- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 5/5. (PMID:26755636)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 4/5. (PMID:26755636)
- 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: PCS. Frequency: 4/5. (PMID:26755636)
- 4-5 toe syndactyly (HP:0004692): Syndactyly with fusion of toes four and five. Evidence: PCS. Frequency: 1/5. (PMID:26755636)
- 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:26755636)
- Split hand (HP:0001171): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: PCS. Frequency: 5/5. (PMID:26755636)
- Mesoaxial hand polydactyly (HP:0006159): The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. Evidence: PCS. (PMID:26755636)
- 1-2 toe syndactyly (HP:0010711): Syndactyly with fusion of toes one and two. Evidence: PCS. Frequency: 1/5. (PMID:26755636)
These phenotypes are associated with the disease split-foot malformation-mesoaxial polydactyly syndrome (OMIM:616890).