- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/4. (PMID:18984066)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 9/46. (PMID:18984066)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: IEA. (OMIM:612843)
- Scarring alopecia of scalp (HP:0004552). Evidence: PCS. Frequency: 39/46. (PMID:18984066)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:612843)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: PCS. Frequency: 19/47. (PMID:18984066)
- 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: 21/47. (PMID:18984066)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 7/8. (PMID:18984066)
- Folliculitis (HP:0025084): Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. Evidence: PCS. Frequency: 17/47. (PMID:18984066)
- Keratosis pilaris (HP:0032152): An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. Evidence: PCS. Frequency: 45/47. (PMID:18984066)
- 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: 3/47. (PMID:18984066)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/4. (PMID:18984066)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. Frequency: 17/47. (PMID:18984066)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 9/46. (PMID:18984066)
- 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: 26/47. (PMID:18984066)
- Perifollicular fibrosis (HP:0030054): Presence of excess fibrous connective tissue surrounding hair follicules. Evidence: TAS. (OMIM:612843)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 42/47. (PMID:18984066)
- 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: 15/46. (PMID:18984066)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 8/47. (PMID:18984066)
- Blepharitis (HP:0000498): Inflammation of the eyelids. Evidence: PCS. Frequency: 17/47. (PMID:18984066)
- 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:18984066)
These phenotypes are associated with the disease keratosis follicularis spinulosa decalvans, autosomal dominant (OMIM:612843).