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 |