Autosomal recessive deafness-28 (DFNB28) is caused by homozygous or compound heterozygous mutation in the TRIOBP gene (609761) on chromosome 22q13.
Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
22q13.1
Autosomal recessive deafness-28 (DFNB28) is caused by homozygous or compound heterozygous mutation in the TRIOBP gene (609761) on chromosome 22q13.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 609823.1 | United Arab Emirates | Unknown | Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment  | NM_001039141.3:c.3232del | Homozygous | Autosomal, Recessive | Elsayed O and Al-Shamsi A. 2022 | One individual repor... |