Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006329.3:c.649T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219100.1.1 | Lebanon | Cutis laxa ; Inguinal hernia ; Delayed closure of the anterior fontanelle ; Hoarse voice ; Prematurely aged appearance ; Right ventricular dilatation ; Bilateral ptosis ; Narrow mouth | Male | Yes | Yes | Proband |
| 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 |
| 219100.1.4 | Lebanon | Short stature | Female | Yes | Unaffected mother of 219100.1.1 |