- Coarctation of abdominal aorta (HP:0004974): Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta. Evidence: IEA. (OMIM:226100)
- Endocardial fibroelastosis (HP:0001706): Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction. Evidence: IEA. (OMIM:226100)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:226100)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: IEA. (OMIM:226100)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: IEA. (OMIM:226100)
These phenotypes are associated with the disease endocardial fibroelastosis and coarctation of abdominal aorta (OMIM:226100).