Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003829.5:c.1744C>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615219.2.1 | United Arab Emirates | Hydrocephalus; Macrocephaly; Frontal bossing; High palate | Male | Yes | No | Proband |
| 615219.2.3 | United Arab Emirates | Female | Yes | Mother of 615219.2.1. She has a family history of hydrocephalus with an affected niece |