Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001079673.2:c.1186G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615794.1.1 | Kuwait | Intellectual disability, severe; Seizure; Hypotonia; Short stature | Male | Yes | Yes | Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders. |