Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006329.3:c.649T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219100.1.2 | Lebanon | Cutis laxa ; Inguinal hernia ; Prematurely aged appearance ; Secundum atrial septal defect ; Kyphoscoliosis ; Delayed skeletal maturation ; Bilateral ptosis ; Narrow mouth | Female | Yes | Yes | Sister of 219100.1.1 |
| 219100.1.3 | Lebanon | Short stature | Male | Yes | Unaffected father of 219100.1.1 | |
| 219100.1.4 | Lebanon | Short stature | Female | Yes | Unaffected mother of 219100.1.1 |