Phenotypes associated with the disease keratosis pilaris atrophicans (OMIM:604093):
- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:26142438)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: PCS. Frequency: 4/4. Onset: Childhood onset (HP:0011463). (PMID:26142438)
- 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: 4/4. (PMID:26142438)
- Abnormal perifollicular morphology (HP:0031285): Any structural anomaly in the areas surrounding the hair follicles. Evidence: PCS. (PMID:26142438)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 4/4. (PMID:26142438)
- 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:26142438)
- Comedo (HP:0025249): A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle). Evidence: PCS. Frequency: 4/4. (PMID:26142438)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: PCS. Frequency: 4/4. (PMID:26142438)
- Erythema (HP:0010783): Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 4/4. (PMID:26142438)
- Abnormality of vision (HP:0000504): Abnormality of eyesight (visual perception). Evidence: PCS. Frequency: 0/4. (PMID:26142438)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 4/4. Onset: Childhood onset (HP:0011463). (PMID:26142438)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/4. (PMID:26142438)