- OMIM ID
-
264070
- OMIM term:
- HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D; HPABH4D
- Alternative terms:
-
HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY
HYPERPHENYLALANINEMIA WITH PRIMAPTERINURIA
CADH DEFICIENCY
PCBD DEFICIENCY
- (∗) Location:
- 10q22.1
- (†) Associated OMIM genes:
- PCBD1
- (‡) Associated MGI genes:
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