Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_014714.4:c.1990G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 266920.2.2 | Saudi Arabia | Global developmental delay; Agenesis of corpus callosum; Deeply set eye | Male | Yes | Yes | Relative of 266920.2.1 |