Autosomal recessive deafness-8 (DFNB8), also known as DFNB10, is caused by homozygous or compound heterozygous mutation in the TMPRSS3 gene on chromosome 21q22. [From OMIM]
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
21q22.3
Autosomal recessive deafness-8 (DFNB8), also known as DFNB10, is caused by homozygous or compound heterozygous mutation in the TMPRSS3 gene on chromosome 21q22. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 601072.G | United Arab Emirates | Unknown | Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment  | NM_001256317.3:c.800C>A | Homozygous | Autosomal, Recessive | Elsayed O and Al-Shamsi A. 2022 | Autosomal recessive |