia1RAPSN CL E G H5913994ORPHA13789863601592
HP:0002375HP:0033413Upper extremity hypokinesia1RAPSN CL E G H5913994ORPHA13229863601592
HP:0002375HP:0033414Lower extremity hypokinesia1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM132830224607882
HP:0002375HP:0033413Upper extremity hypokinesia1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM139130224607882
HP:0002375HP:0033413Upper extremity hypokinesia1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM132830224607882
HP:0002375HP:0033414Lower extremity hypokinesia1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM139130224607882
HP:0002375HP:0033414Lower extremity hypokinesia1SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0002375HP:0033414Lower extremity hypokinesia1SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0002375HP:0033413Upper extremity hypokinesia1SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0002375HP:0033413Upper extremity hypokinesia1SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0002375HP:0033413Upper extremity hypokinesia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM115411138163890
HP:0002375HP:0033414Lower extremity hypokinesia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM116611138163890
HP:0002375HP:0033414Lower extremity hypokinesia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM115411138163890
HP:0002375HP:0033413Upper extremity hypokinesia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM116611138163890
HP:0002375HP:0033414Lower extremity hypokinesia1TH CL E G H7054101150ORPHA165511782191290
HP:0002375HP:0033414Lower extremity hypokinesia1TH CL E G H7054101150ORPHA155011782191290
HP:0002375HP:0033413Upper extremity hypokinesia1TH CL E G H7054101150ORPHA165511782191290
HP:0002375HP:0033413Upper extremity hypokinesia1TH CL E G H7054101150ORPHA155011782191290
HP:0002375HP:0033413Upper extremity hypokinesia1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM155011782191290
HP:0002375HP:0033414Lower extremity hypokinesia1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM165511782191290
HP:0002375HP:0033414Lower extremity hypokinesia1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM155011782191290
HP:0002375HP:0033413Upper extremity hypokinesia1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM165511782191290
HP:0002375HP:0033414Lower extremity hypokinesia1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0002375HP:0033414Lower extremity hypokinesia1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0002375HP:0033413Upper extremity hypokinesia1TPM3 CL E G H7170171433ORPHA128312012191030
HP:0002375HP:0033413Upper extremity hypokinesia1TPM3 CL E G H7170171433ORPHA126112012191030
HP:0002375HP:0033413Upper extremity hypokinesia1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM176712799605131
HP:0002375HP:0033414Lower extremity hypokinesia1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM187912799605131
HP:0002375HP:0033414Lower extremity hypokinesia1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM176712799605131
HP:0002375HP:0033413Upper extremity hypokinesia1WWOX CL E G H51741616211Epileptic encephalopathy, early infantile, 28616211C4015519OMIM187912799605131
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002375HP:0002375Hypokinesia0ACTA1 CL E G H58171436ORPHA0362129102610
HP:0002375HP:0002375Hypokinesia0ACTA1 CL E G H58171436ORPHA0325129102610
HP:0002375HP:0002375Hypokinesia0CFL2 CL E G H1073171436ORPHA01391875601443
HP:0002375HP:0002375Hypokinesia0CFL2 CL E G H1073171436ORPHA01281875601443
