Phenotypes associated with the disease hypotrichosis 11 (OMIM:615059):
- Alopecia universalis (HP:0002289): Loss of all hair on the entire body. Evidence: PCS. Frequency: 2/8. Onset: Congenital onset (HP:0003577). (PMID:9621144)
- Absent axillary hair (HP:0002221): Absence of axillary hair. Evidence: PCS. (PMID:9621144)
- Aplasia/Hypoplasia of the eyebrow (HP:0100840): Absence or underdevelopment of the eyebrow. Evidence: PCS. (PMID:9621144)
- Sparse or absent eyelashes (HP:0200102). Evidence: PCS. (PMID:9621144)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:9621144)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 8/8. (PMID:9621144)