has material basis in germline mutation in FNIP1 immunodeficiency disease immunodeficiency 93 and hypertrophic cardiomyopathy https://github.com/monarch-initiative/mondo/issues/10250 https://github.com/monarch-initiative/mondo/issues/5261 https://www.malacards.org/card/immunodeficiency_93_and_hypertrophic_cardiomyopathy 2026-08-01 An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Immunologic workup typically shows decreased circulating B cells and hypo- or agammaglobulinemia, sometimes with neutropenia or T-cell lymphocytosis, although laboratory findings may be variable among patients. Ig replacement therapy is beneficial. Cardiac involvement can also include atrial septal defect, valvular insufficiency, and pre-excitation syndrome. Rare myopathic or neurologic involvement has been reported, but these features are not consistently part of the disorder and may be related to other genetic defects. OMIM:619705 This term is scheduled to be merged with MONDO:0100432 FNIP1-associated syndrome', based on the fact that the concept of these 2 terms are the same. This ID will therefore be obsoleted and replaced with MONDO:0100432 DOID:0061063 immunodeficiency and hypertrophic cardiomyopathy UMLS:C5676899 IMD93 MEDGEN:1804175 Orphanet:693647 MONDO:0030528