- Type A brachydactyly (HP:0009370). Evidence: TAS. (OMIM:112800)
- Congenital talipes calcaneovalgus (HP:0005850). Evidence: TAS. (OMIM:112800)
- Short middle phalanx of the 5th finger (HP:0004220): Hypoplastic/small middle phalanx of the fifth finger. Evidence: TAS. (OMIM:112800)
- Short middle phalanx of the 2nd finger (HP:0009577): Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. Evidence: TAS. (OMIM:112800)
- Aplasia of the middle phalanges of the toes (HP:0100387). Evidence: TAS. (OMIM:112800)
- Talipes calcaneovalgus (HP:0001884): Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. Evidence: TAS. Onset: Congenital onset (HP:0003577). (OMIM:112800)
- 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:112800)
These phenotypes are associated with the disease brachydactyly type A4 (OMIM:112800).