Phenotypes associated with the disease congenitally short costocoracoid ligament (OMIM:122580):
- Abnormal scapula morphology (HP:0000782): Any abnormality of the scapula, also known as the shoulder blade. Evidence: IEA. (OMIM:122580)
- Down-sloping shoulders (HP:0200021): Low set, steeply sloping shoulders. Evidence: IEA. (OMIM:122580)
- 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: IEA. (OMIM:122580)
- Abnormality of the shoulder girdle musculature (HP:0001435): A structural or functional anomaly of the shoulder girdle, which which connects the upper limb to the axial skeleton via the sternoclavicular joint. Evidence: IEA. (OMIM:122580)