- Hypoplastic pelvis (HP:0008839): Underdevelopment of the bony pelvis. Evidence: PCS. Frequency: 3/3. (PMID:34433009)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: PCS. Frequency: 3/3. (PMID:34433009)
- 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: PCS. (PMID:34433009)
These phenotypes are associated with the disease Hypoplastic femurs and pelvis (OMIM:619545).