Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016373.4:c.606-1G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616211.4.1 | United Arab Emirates | Hypertonia; Seizure; Hypsarrhythmia; Epileptic spasm; Spasticity; Global developmental delay; Ventilator dependence with inability to wean; Axial hypotonia; Hyperreflexia; Failure to thrive; Secondary microcephaly | Male | Yes | Yes | |
| 616211.4.3 | United Arab Emirates | Female | Mother of 616211.4.1 |