Female
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 |
|---|---|---|---|---|---|---|
| 601071.1.1 | Lebanon | Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | Male | Yes | Yes | |
| 601071.1.2 | Lebanon | Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | Female | Yes | Yes | Sibling of 601071.1.1 |
| 601071.1.4 | Lebanon | Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | Female | Yes | Yes | Sibling of 601071.1.1 |
| 601071.1.5 | Lebanon | Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | Female | Yes | Yes | Second cousin of 601071.1.1 |
| 601071.1.6 | Lebanon | Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | Female | Yes | Yes | First cousin of 601071.1.5 |
| 601071.1.7 | Lebanon | Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | Male | Yes | Yes | Sibling of 601071.1.16 |
| 601071.1.8 | Lebanon | Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | Female | Yes | Yes | First cousin of 601071.1.6 |
| 601071.1.9 | Lebanon | Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | Female | Yes | Yes | Sibling of 601071.1.8 |
| 601071.1.10 | Lebanon | Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment | Male | Yes | Yes | Sibling of 601071.1.8 |