Disease #01296 (DYT5 (dystonia, type 5, dopa-responsive type (DYT-5)), OMIM:128230)

Official abbreviation DYT5
Name dystonia, type 5, dopa-responsive type (DYT-5)
OMIM ID 128230
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene GCH1
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00054876 - - - - - - - - 0 - - DYT5 pure HSP TH TH 1 1 Erik-Jan Kamsteeg
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 GCH1 GCH1 1 1 Andreas Laner
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