immunodeficiency 80 with or without congenital cardiomyopathy
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.
MONDO:0021094
immunodeficiency disease
is_a
IMD80
exact
MCM10 deficiency
exact
immunodeficiency 80 with or without cardiomyopathy
exact
immunodeficiency 80 with or without congenital cardiomyopathy
exact
immunodeficiency with or without congenital cardiomyopathy
exact
SPBC1347.10