All individuals with variants in gene TOR1A

20 entries on 1 page. Showing entries 1 - 20.
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00016401 - - - - - Germany - - - - - DYT - 1 1 Philip Seibler
00016402 - - - - - Germany - - - - - DYT - 1 1 Philip Seibler
00016414 - PubMed: Ozelius 1997 patients from several different families - - - - - - - - DYT1 highly variable phenotype, reduced penetrance 1 4 Johan den Dunnen
00016415 - PubMed: Zirn 2008 2-generation family, unaffected carrier mother (reduced penetrance) F no Germany - >18y - - - DYT1 see paper 1 2 Johan den Dunnen
00016416 - PubMed: Lueng 2001 - F no Puerto Rico - - - - - Healthy/Control - 1 1 Johan den Dunnen
00016417 - PubMed: Lueng 2001 - M no Puerto Rico - - - - - DYT1 see paper 1 1 Johan den Dunnen
00016418 - PubMed: Lueng 2001, PubMed: Klein 2002, PubMed: Doheny 2002 3-generation, 4 affected carriers (2M, 2F), variable phenotype, SGCE:c.587T>G variant as well F no Italy;Lithuania;Poland - - - - - DYT1 see paper 1 4 Johan den Dunnen
00016419 - PubMed: Kabakci 2004 putatively healthy blood donor ? ? Austria Tirol, south - - - - Healthy/Control - 1 1 Johan den Dunnen
00016420 - PubMed: Calakos 2010 - M - United States - - - - - DYT1 see paper, late-onset focal torsion dystonia 1 1 Johan den Dunnen
00016421 - PubMed: Kamm 2008 24 asymptomatic delGAG carriers - - - - - - - - Healthy/Control - 2 6 Johan den Dunnen
00230578 - - - - - - - - - - - DYT - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00294758 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00310675 - PubMed: Retterer 2016 - - - United States - - - - - NDD see paper; ..., microcephaly, autism, dystonia, developmental delay 1 1 Johan den Dunnen
00332130 - - - M - - - - - - - ? Dystonia (HP:0001332); Generalized dystonia (HP:0007325) 1 1 IMGAG
00419512 20065 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00455865 Pat105 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00460015 patient PubMed: Filippi 2024 2-generation family, 1 affected, unaffected non carrier father F - Italy - - - - - MITCH see paper; ..., ,progressive sensorineural deafness visual abnormalities, skin ichthyosis; infantile age gait ataxia, progressive worsening, 10y-loss of walking 1 1 Johan den Dunnen
00471263 IS-DYS-007 PubMed: Zech 2017, PubMed: Zech 2020 2-generation family, affected, affected carrier parent - - - - - - - - DYT isolated dystonia; onset adolescence (13-20y); generalized dystonia; no dystonic cerebral palsy 1 2 Johan den Dunnen
00471264 IS-DYS-285 PubMed: Zech 2020 2-generation family, affected, unaffected carrier parent - - - - - - - - DYT isolated dystonia; onset adulthood (after 20y); focal dystonia; no dystonic cerebral palsy 1 2 Johan den Dunnen
00471265 IS-DYS-373 PubMed: Zech 2020 patient - - - - - - - - DYT isolated dystonia; onset adolescence (13-20y); generalized dystonia; no dystonic cerebral palsy 1 1 Johan den Dunnen
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