has material basis in germline mutation in DNAJC12 inborn disorder of amino acid metabolism autosomal recessive disease phenylketonuria hyperphenylalaninemia due to DNAJC12 deficiency https://github.com/monarch-initiative/mondo/issues/6750 https://github.com/monarch-initiative/mondo/issues/6752 https://www.malacards.org/card/hyperphenylalaninemia_due_to_dnajc12_deficiency https://www.malacards.org/card/hyperphenylalaninemia_mild_non_bh4_deficient Orphanet:508523 GARD:0017950 MONDO:0044304 MEDGEN:1391882 HPANBH4 hyperphenylalaninemia due to DNAJC12 deficiency UMLS:C4479270 Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}). OMIM:617384