Autosomal recessive deafness-23 (DFNB23) is caused by homozygous mutation in the gene encoding protocadherin-15 on chromosome 10q21. [From OMIM]
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
10q21.1
Autosomal recessive deafness-23 (DFNB23) is caused by homozygous mutation in the gene encoding protocadherin-15 on chromosome 10q21. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 609533.1 | United Arab Emirates | Female | Yes | Yes | Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment; Metopic synostosis; Global developmental delay  | NM_001142763.2:c.2376TGT[2] | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | Similarly affected s... |