Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020812.4:c.1362_1365del | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614219.2.2 | Saudi Arabia | Global developmental delay; Seizure; Blindness; Microcephaly | Male | Yes | Yes | Relative of 614219.2.1 |