Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_017668.3:c.684_685del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614019.7.1 | Saudi Arabia | Microcephaly; Severe global developmental delay; Growth delay; Agenesis of corpus callosum; Simplified gyral pattern | Female | Yes | Yes | From Eastern Saudi Arabia |
| 614019.7.2 | Saudi Arabia | Microcephaly; Severe global developmental delay; Growth delay; Agenesis of corpus callosum; Simplified gyral pattern | Female | Yes | Yes | Sister of 614019.7.1 |
| 614019.7.4 | Saudi Arabia | Female | Mother of 614019.7.1 |