- Type E brachydactyly (HP:0005863): In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. Evidence: TAS. (OMIM:113301)
- 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: IEA. (OMIM:113301)
- Short 4th metacarpal (HP:0010044): Short fourth metacarpal bone. Evidence: IEA. (OMIM:113301)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: IEA. (OMIM:113301)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: IEA. (OMIM:113301)
- 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:113301)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: IEA. (OMIM:113301)
These phenotypes are associated with the disease brachydactyly, type E, with atrial septal defect, type 2 (OMIM:113301).