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Article

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.

European journal of human genetics : EJHG - 1 Dec 2018

Veenma Danielle, Cordeiro Dawn, Sondheimer Neal, Mercimek-Andrews Saadet

Abstract excerpt

Hyperphenylalaninemia, movement disorder, and intellectual disability due to variants in DNAJC12 is a recently reported inherited neurotransmitter disorder. We report two new patients with this new genetic disorder. Patient 1 is a 6-year-11-month-old boy with mild hyperphenylalaninemia and global developmental delay (GDD). Seventeen-year-old male sibling of patient 1 had GDD from the first year of life. He had...

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Identifiers

PMID: 30139987
DOI: 10.1038/s41431-018-0237-9
PMCID: PMC6244406

Genes

DNAJC12

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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