label: Mild Non-BH4-Deficient Hyperphenylalaninemia
label_lc: mild non-bh4-deficient hyperphenylalaninemia
description: "An autosomal recessive condition caused by mutation(s) in the DNAJC12 gene, encoding dnaJ homolog subfamily C member 12. It is characterized by increased serum phenylalanine concentrations resulting in variable neurologic defects, including movement defects and intellectual disability. BH4 metabolism is normal."