Disease association ontology term - MONDO:0030266 - immunodeficiency 80 with or without congenital cardiomyopathy
Term summary
- ID
- MONDO:0030266
- Name
- immunodeficiency 80 with or without congenital cardiomyopathy
- Ontology or CV name
- Disease association
- Definition
- 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.
