Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001378778.1:c.4469del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615219.6.1 | Palestine | Hydrocephalus; Single umbilical artery; Polyhydramnios; Atrial septal defect; Gray matter heterotopia; Central diaphragmatic hernia; Macular hypoplasia; Frontal bossing; Facial asymmetry; Bulbous nose | Female | No | Yes | |
| 615219.6.2 | Palestine | Male | Father of 615219.6.1 |