- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/3. (PMID:25918342)
- Candida esophagitis (HP:0033351): Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. Evidence: PCS. Frequency: 1/3. (PMID:25918342)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: PCS. Frequency: 3/3. (PMID:25918342)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/3. (PMID:25918342)
- 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:25918342)
- Unusual fungal nail infection (HP:0012203): Increased susceptibility to fungal infection of the nail apparatus (onychomycosis), as manifested by recurrent or severe infection of the nail plate, nail bed, or nail matrix caused by fungal organisms. Causative agents include dermatophytes (Trichophyton species) and Candida species. Evidence: PCS. Frequency: 1/3. (PMID:25918342)
- Recurrent aphthous stomatitis (HP:0011107): Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Evidence: PCS. Frequency: 1/3. (PMID:25918342)
These phenotypes are associated with the disease candidiasis, familial, 9 (OMIM:616445).