Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003895.3:c.709C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617389.1.2 | Oman; United Arab Emirates | Seizure; Global developmental delay; Hypotonia; Absent speech; Hypsarrhythmia; Cerebral atrophy | Female | Yes | Yes | Relative of 617389.1.1 |