Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_024729.3:c.1126G>T | 1 | NA | ||
NM_016239.4:c.1454T>C | 1 | NA | ||
NM_001354604.2:c.1031C>T | 1 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
600316.1.1 | Lebanon; Saudi Arabia | Postlingual sensorineural hearing impairment | Female | Yes | Yes | |
600316.1.2 | Lebanon; Saudi Arabia | Postlingual sensorineural hearing impairment | Female | Yes | Yes | |
600316.1.4 | Lebanon; Saudi Arabia | Female | Yes | Yes | Mother of the affected siblings |