Male
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001281723.3:c.130G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 253260.1.1 | Lebanon | Seizure; Brain atrophy; Global developmental delay; Hyperreflexia; Optic disc pallor; Large for gestational age | Male | No | Yes | |
| 253260.1.3 | Lebanon | Female | No | Unaffected mother of 253260.1.1 |