Gene List:
DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SPR

References:
Anikster Y, et al. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. Am J Hum Genet. 2017 Feb 2;100(2):257-266.

Camp KM, et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun;112(2):87-122.

Leuzzi V, et al. Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clin Genet. 2010 Mar;77(3):249-57.