Disorders
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
Synonym(s): Autosomal Dominant Dopa-Responsive Dystonia, Autosomal Dominant Segawa Syndrome, DYT5, GTP Cyclohydrolase 1 Deficient DRD, GTP Cyclohydrolase 1-Deficient DRD, GTPCH 1 Deficient DRD, GTPCH 1-Deficient DRD, Hereditary Progressive Dystonia with Marked Diurnal Fluctuation
| Gene | Locus | Protein |
|---|---|---|
| GCH1 | 14q22.1-q22.2 | GTP cyclohydrolase 1 |
For tests, please check "Related Disorders" when present.