DFNB84B is an autosomal recessive condition characterised by congenital nonprogressive sensorineural hearing loss affecting both ears. It is caused by mutations in OTOGL, a gene expressed in the inner ear.
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
12q21.31
DFNB84B is an autosomal recessive condition characterised by congenital nonprogressive sensorineural hearing loss affecting both ears. It is caused by mutations in OTOGL, a gene expressed in the inner ear.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614944.1.1 | Syria | Female | Yes | No | Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment  | NM_173591.3:c.2773C>T | Homozygous | Autosomal, Recessive | Barake et al, 2017 | Proband |
| 614944.1.2 | Syria | Female | Yes | No | Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment | NM_173591.3:c.2773C>T | Homozygous | Autosomal, Recessive | Barake et al, 2017 | Sister of 614944.1.1 |
| 614944.1.3 | Syria | Female | Yes | No | Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment | NM_173591.3:c.2773C>T | Homozygous | Autosomal, Recessive | Barake et al, 2017 | Sister of 614944.1.1 |
| 614944.1.4 | Syria | Female | Yes | No | Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment | NM_173591.3:c.2773C>T | Homozygous | Autosomal, Recessive | Barake et al, 2017 | Sister of 614944.1.1 |
| 614944.1.5 | Syria | Male | Yes | No | Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment | NM_173591.3:c.2773C>T | Homozygous | Autosomal, Recessive | Barake et al, 2017 | Brother of 614944.1.... |