- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 0/1. (PMID:7264357)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: PCS. Frequency: 1/1. (PMID:7264357)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: TAS. (OMIM:278750)
- Squamous cell carcinoma (HP:0002860): The presence of squamous cell carcinoma of the skin. Evidence: PCS. Frequency: 4/10. (PMID:36308448)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. (OMIM:278750)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: PCS. Frequency: 2/10. (PMID:36308448)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:7264357)
- Cutaneous telangiectasia (HP:0034697): Dilated blood vessels on the skin. Evidence: PCS. Frequency: 1/1. (PMID:7264357)
- Cutaneous melanoma (HP:0012056): The presence of a melanoma of the skin. Evidence: PCS. Frequency: 0/10. (PMID:36308448)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: TAS. (OMIM:278750)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. (OMIM:278750)
- 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:10385124)
- Ectropion (HP:0000656): An outward turning (eversion) or rotation of the eyelid margin. Evidence: TAS. (OMIM:278750)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 0/1. (PMID:7264357)
- Poikiloderma (HP:0001029): Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. Evidence: TAS. (OMIM:278750)
- Entropion (HP:0000621): An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. Evidence: TAS. (OMIM:278750)
- Freckles in sun-exposed areas (HP:0007603). Evidence: PCS. Frequency: 10/10. (PMID:36308448)
These phenotypes are associated with the disease xeroderma pigmentosum variant type (OMIM:278750).