Male
Yes
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 |
|---|---|---|---|---|---|---|
| 614019.4.1 | Saudi Arabia | Dysplastic corpus callosum; Colpocephaly ; Pachygyria; Abnormality of neuronal migration; Intrauterine growth retardation | Male | Yes | Yes |