Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
Summary Literature (0)
MIM:261640 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

Echinobase Genes: pts

Human Disease Resource: OMIM


Disease Ontology (DO):
DOID:0090106 - Bh4-deficient hyperphenylalaninemia A