- Second ray metatarsophalangeal synostosis (HP:0100483): Congenital fusion of the second metatarsal bone with the proximal phalanx of the second toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:488232)
- Split foot (HP:0001839): A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:488232)
- Bilateral sensorineural hearing impairment (HP:0008619): A form of sensorineural hearing impairment that affects both ears. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:488232)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:488232)
- 4-5 toe syndactyly (HP:0004692): Syndactyly with fusion of toes four and five. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:488232)
- 1-2 toe complete cutaneous syndactyly (HP:0005767). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:488232)
- Aplasia/Hypoplasia of the distal phalanx of the hallux (HP:0010076). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:488232)
- Mesoaxial foot polydactyly (HP:0010112): The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:488232)
- Aplasia/Hypoplasia of the phalanges of the 3rd toe (HP:0010359). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:488232)
- Aplasia/Hypoplasia of the phalanges of the 4th toe (HP:0010371). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:488232)
- Aplasia/Hypoplasia of the phalanges of the 5th toe (HP:0010383). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:488232)
- Aplasia/Hypoplasia of the distal phalanx of the 2nd toe (HP:0010413). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:488232)
- 1-2 toe syndactyly (HP:0010711): Syndactyly with fusion of toes one and two. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:488232)
These phenotypes are associated with the disease Split-foot malformation-mesoaxial polydactyly syndrome (ORPHA:488232).