- Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161): Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. Evidence: TAS. (OMIM:609432)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:25466284)
- Proximal fifth finger symphalangism (HP:0009177): Fusion of the proximal and middle phalanges of the 5th finger. Evidence: IEA. (OMIM:609432)
- Aplasia/Hypoplasia of the hallux (HP:0008362): Absence or underdevelopment of the big toe. Evidence: IEA. (OMIM:609432)
- 3-4 finger osseus syndactyly (HP:0006097): Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones. Evidence: PCS. (PMID:25466284)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: TAS. (OMIM:609432)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:25466284)
- Aplasia/Hypoplasia of the thumb (HP:0009601): Hypoplastic/small or absent thumb. Evidence: TAS. (OMIM:609432)
- Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568). Evidence: TAS. (OMIM:609432)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. (OMIM:609432)
- Hallux symphalangism (HP:0010091). Evidence: TAS. (OMIM:609432)
These phenotypes are associated with the disease mesoaxial synostotic syndactyly with phalangeal reduction (OMIM:609432).