Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_058172.5:c.1074delT | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 228600.1.2 | Egypt | Multiple joint contractures; Gingival overgrowth; Intractable diarrhea; Cardiac arrest | Unknown | Yes | Yes | Sibling of 228600.1.1 & 228600.1.3 |
| 228600.1.3 | Egypt | Multiple joint contractures; Diarrhea | Unknown | Yes | Yes | Sibling of 228600.1.1 & 228600.1.2 |