More recently, we and others identified biallelic loss-of-function variants in the ITPA gene leading to complete loss of or severely reduced levels of ITPase, causing a fatal infantile multisystem disorder characterized by epileptic encephalopathy, microcephaly and dilated cardiomyopathy (12,13) (MIM 616647). The gene discussed is ITPA; the disease is dilated cardiomyopathy.