- Supernumerary naris (HP:0009934): The presence of more than two nostrils. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:141096)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141096)
- Tessier cleft (HP:0002006): A congenital malformation with a cleft (gap or opening) in the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141096)
- Choanal atresia (HP:0000453): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:141096)
- Microcornea (HP:0000482): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:141096)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:141096)
- Abnormality of ethmoid sinus (HP:3000040): An abnormality of an ethmoid sinus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:141096)
These phenotypes are associated with the disease Supernumerary nostril (ORPHA:141096).