- Facial telangiectasia (HP:0007380): Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. Evidence: IEA. (OMIM:180730)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: PCS. (OMIM:180730)
- Abnormal eyelash morphology (HP:0000499): An abnormality of the eyelashes. Evidence: PCS. (OMIM:180730)
- 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: IEA. (OMIM:180730)
- Abnormal eyebrow morphology (HP:0000534): An abnormality of the eyebrow. Evidence: PCS. (OMIM:180730)
These phenotypes are associated with the disease Rombo syndrome (OMIM:180730).