Unknown
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_058172.5:c.134T>C |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 228600.5.1 | Arab | Multiple joint contractures; Skin nodule; Gingival fibromatosis; Diarrhea; Failure to thrive; | Unknown | Yes |