HP:0002375HP:0002375Hypokinesia0KLHL41 CL E G H10324171436ORPHA019916905607701
HP:0002375HP:0002375Hypokinesia0KLHL41 CL E G H10324171436ORPHA015716905607701
HP:0002375HP:0002375Hypokinesia0LMOD3 CL E G H56203171436ORPHA03086649616112
HP:0002375HP:0002375Hypokinesia0LMOD3 CL E G H56203171436ORPHA02406649616112
HP:0002375HP:0002375Hypokinesia0NEB CL E G H4703171436ORPHA053137720161650
HP:0002375HP:0002375Hypokinesia0NEB CL E G H4703171436ORPHA046747720161650
HP:0002375HP:0002375Hypokinesia0POLG CL E G H5428254892ORPHA017129179174763
HP:0002375HP:0002375Hypokinesia0POLG CL E G H5428254892ORPHA014709179174763
HP:0002375HP:0002375Hypokinesia0POLG2 CL E G H11232254892ORPHA02049180604983
HP:0002375HP:0002375Hypokinesia0POLG2 CL E G H11232254892ORPHA01339180604983
HP:0002375HP:0002375Hypokinesia0PPP2R2B CL E G H552198762ORPHA0389305604325
HP:0002375HP:0002375Hypokinesia0PPP2R2B CL E G H552198762ORPHA0369305604325
HP:0002375HP:0002375Hypokinesia0PRNP CL E G H5621157941ORPHA01469449176640
HP:0002375HP:0002375Hypokinesia0PRNP CL E G H5621157941ORPHA01319449176640
HP:0002375HP:0002375Hypokinesia0RRM2B CL E G H50484254892ORPHA027217296604712
HP:0002375HP:0002375Hypokinesia0RRM2B CL E G H50484254892ORPHA026117296604712
HP:0002375HP:0002375Hypokinesia0SLC25A4 CL E G H291254892ORPHA026110990103220
HP:0002375HP:0002375Hypokinesia0SLC25A4 CL E G H291254892ORPHA025410990103220
HP:0002375HP:0002375Hypokinesia0TPM2 CL E G H7169171436ORPHA024212011190990
HP:0002375HP:0002375Hypokinesia0TPM2 CL E G H7169171436ORPHA023412011190990
HP:0002375HP:0002375Hypokinesia0TWNK CL E G H56652254892ORPHA02701160606075
HP:0002375HP:0002375Hypokinesia0TWNK CL E G H56652254892ORPHA02341160606075
HP:0002375HP:0033413Upper extremity hypokinesia1ACTA1 CL E G H58171436ORPHA0362129102610
HP:0002375HP:0033413Upper extremity hypokinesia1ACTA1 CL E G H58171436ORPHA0325129102610
HP:0002375HP:0033414Lower extremity hypokinesia1ACTA1 CL E G H58171436ORPHA0362129102610
HP:0002375HP:0033414Lower extremity hypokinesia1ACTA1 CL E G H58171436ORPHA0325129102610
HP:0002375HP:0033414Lower extremity hypokinesia1CFL2 CL E G H1073171436ORPHA01391875601443
HP:0002375HP:0033414Lower extremity hypokinesia1CFL2 CL E G H1073171436ORPHA01281875601443
HP:0002375HP:0033413Upper extremity hypokinesia1CFL2 CL E G H1073171436ORPHA01391875601443
HP:0002375HP:0033413Upper extremity hypokinesia1CFL2 CL E G H1073171436ORPHA01281875601443
HP:0002375HP:0033413Upper extremity hypokinesia1KLHL41 CL E G H10324171436ORPHA019916905607701
HP:0002375HP:0033413Upper extremity hypokinesia1KLHL41 CL E G H10324171436ORPHA015716905607701
HP:0002375HP:0033414Lower extremity hypokinesia1KLHL41 CL E G H10324171436ORPHA019916905607701
HP:0002375HP:0033414Lower extremity hypokinesia1KLHL41 CL E G H10324171436ORPHA015716905607701
HP:0002375HP:0033414Lower extremity hypokinesia1LMOD3 CL E G H56203171436ORPHA03086649616112
HP:0002375HP:0033414Lower extremity hypokinesia1LMOD3 CL E G H56203171436ORPHA02406649616112
HP:0002375HP:0033413Upper extremity hypokinesia1LMOD3 CL E G H56203171436ORPHA03086649616112
HP:0002375HP:0033413Upper extremity hypokinesia1LMOD3 CL E G H56203171436ORPHA02406649616112
HP:0002375HP:0033413Upper extremity hypokinesia1NEB CL E G H4703171436ORPHA053137720161650
HP:0002375HP:0033413Upper extremity hypokinesia1NEB CL E G H4703171436ORPHA046747720161650
HP:0002375HP:0033414Lower extremity hypokinesia1NEB CL E G H4703171436ORPHA053137720161650
