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 |
---|---|---|---|---|---|---|
228600.5.2 | Arab | Multiple joint contractures; Skin nodule; Gingival fibromatosis; Diarrhea; Failure to thrive; | Unknown | Yes |