Phenotypes associated with the disease ulnar agenesis and endocardial fibroelastosis (OMIM:276822):
- Aplasia of the ulna (HP:0003982): Missing ulna bone associated with congenital failure of development. Evidence: TAS. (OMIM:276822)
- Endocardial fibroelastosis (HP:0001706): Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction. Evidence: IEA. (OMIM:276822)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: IEA. (OMIM:276822)
- 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: TAS. (OMIM:276822)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: IEA. (OMIM:276822)
- Finger aplasia (HP:0009380): A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). Evidence: IEA. (OMIM:276822)