- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2085)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2085)
- Sleep apnea (HP:0010535): An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2085)
These phenotypes are associated with the disease Glaucoma-sleep apnea syndrome (ORPHA:2085).