- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: IEA. (OMIM:138930)
- Blue sclerae (HP:0000592): An abnormal bluish coloration of the sclera. Evidence: IEA. (OMIM:138930)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: IEA. (OMIM:138930)
- Down-sloping shoulders (HP:0200021): Low set, steeply sloping shoulders. Evidence: IEA. (OMIM:138930)
- 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:138930)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:138930)
These phenotypes are associated with the disease Grant syndrome (OMIM:138930).