DFNB79 is associated with homozygous mutation in the TPRN gene. It is characterised by prelingual sensorineural hearing loss and speech delay.
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
9q34.3
DFNB79 is associated with homozygous mutation in the TPRN gene. It is characterised by prelingual sensorineural hearing loss and speech delay.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613307.1 | United Arab Emirates | Unknown | Hearing impairment Hearing impairment  | NM_001128228.3:c.117del | Heterozygous | Tlili et al. 2024 |