Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_133171.5:c.1817T>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 266270.1.1 | Lebanon | Gingival bleeding; Intellectual disability; Gingival overgrowth; Fibrous dysplasia of the bones ; | Female | Yes | Yes | |
| 266270.1.2 | Lebanon | Gingival bleeding; Intellectual disability; Gingival overgrowth; Fibrous dysplasia of the bones ; Short stature; | Male | Yes | Yes | Sibling of 266270.1.1; decesaed |
| 266270.1.4 | Lebanon | Female | Mother of 266270.1.1 |