Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_021976.5:c.1091C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 180246.1.1 | Syria | Intellectual disability, severe; Short stature; Microcephaly | Female | Yes | Yes | Authors classified this gene variant as a "confident" novel candidate for neurodevelopmental disorders. |