Ellen McDonagh Added comment: Comment on phenotypes: Now in OMIM associated with the phenotype Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.
Ellen McDonagh Phenotypes for gene: SLC25A42 were changed from mitochondrial myopathy to mitochondrial myopathy; Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416
Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. However, a founder variant has been reported in Arab populations (rs864321624), together with supportive functional studies. A rare additional variant has also been reported as a compound heterozygous with the founder variant.