See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.
Biallelic loss of function mutations in ACAD8 result in autosomal recessive isobutyryl-CoA dehydrogenase deficiency. See PMIDs: 24635911, 20836999, 17924841, 17304052, 16857760, 15505379.