Disease Summary help help Associated Targets (1)Tbio1 Explore Associated Targets list Uniprot Description A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. Mondo Term and Equivalent IDs MONDO:0013549: N-acetylaspartate deficiency OMIM:614063: N-ACETYLASPARTATE DEFICIENCYopen_in_newUMLS:C3279716: open_in_new