Torkelson syndrome
| Disorder | |
|---|---|
| OMIM #: | |
| Disorder: | Torkelson syndrome |
| Also known as: | |
| Clinical | |
| Phenotype: | villous edema, thick villi in duodenum, vomiting, diarrhea, decreased IgG, hypoalbuminemia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | APOA4 |
| Base Change: | c.552_749dup |
| Amino Acid Change: | |
| Last updated: | 2022-11-12 |
| References |
|---|
| Dinn SE, Wrobel I, Bhandal S, Brundler M. (2022) A69 Long-term effects of Torkelson syndrome. J of the Canadian Assoc of Gastroenterology 5(1):79-80. |
| Personal communication; seen at CSC. |
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