Arina Puzriakova Phenotypes for gene: NADK2 were changed from ?2,4-dienoyl-CoA reductase deficiency 616034 to 2,4-dienoyl-CoA reductase deficiency, OMIM:616034
Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 biallelic variants reported in 3 unrelated cases, with supportive functional studies.