- 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: 2/2. (PMID:31484767)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593). (PMID:31484767)
- Laryngeal papilloma (HP:0033001): A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx. Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593). (PMID:31484767)
- 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:31484767)
- Atrophodermia vermiculata (HP:0100837): Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions. Evidence: PCS. Frequency: 2/2. (PMID:31484767)
These phenotypes are associated with the disease respiratory papillomatosis, juvenile recurrent, congenital (OMIM:618803).