- Congenital hip dislocation (HP:0001374). Evidence: PCS. (PMID:9732492)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: TAS. (OMIM:169550)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: TAS. (OMIM:169550)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. (OMIM:169550)
- Spina bifida occulta (HP:0003298): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: TAS. (OMIM:169550)
- Hypoplastic acetabulae (HP:0003274): Underdeveloped acetabulae. Evidence: TAS. (OMIM:169550)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: PCS. (PMID:9732492)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. (PMID:9732492)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. (OMIM:169550)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: TAS. (OMIM:169550)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. (PMID:9732492)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: PCS. (PMID:9732492)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: TAS. (OMIM:169550)
- 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:11146474)
- Optic disc coloboma (HP:0000588): A cleft of the optic nerve that extends inferiorly. Evidence: TAS. (OMIM:169550)
These phenotypes are associated with the disease pelvis-shoulder dysplasia (OMIM:169550).