- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:30401459)
- Absent axillary hair (HP:0002221): Absence of axillary hair. Evidence: PCS. Frequency: 4/6. (PMID:30401459)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: PCS. Frequency: 2/6. (PMID:30401459)
- Short eyelashes (HP:0010764): Decreased length of the eyelashes (subjective). Evidence: PCS. Frequency: 2/6. (PMID:30401459)
- 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:30401459)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 6/6. (PMID:30401459)
- Sparse pubic hair (HP:0002225): Reduced number or density of pubic hair. Evidence: PCS. Frequency: 4/6. (PMID:30401459)
These phenotypes are associated with the disease hypotrichosis 14 (OMIM:618275).