DFNB18A is associated with homozygous mutation in USH1C gene. Mutations in the same gene is also linked with Usher syndrome type 1C.
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
11p15.1
DFNB18A is associated with homozygous mutation in USH1C gene. Mutations in the same gene is also linked with Usher syndrome type 1C.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 602092.1 | United Arab Emirates | Unknown | Hearing impairment Hearing impairment  | NM_153676.4:c.1597G>A | Heterozygous | Tlili et al. 2024 |