Autosomal recessive deafness-28 (DFNB28) is caused by homozygous or compound heterozygous mutation in the TRIOBP gene on chromosome 22q13. [From OMIM]
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 on chromosome 22q13. [From OMIM]
| 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... | ||
| 609823.2 | United Arab Emirates | Unknown | Hearing impairment Hearing impairment | NM_001039141.3:c.3133C>T | Homozygous | Tlili et al. 2024 | ||||
| 609823.3 | United Arab Emirates | Unknown | Hearing impairment Hearing impairment | NM_001039141.3:c.3068C>T | Heterozygous | Tlili et al. 2024 | ||||
| 609823.G | United Arab Emirates | Unknown | Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment | NM_001039141.3:c.2758C>T | Homozygous | Autosomal, Recessive | Elsayed O and Al-Shamsi A. 2022 | Two individuals repo... |