Phenotypes associated with the disease superior transverse scapular ligament, calcification of, familial (OMIM:601708):
- Ectopic ossification in ligament tissue (HP:0011989): Formation of abnormal bony tissue within ligament tissue. Evidence: TAS. (OMIM:601708)
- 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:601708)
- Entrapment neuropathy of suprascapular nerve (HP:0012216): An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region. Evidence: TAS. (OMIM:601708)