Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001378778.1:c.5278G>A | 2 | |||
| NM_001170416.1:c.570_574dup | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615219.4 | Kuwait | 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. |
| 615219.5 | Kuwait | Ventriculomegaly; Holoprosencephaly; Macrocephaly; Stillbirth | Male | Yes | Yes | Subject had an older brother with severe hydrocephalus who died at 1 day of age. |