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OMIM ID
261640
OMIM term:
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A
Alternative terms:
HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTS DEFICIENCY
6-@PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY
PTS DEFICIENCY HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY, INCLUDED
(∗) Location:
11q23.1
(†) Associated OMIM genes:
PTS
(‡) Associated MGI genes:
Pts
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