Phenotypes associated with the disease female infertility due to zona pellucida defect (OMIM:615774):
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 4/4. (PMID:24670168)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/4. (PMID:24670168)
- 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: PCS. (PMID:24670168)
- Absent zona pellucida (HP:6000328): Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments). Evidence: PCS. Frequency: 2/2. (PMID:24670168)