All individuals with variants in gene GCH1

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     

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Owner     
00275587 - - - F - - - - 0 - - ? Dystonia (HP:0001332); Tremor (HP:0001337) 1 1 IMGAG
00295981 - - - F - - - - 0 - - ? Focal dystonia (HP:0004373) 1 1 Andreas Laner
00296565 - - - M - - - - 0 - - ? Dystonia (HP:0001332) 1 1 Andreas Laner
00324383 173171 - - F - Germany - - 0 - - DYT5 HPO´s: (+) Ataxia,(+) Dystonia,(+) Frequent falls,(+) Functional motor deficit,(+) Abnormality of coordination,(+) Abnormality of movement / clinically like segawa dystonia with varying response to L-dopa, predominantly ataxia and falls, clinically significant permanent loss of dopa response and significant ataxia, these and falls are prominent, no PNP, no clear cerebellar signs 1 1 Andreas Laner
00374607 S-1429 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
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