ABCC9 and intellectual disability and myopathy syndrome: ABCC9-related intellectual disability and myopathy syndrome (AIMS; OMIM #619719) was recently identified in six individuals, from two families, who were all homozygous for the same loss-of-function (LoF) splice-site variant in ABCC9 (NM_005691:c.1320+1G>A).1ABCC9 encodes the SUR2 (sulfonylurea receptor 2) subunit of ATP-sensitive potassium (KATP) channels, which are widely expressed throughout the body.