Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017890.4:c.1219C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 216550.2.1 | Saudi Arabia | Microcephaly; Retinal dystrophy; Myopia; Abnormal length of corpus callosum; Inferior cerebellar vermis hypoplasia; | Female | Yes | Yes | Sibling of 216550.2.2 and 216550.2.3 |
| 216550.2.2 | Saudi Arabia | Microcephaly; Inferior cerebellar vermis hypoplasia; | Male | Yes | Yes | Sibling of 216550.2.1 and 216550.2.3 |