- Pili canaliculi (HP:0002235): A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy. Evidence: PCS. (PMID:27866708)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:27866708)
- Uncombable hair (HP:0030056): Hair that is disorderly, stands out from the scalp, and cannot be combed flat. Evidence: PCS. (PMID:27866708)
- 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:27866708)
- Dry hair (HP:0011359): Hair that lacks the luster (shine or gleam) of normal hair. Evidence: PCS. (PMID:27866708)
These phenotypes are associated with the disease uncombable hair syndrome 1 (OMIM:191480).