Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016464.5:c.377-3C>G | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614465.10.2 | Syria | Abnormality of eye movement; Global developmental delay; Dandy-Walker malformation | Male | Yes | Yes | Relative of 614465.10.1 |