Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_001182.4:c.1364T>C | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
266100.5 | Tunisia | Seizure | Male | Yes | ||
266100.6 | Tunisia | Seizure | Male | Yes | ||
266100.7 | Tunisia | Seizure | Male | Yes | ||
266100.9 | Tunisia | Seizure | Male | Yes | ||
266100.10 | Tunisia | Global developmental delay; Seizure; EEG with temporal sharp waves; Dilation of lateral ventricles | Male | Yes |