Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_058172.6:c.347G>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 228600.7.1 | Lebanon | Skin nodule ; Papule ; Gingival overgrowth ; Decreased muscle mass | Male | Yes | Yes | Proband |
| 228600.7.2 | Lebanon | Skin nodule ; Papule ; Gingival overgrowth ; Decreased muscle mass; Chronic diarrhea | Male | Yes | Yes | Brother of 228600.7.1 |
| 228600.7.3 | Lebanon | Skin nodule ; Papule ; Gingival overgrowth ; Decreased muscle mass; Growth delay | Male | Yes | Yes | Brother of 228600.7.1 |
| 228600.7.4 | Lebanon | Skin nodule ; Papule ; Gingival overgrowth ; Decreased muscle mass ; Elbow flexion contracture ; Congenital finger flexion contractures ; Hip contracture ; Knee flexion contracture ; Frog-leg posture | Male | Yes | Yes | Relative of 228600.7.1 |
| 228600.7.6 | Lebanon | Male | Yes | Yes | Unaffected father of 228600.7.1 | |
| 228600.7.7 | Lebanon | Female | Yes | Yes | Unaffected mother of 228600.7.1 |