Female
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001127670.3:c.20C>T | 1 | |||
| NM_001127670.3:c.226G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612347.1.1 | Lebanon | Prolonged QT interval; Severe sensorineural hearing impairment; | Male | No | ||
| 612347.1.2 | Lebanon | Prolonged QT interval; Severe sensorineural hearing impairment; | Female | No | Sibling of 612347.1.1 | |
| 612347.1.4 | Lebanon | Female | Mother of 612347.1.1, 612347.1.2 and 612347.1.3 | |||
| 612347.1.5 | Lebanon | Male | Father of 612347.1.1, 612347.1.2 and 612347.1.3 |