- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 4/12. (PMID:32497488)
- Posterior blepharitis (HP:0025610): A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. Evidence: PCS. Frequency: 8/12. (PMID:32497488)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: PCS. Frequency: 4/12. (PMID:32497488)
- Keratoconjunctivitis sicca (HP:0001097): Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. Evidence: PCS. Frequency: 1/12. (PMID:32497488)
- Angular cheilitis (HP:0030318): A type of inflammation of the lips involving one or both of the corners of the mouth. Evidence: PCS. Frequency: 2/12. (PMID:32497488)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: IEA. Frequency: 6/12. (PMID:32497488)
- Perioral erythema (HP:0033194): Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth. Evidence: PCS. Frequency: 2/12. (PMID:32497488)
- Ichthyosis follicularis (HP:0031291): Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. Evidence: PCS. Frequency: 10/12. (PMID:32497488)
- Atrichia (HP:0500262): The most dramatic and severe form of hair loss characterized by an absence of hair follicles. Evidence: PCS. Frequency: 5/12. (PMID:32497488)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 4/12. (PMID:32497488)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 10/12. (PMID:32497488)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 1/12. (PMID:32497488)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:32497488)
These phenotypes are associated with the disease IFAP syndrome 2 (OMIM:619016).