Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015311.3:c.1306del | 6 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 612921.G.2 | Saudi Arabia | Ulcerative colitis; Bloody diarrhea; Short stature; Frontal bossing; Triangular face | Male | Yes | Yes | Three related patients |