- Moderately short stature (HP:0008848): A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. Evidence: IEA. (OMIM:113300)
- Type E brachydactyly (HP:0005863): In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. Evidence: TAS. (OMIM:113300)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: IEA. (OMIM:113300)
- Multiple impacted teeth (HP:0001571): The presence of multiple impacted teeth. Evidence: IEA. (OMIM:113300)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: IEA. (OMIM:113300)
- Straight clavicle (HP:0006587): An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . Evidence: TAS. (OMIM:113300)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: IEA. (OMIM:113300)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: TAS. (OMIM:113300)
- 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:113300)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: IEA. (OMIM:113300)
These phenotypes are associated with the disease brachydactyly type E1 (OMIM:113300).