Phenotypes associated with the disease Rare non-syndromic genetic deafness (ORPHA:87884):
- Prelingual sensorineural hearing impairment (HP:0000399): A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87884)
- Progressive sensorineural hearing impairment (HP:0000408): A progressive form of sensorineural hearing impairment. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87884)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87884)
- Abnormal speech discrimination (HP:0001963): A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87884)
- Postlingual sensorineural hearing impairment (HP:0008596): A form of sensorineural hearing impairment with onset after the acquisition of speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87884)
- Profound sensorineural hearing impairment (HP:0011476): Complete loss of hearing related to a sensorineural defect. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:87884)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87884)
- High-frequency hearing impairment (HP:0005101): A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87884)
- Abnormal vestibulo-ocular reflex (HP:0007670): An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87884)
- Childhood onset sensorineural hearing impairment (HP:0011474): Sensorineural hearing impairment with childhood onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87884)
- Moderate hearing impairment (HP:0012713): The presence of a moderate form of hearing impairment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87884)
- Severe hearing impairment (HP:0012714): A severe form of hearing impairment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:87884)
- Low-frequency sensorineural hearing impairment (HP:0008573): A form of sensorineural hearing impairment that affects primarily the lower frequencies. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:87884)