Phenotypes associated with the disease Isolated arrhinia (ORPHA:1134):
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1134)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1134)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1134)
- Eyelid coloboma (HP:0000625): A short discontinuity of the margin of the lower or upper eyelid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1134)
- Tessier cleft (HP:0002006): A congenital malformation with a cleft (gap or opening) in the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1134)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1134)
- Midline defect of the nose (HP:0004122): This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1134)
- Hypoplasia of the nasal bone (HP:0004646): Underdevelopment of the nasal bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1134)
- Absent nasal septal cartilage (HP:0005273): Lack of the cartilage of the nasal septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1134)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1134)
- Aplasia/Hypoplasia of the nasal septum (HP:0009935): Absence or underdevelopment of the nasal septum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1134)
- Aplasia of the nose (HP:0009927): Complete absence of all nasal structures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1134)