Female
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 |
266270.1.3 | Lebanon | Male | Father of 266270.1.1 |