immunodeficiency 80 with or without congenital cardiomyopathy
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
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
SPBC1347.10