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OMIM ID
261630
OMIM term:
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C
Alternative terms:
HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY
DIHYDROPTERIDINE REDUCTASE DEFICIENCY
DHPR DEFICIENCY
QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY
QDPR DEFICIENCY
(∗) Location:
4p15.32
(†) Associated OMIM genes:
QDPR
(‡) Associated MGI genes:
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