Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_022786.2:c.565G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617020.1.1 | Saudi Arabia | Epileptic encephalopathy; Intellectual disability, severe; Ataxia; Poor head control | Male | Yes | Yes | Second cousin of patient siblings 617020.1.2 and 617020.1.3; Brother passed away at 4 years of age with a similar disorder (no molecular testing). |
| 617020.1.3 | Saudi Arabia | Epileptic encephalopathy; Intellectual disability, severe; Ataxia; Visual impairment | Female | Yes | Yes |