- OMIM ID
-
233910
- OMIM term:
- HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B
- Alternative terms:
-
HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO GTP CYCLOHYDROLASE I DEFICIENCY
GTP CYCLOHYDROLASE I DEFICIENCY DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDED
- (∗) Location:
- 14q22.2
- (†) Associated OMIM genes:
- GCH1
- (‡) Associated MGI genes:
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