label: immunodeficiency 80 with or without congenital cardiomyopathy
label_lc: immunodeficiency 80 with or without congenital cardiomyopathy
description: "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."