QDPR
Deellabo: | PGD DNA |
Gen (Gen Code): | QDPR |
Aliases Gen: | DHPR, PKU2, SDR33C1 |
Gen ID (NCBI): | 5860 |
OMIM Gen ID: | 612676 |
Chromosomale locatie: | 4p15.31 |
Genetische aandoening / Analyse: | QDPR deficiëntie, hyperfenylalaninemie |
OMIM aandoening ID: | 261630 |
Overerving: | AR |
Aliases aandoening: | HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY DIHYDROPTERIDINE REDUCTASE DEFICIENCY DHPR DEFICIENCY QDPR DEFICIENCY |