- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:212400)
- Congenital ichthyosiform erythroderma (HP:0007431): An ichthyosiform abnormality of the skin with congenital onset. Evidence: IEA. (OMIM:212400)
- 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:212400)
These phenotypes are associated with the disease congenital cataract-ichthyosis syndrome (OMIM:212400).