Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_194248.2:c.4491T>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601071.2.1 | Lebanon | Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | Female | Yes | Yes | |
| 601071.2.3 | Lebanon | Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | Male | Yes | Yes | Sibling of 601071.2.1 |