GCH

Deellabo: PGD DNA
Gen (Gen Code): GCH
Aliases Gen: GCH; DYT5; DYT14; DYT5a; GTPCH1; HPABH4B; GTP-CH-1
Gen ID (NCBI): 2643
OMIM Gen ID: 600225
Chromosomale locatie: 14q22.1-q22.2
Genetische aandoening / Analyse: Dopa responsieve dystonie (DRD) / Segawa syndroom
OMIM aandoening ID: 128230
Overerving: AD
Aliases aandoening: DYSTONIA, DOPA-RESPONSIVE; DRD
DYSTONIA 5; DYT5
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION
DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION
SEGAWA SYNDROME, AUTOSOMAL DOMINANT
DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT
DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT

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