- Restrictive external ophthalmoplegia (HP:0007936): Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. Evidence: TAS. (OMIM:609428)
- Congenital fibrosis of extraocular muscles (HP:0001491): Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. Evidence: IEA. (OMIM:609428)
- Carpal bone aplasia (HP:0004231): Congenital absence of a carpal bone. Evidence: IEA. (OMIM:609428)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. (OMIM:609428)
- Postaxial oligodactyly (HP:0006210). Evidence: TAS. (OMIM:609428)
- 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: IEA. (OMIM:609428)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: IEA. (OMIM:609428)
- Nonprogressive restrictive external ophthalmoplegia (HP:0007831): Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. Evidence: IEA. (OMIM:609428)
- Carpal synostosis (HP:0009702): Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). Evidence: IEA. (OMIM:609428)
- Compensatory chin elevation (HP:0001477): A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. Evidence: IEA. (OMIM:609428)
These phenotypes are associated with the disease Tukel syndrome (OMIM:609428).