DFNB31 is characterised by isolated or nonsyndromic hearing loss. It is associated with homozygous mutation in WHRN gene.
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
9q32
DFNB31 is characterised by isolated or nonsyndromic hearing loss. It is associated with homozygous mutation in WHRN gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 607084.1 | Saudi Arabia | Female | Yes | Hearing impairment Hearing impairment  | NM_015404.4:c.2140C>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 |