Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001378778.1:c.628C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615219.4 | Saudi Arabia | Ventriculomegaly; Severe hydrocephalus; Ventricular septal defect | Female | Yes | Yes | Subject had two older deceased siblings. The prenatal findings for the second sibling included severe hydrocephalus, cleft lip and palate, and vetricular septal defect. |
| 615219.7 | Saudi Arabia | Macrocephaly; Iris coloboma; Hypotonia; Intrahepatic cholestasis with episodic jaundice; Multicystic kidney dysplasia | Male | No | Yes | Patient has 2 distinct disorders- Hydrocephalus and Cholestasis |