ELAC2, familial infantile hypertrophic cardiomyopathy; VLCAD, very long-chain acyl-CoA dehydrogenase; EFEMP2; familial aortic root aneurysm; 7q11.23, William's syndrome; KCNH2, long QT syndrome; NEXN, familial dilated cardiomyopathy; GAA, Pompe's disease; FBN1, Marfan syndrome; PTPN11, Noonan syndrome; ALMS1, Alstrom syndrome; MPS, mucopolysaccharidosis; DMD, Duchene muscular dystrophy; ACAD9, acyl Co-A dehydrogenase; CHR, chromosome; ENG, hereditary hemorrhagic telangiectasia; SLC22A5, carnitine deficiency; CHILD, congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The gene discussed is SLC22A5; the disease is hereditary hemorrhagic telangiectasia.