Phenotypes associated with the disease pregnancy loss, recurrent, susceptibility to, 1 (OMIM:614389):
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: TAS. (OMIM:614389)
- Recurrent spontaneous abortion (HP:0200067): Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. Evidence: TAS. (OMIM:614389)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:614389)