HP:0002375HP:0033414Lower extremity hypokinesia1NEB CL E G H4703171436ORPHA046747720161650
HP:0002375HP:0033413Upper extremity hypokinesia1POLG CL E G H5428254892ORPHA017129179174763
HP:0002375HP:0033413Upper extremity hypokinesia1POLG CL E G H5428254892ORPHA014709179174763
HP:0002375HP:0033414Lower extremity hypokinesia1POLG CL E G H5428254892ORPHA017129179174763
HP:0002375HP:0033414Lower extremity hypokinesia1POLG CL E G H5428254892ORPHA014709179174763
HP:0002375HP:0033414Lower extremity hypokinesia1POLG2 CL E G H11232254892ORPHA02049180604983
HP:0002375HP:0033414Lower extremity hypokinesia1POLG2 CL E G H11232254892ORPHA01339180604983
HP:0002375HP:0033413Upper extremity hypokinesia1POLG2 CL E G H11232254892ORPHA02049180604983
HP:0002375HP:0033413Upper extremity hypokinesia1POLG2 CL E G H11232254892ORPHA01339180604983
HP:0002375HP:0033413Upper extremity hypokinesia1PPP2R2B CL E G H552198762ORPHA0389305604325
HP:0002375HP:0033413Upper extremity hypokinesia1PPP2R2B CL E G H552198762ORPHA0369305604325
HP:0002375HP:0033414Lower extremity hypokinesia1PPP2R2B CL E G H552198762ORPHA0389305604325
HP:0002375HP:0033414Lower extremity hypokinesia1PPP2R2B CL E G H552198762ORPHA0369305604325
HP:0002375HP:0033413Upper extremity hypokinesia1PRNP CL E G H5621157941ORPHA01469449176640
HP:0002375HP:0033413Upper extremity hypokinesia1PRNP CL E G H5621157941ORPHA01319449176640
HP:0002375HP:0033414Lower extremity hypokinesia1PRNP CL E G H5621157941ORPHA01469449176640
HP:0002375HP:0033414Lower extremity hypokinesia1PRNP CL E G H5621157941ORPHA01319449176640
HP:0002375HP:0033413Upper extremity hypokinesia1RRM2B CL E G H50484254892ORPHA027217296604712
HP:0002375HP:0033413Upper extremity hypokinesia1RRM2B CL E G H50484254892ORPHA026117296604712
HP:0002375HP:0033414Lower extremity hypokinesia1RRM2B CL E G H50484254892ORPHA027217296604712
HP:0002375HP:0033414Lower extremity hypokinesia1RRM2B CL E G H50484254892ORPHA026117296604712
HP:0002375HP:0033414Lower extremity hypokinesia1SLC25A4 CL E G H291254892ORPHA026110990103220
HP:0002375HP:0033414Lower extremity hypokinesia1SLC25A4 CL E G H291254892ORPHA025410990103220
HP:0002375HP:0033413Upper extremity hypokinesia1SLC25A4 CL E G H291254892ORPHA026110990103220
HP:0002375HP:0033413Upper extremity hypokinesia1SLC25A4 CL E G H291254892ORPHA025410990103220
HP:0002375HP:0033414Lower extremity hypokinesia1TPM2 CL E G H7169171436ORPHA024212011190990
HP:0002375HP:0033414Lower extremity hypokinesia1TPM2 CL E G H7169171436ORPHA023412011190990
HP:0002375HP:0033413Upper extremity hypokinesia1TPM2 CL E G H7169171436ORPHA024212011190990
HP:0002375HP:0033413Upper extremity hypokinesia1TPM2 CL E G H7169171436ORPHA023412011190990
HP:0002375HP:0033413Upper extremity hypokinesia1TWNK CL E G H56652254892ORPHA02701160606075
HP:0002375HP:0033413Upper extremity hypokinesia1TWNK CL E G H56652254892ORPHA02341160606075
HP:0002375HP:0033414Lower extremity hypokinesia1TWNK CL E G H56652254892ORPHA02701160606075
HP:0002375HP:0033414Lower extremity hypokinesia1TWNK CL E G H56652254892ORPHA02341160606075


Genes (38) :ACTA1 AIFM1 ATP13A2 CFL2 DOK7 DPM2 GBA GFM1 GLRA1 GPHN KLHL40 KLHL41 LAMA2 LAMP2 LMOD3 MPZ MRPS16 MTM1 MUSK MYOD1 NEB PAM16 PDE8B POLG POLG2 PPP2R2B PRNP RAPSN RRM2B SLC25A4 SLC52A2 SLC6A3 SNCA TH TPM2 TPM3 TWNK WWOX

Diseases (28) :171433 171430 171436 238329 300816 606693 994 615042 608013 609060 149400 615348 258 300257 618184 610498 310400 613320 609161 254892 98762 157941 614707 238455 168601 101150 605407 616211
 

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