- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:247430)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: IEA. (OMIM:247430)
- 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:247430)
These phenotypes are associated with the disease chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation (OMIM:247430).