Long QT syndrome 2
| Disorder | |
|---|---|
| OMIM #: | #613688 (Click to access OMIM database) |
| Disorder: | Long QT syndrome 2 |
| Also known as: | |
| Clinical | |
| Phenotype: | prolonged QT interval, polymorphic ventricular arrhythmias (torsade de pointes), recurrent syncope, seizure, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | KCNH2 |
| Base Change: | A>C, at nucleotide 1897 |
| Amino Acid Change: | |
| Last updated: | 2022-11-05 |
| References |
|---|
| Personal communication; seen at CSC. |
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