Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016390.4:c.1058C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 617614.1.1 | Syria | Intellectual disability, profound; Seizure; Microcephaly; Short stature; Limb hypertonia; Bruxism | Male | Yes | Yes | Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders. |