Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_020964.3:c.3447G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 242840.8.2 | Palestine | Agenesis of corpus callosum; Cataract; Pallor ; Cardiomyopathy; Profound global developmental delay; Failure to thrive; Microcephaly | Yes | Yes | Cousin of 242840.8.1 |