- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 1/3. (PMID:24145306)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/3. (PMID:24145306)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:24145306)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 1/3. (PMID:24145306)
- Occipital horn (HP:0034975): Downward pointing exostoses of the occipital bone situated in the tendinous insertions of the sternocleidomastoid and trapezius muscles. Evidence: PCS. Frequency: 2/3. (PMID:24145306)
- Calvarial hyperostosis (HP:0004490): Excessive growth of the calvaria. Evidence: PCS. Frequency: 3/3. (PMID:24145306)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 1/3. (PMID:24145306)
These phenotypes are associated with the disease X-linked calvarial hyperostosis (OMIM:302030).