An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported. The disease is Monarch Disease Ontology id MONDO_0030266 (immunodeficiency 80 with or without congenital cardiomyopathy). Also known as: IMD80, MCM10 deficiency, immunodeficiency 80 with or without cardiomyopathy, immunodeficiency with or without congenital cardiomyopathy.