All individuals with variants in gene PDE10A

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     
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VIP     
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Disease     
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Owner     
00065109 27058447 induvidual 1 PubMed: Mencacci 2016, Journal: Mencacci 2016 - M - (Netherlands) European >11y - - - ADSD2 no neural developmental delay (-HP:0001263), no Cognitive impairment (-HP:0100543), Bilateral striatal swelling (HP:0010994), Bilateral striatal hyperintensities (HP:0010994), No bilateral striatal atrophy (-HP:0010994), restriction of diffusion 1 1 Pieter Klap
00065110 27058447 induvidual 2 PubMed: Mencacci 2016, Journal: Mencacci 2016 - F - (United Kingdom (Great Britain)) European >22y - - - ADSD2 no neural developmental delay (-HP:0001263), no Cognitive impairment (-HP:0100543), Bilateral striatal hyperintensities (HP:0010994), No bilateral striatal swelling (-HP:0010994), No restriction of diffusion, Bilateral striatal atrophy (HP:0010994), Anxiety (HP:0000739) 1 1 Pieter Klap
00065113 27058447 induvidual 3 PubMed: Mencacci 2016, Journal: Mencacci 2016 - F - (United Kingdom (Great Britain)) European >60y - - - ADSD2 no neural developmental delay (-HP:0001263), no Cognitive impairment (-HP:0100543), Bilateral striatal hyperintensities (HP:0010994), No bilateral striatal swelling (-HP:0010994), Bilateral striatal atrophy (HP:0010994), adult-onset parkinsonism (HP:0001300) 1 1 Pieter Klap
00065117 27058446-Fam1PatV1 PubMed: Diggle 2016, Journal: Diggle 2016 2 generation family, 5 affecteds, unaffected heterozygous carrier parents, Fam1PatV1 F yes Pakistan - >17y - - - 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) 1 5 Pieter Klap
00065118 27058446-Fam1PatV2 PubMed: Diggle 2016, Journal: Diggle 2016 Fam1PatV2 F yes Pakistan - >16y - - - 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) 1 1 Pieter Klap
00065119 27058446-Fam1PatV3 PubMed: Diggle 2016, Journal: Diggle 2016 Fam1PatV3 F yes Pakistan - >13y - - - 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) 1 1 Pieter Klap
00065120 27058446-Fam1PatV4 PubMed: Diggle 2016, Journal: Diggle 2016 Fam1PatV4 M yes Pakistan - >02y - - - 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) 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 - - - 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), 1 2 Pieter Klap
00065122 27058446-Fam2PatIV2 PubMed: Diggle 2016, Journal: Diggle 2016 Fam2PatIV2 M yes Finland - >09y - - - 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) 1 1 Pieter Klap
00065255 - PubMed: Niccolò 2016, Journal: Niccolò 2016 2 generation family, 1 affected, unaffected non-carrier parents M - - Dutch >11y - - - ADSD2 no developmental millestones (-HP:?), no cognition abnormality (HP:0100543), chorea (HP:0002072), bilateral striatal hyperintensities (HP:?), bilateral striatal swelling (HP:?), restriction of diffusion (HP:?), no bilateral striatal atrophy (-HP:?) 1 1 Jamie Zeegers
00065285 - PubMed: Niccolò 2016, Journal: Niccolò 2016 2 generation family, 1 affected, unaffected non-carrier parents F - - British >22y - - - ADSD2 no developmental millestones (-HP:?), no cognition abnormality (HP:0100543), chorea (HP:0002072), anxiety (HP:0000739), bilateral striatal hyperintensities (HP:?), no bilateral striatal swelling (-HP:?), no restriction of diffusion (-HP:?), bilateral striatal atrophy (HP:?) 1 1 Jamie Zeegers
00065286 - PubMed: Niccolò 2016, Journal: Niccolò 2016 2 generation family, 1 affected, unaffected non-carrier sibs, parents deceased F - - British >60y - - - ADSD2 no developmental millestones (-HP:?), no cognition abnormality (HP:0100543), chorea (HP:0002072), adult-onset parkinsonism (OMIM:612953), bilateral striatal hyperintensities (HP:?), no bilateral striatal swelling (-HP:?), bilateral striatal atrophy (HP:?) 1 1 Jamie Zeegers
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