Disease #05190

Official abbreviation IOLOD
Name dyskinesia, limb and orofacial, infantile-onset (IOLOD)
OMIM ID 616921
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 6
Phenotype entries for this disease 6
Associated with 1 gene PDE10A
Associated tissues -
Disease features -
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Individuals

6 entries on 1 page. Showing entries 1 - 6.
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00065117 27058446-Fam1PatV1 PubMed: Diggle 2016, Journal: Diggle 2016 2 generation family, 5 affecteds, unaffected heterozygous carrier parents, Fam1PatV1 F yes Pakistan - >17y 0 - - IOLOD muscular hypotonia of the trunk (HP:0008936), dyskinesia of the limbs and trunk (HP:0100660), chorea (HP:0002072), ballismus (HP:0100248), orolingual dyskinesia(HP:0002310), drooling (HP:0002307), dysarthria (HP_0001260), no cognitive developmental delay (-HP_0001263) PDE10A PDE10A 1 5 Pieter Klap
00065118 27058446-Fam1PatV2 PubMed: Diggle 2016, Journal: Diggle 2016 Fam1PatV2 F yes Pakistan - >16y 0 - - IOLOD muscular hypotonia of the trunk (HP:0008936), dyskinesia of the limbs and trunk (HP:0100660), chorea (HP:0002072), ballismus (HP:0100248), orolingual dyskinesia(HP:0002310), drooling (HP:0002307), dysarthria (HP_0001260), no cognitive developmental delay (-HP_0001263) PDE10A PDE10A 1 1 Pieter Klap
00065119 27058446-Fam1PatV3 PubMed: Diggle 2016, Journal: Diggle 2016 Fam1PatV3 F yes Pakistan - >13y 0 - - IOLOD muscular hypotonia of the trunk (HP:0008936), dyskinesia of the limbs and trunk (HP:0100660), chorea (HP:0002072), ballismus (HP:0100248), orolingual dyskinesia(HP:0002310), drooling (HP:0002307), dysarthria (HP_0001260), no cognitive developmental delay (-HP_0001263) PDE10A PDE10A 1 1 Pieter Klap
00065120 27058446-Fam1PatV4 PubMed: Diggle 2016, Journal: Diggle 2016 Fam1PatV4 M yes Pakistan - >02y 0 - - IOLOD muscular hypotonia of the trunk (HP:0008936), dyskinesia of the limbs and trunk (HP:0100660), chorea (HP:0002072), ballismus (HP:0100248), orolingual dyskinesia(HP:0002310), drooling (HP:0002307), dysarthria (HP_0001260), no cognitive developmental delay (-HP_0001263) PDE10A PDE10A 1 1 Pieter Klap
00065121 27058446-Fam2PatIV1 PubMed: Diggle 2016, Journal: Diggle 2016 2 generation family, affected sister/brother, unaffected heterozygous carrier parents, Fam2PatIV1 M yes Finland - >10y 0 - - IOLOD dyskinesia (HP:0100660), Myoclonus (HP:0001336), Chorea (HP:0002072), Dystonia (HP:0001332), Dysarthria (HP:0001260), Muscular hypotonia of the trunk (HP:0008936), developmental delay (HP:0001263), PDE10A PDE10A 1 2 Pieter Klap
00065122 27058446-Fam2PatIV2 PubMed: Diggle 2016, Journal: Diggle 2016 Fam2PatIV2 M yes Finland - >09y 0 - - IOLOD dyskinesia (HP:0100660), Myoclonus (HP:0001336), Chorea (HP:0002072), Dystonia (HP:0001332), Dysarthria (HP:0001260), Muscular hypotonia of the trunk (HP:0008936), developmental delay (HP:0001263), feeds via a gastrostomy tube (HP:0011968), focal epilepsy (HP:0001250) PDE10A PDE10A 1 1 Pieter Klap
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