Male
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_018129.4:c.674G>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
610090.2 | United Arab Emirates | Seizure | Male | Yes | Patient had a brother with intractable epilepsy and global developmental delay who passed away at 19 months of age, presumably with the same mutation. Belongs to the same tribe as 610090.1.1. | |
610090.4 | United Arab Emirates | Seizure; Infantile spasms | Female | Yes | Belongs to the same tribe as 610090.1.1 |