Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017668.3:c.775del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614019.1.1 | Saudi Arabia | Lissencephaly; Agenesis of corpus callosum; Colpocephaly ; Abnormality of neuronal migration; Hypertonia; Global developmental delay | Female | Yes | Yes |