Timothy Syndrome
| Disorder | |
|---|---|
| OMIM #: | #601005 (Click to access OMIM database) |
| Disorder: | Timothy Syndrome |
| Also known as: | LONG QT SYNDROME WITH SYNDACTYLY |
| Clinical | |
| Phenotype: | multiorgan dysfunction, facial dysmorphism, lethal arrhythmias, long QT interval, congenital heart defect, cardiomyopathy, syndactyly, immune deficiency, intermittent hypoglycemia, developmental delay, autism, hypotonia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | CACNA1C |
| Base Change: | G>A, at nucleotide 1216 |
| Amino Acid Change: | |
| Last updated: | 2022-12-29 |
| References |
|---|
| Personal communication; seen at CSC. |
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