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 |
|---|---|---|---|---|---|---|
| 615219.3.2 | 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). |
| 615219.3.3 | Saudi Arabia | Severe hydrocephalus; Intellectual disability, borderline; Macrocephaly; Esotropia | Female | Yes | Yes | Maternal aunt of 615219.3.1. and sibling of 615219.3.2. Subject had 4 additional affected deceased siblings that were not tested for the variant (2 stillbirths and two died in infancy). |