This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset. [From OMIM]
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
19p13.3
This form of autosomal recessive deafness is sensorineural and nonsyndromic, and shows prelingual onset. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 601869.1.1 | Saudi Arabia | Female | No | Yes | Bilateral sensorineural hearing impairme... Bilateral sensorineural hearing impairment  | NM_133261.3:c.122C>A | Homozygous | Autosomal, Recessive | Almontashiri et al. 2018 | Proband from "family... |