- Stomatitis (HP:0010280): Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. Evidence: PCS. Frequency: 1/2. (PMID:22850876)
- Facial erythema (HP:0001041): Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 1/2. (PMID:22850876)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/2. (PMID:22850876)
- Emphysema (HP:0002097). Evidence: PCS. Frequency: 1/2. (PMID:22850876)
- 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:22850876)
- Disseminated cutaneous warts (HP:0032215): Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities. Evidence: PCS. Frequency: 2/2. (PMID:22850876)
- Burkitt lymphoma (HP:0030080): A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. Evidence: PCS. Frequency: 1/2. (PMID:22850876)
- Increased exhausted T cell proportion (HP:0031514): An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells. Evidence: PCS. Frequency: 2/2. (PMID:22850876)
These phenotypes are associated with the disease epidermodysplasia verruciformis, susceptibility to, 4 (OMIM:618307).