Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001387025.1:c.994C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 620179.1.1 | Syria | Intellectual disability, moderate | Female | Yes | Yes | Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders. |