Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020964.3:c.5993C>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 242840.4.1 | Palestine | Agenesis of corpus callosum; Cataract ; Pallor; Cardiomyopathy; Profound global developmental delay | Yes | Yes | The patient had an additional 2 siblings and a cousin who were similarly affected but not tested for EPG5 mutations |