Diseases of the ear and mastoid process
Other disorders of ear
Autosomal recessive
3q13.33
Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. Autosomal recessive deafness-42 (DFNB42) is caused by homozygous mutation in the ILDR1 gene on chromosome 3q13.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 609646.G.1.1 | United Arab Emirates | Female | Yes | Yes | Sensorineural hearing impairment Sensorineural hearing impairment  | NM_001199799.1:c.804del | Homozygous | Autosomal, Recessive | Tlili et al. 2017 | 5 affected siblings |