Female
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 |
---|---|---|---|---|---|---|
615219.3.1 | Saudi Arabia | Ventriculomegaly; Lissencephaly; Colpocephaly; Dysplastic corpus callosum; Severe hydrocephalus; Chorioretinal coloboma; Atrial septal defect; Seizure | Female | Yes | Yes | Proband |
615219.3.2 | Saudi Arabia | Severe hydrocephalus; Seizure; Visual impairment; Intellectual disability, mild | Male | Yes | Yes | Maternal uncle of 615219.3.1. Subject had 4 additional affected deceased siblings that were not tested for the variant (2 stillbirths and two died in infancy). |