Male
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017668.3:c.658C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614019.5 | Saudi Arabia | Pachygyria; Abnormal cortical gyration; Agenesis of corpus callosum; Abnormality of neuronal migration; Global developmental delay | Female | No | Yes |