Phenotypes associated with the disease wooly hair, autosomal recessive 3 (OMIM:616760):
- Curly hair (HP:0002212). Evidence: PCS. (PMID:26160856)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: TAS. (OMIM:616760)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. (PMID:26160856)
- 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:26160856)
- Trichorrhexis nodosa (HP:0009886): Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. Evidence: PCS. (PMID:26902920)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. (PMID:26160856)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. (PMID:26902920)