- Progressive sensorineural hearing impairment (HP:0000408): A progressive form of sensorineural hearing impairment. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:494444)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:494444)
- Increased mean platelet volume (HP:0011877): Average platelet volume above the upper limit of the normal reference interval. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:494444)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:494444)
- Iron deficiency anemia (HP:0001891). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:494444)
- Enamel hypomineralization (HP:0006285): A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:494444)
These phenotypes are associated with the disease DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (ORPHA:494444).