Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003413.3:c.1222A>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 306955.1.1 | Lebanon | Cyanosis; Neonatal respiratory distress; Hypertelorism; Sagittal craniosynostosis; Transposition of the great arteries; Neonatal death; | Male | Yes | Maternal cousin of 306955.1.2 | |
| 306955.1.2 | Lebanon | Cyanosis; Neonatal respiratory distress; Hypertelorism; Wide nasal base; Persistent left superior vena cava; Atrial septal defect; Hypoplasia of right ventricle; Neonatal death; | Male | Yes | Maternal cousin of 306955.1.1 | |
| 306955.1.4 | Lebanon | Female | Mother of 306955.1.1 | |||
| 306955.1.5 | Lebanon | Female | Mother of 306955.1.2 | |||
| 306955.1.6 | Lebanon | Female | Grandmother of 306955.1.1 and 306955.1.2 | |||
| 306955.1.7 | Lebanon | Male | Maternal Uncle of 306955.1.1 306955.1.2 |