Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_024570.3:c.529G>A | 2 | |||
| NM_024570.4:c.239A>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610181.2.1 | Lebanon | Microcephaly; Global developmental delay; Intellectual disability; Spasticity; Brain atrophy; Abnormal cerebral white matter morphology; Seizure | Female |