- Cranial nerve paralysis (HP:0006824). Evidence: PCS. (PMID:5694533)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. (PMID:5694533)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. (PMID:5694533)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: PCS. (PMID:5694533)
- Abnormality of the lower limb (HP:0002814): An abnormality of the leg. Evidence: PCS. (PMID:5694533)
- 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:5694533)
- Duplication involving bones of the feet (HP:0009136). Evidence: PCS. (PMID:5694533)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. (PMID:5694533)
- Optic nerve dysplasia (HP:0001093): The presence of developmental dysplasia of the optic nerve. Evidence: PCS. (PMID:5694533)
- Spondyloepiphyseal dysplasia (HP:0002655): A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). Evidence: PCS. (PMID:5694533)
- Progressive cataract (HP:0007834): A kind of cataract that progresses with age. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:5694533)
These phenotypes are associated with the disease absence deformity of leg-cataract syndrome (OMIM:246000).