Psychomotor delay and intractable seizures
| Disorder | |
|---|---|
| OMIM #: | *611176 (Click to access OMIM database) |
| Disorder: | Psychomotor delay and intractable seizures |
| Also known as: | |
| Clinical | |
| Phenotype: | intractable seizures, psychomotor delay |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | JKAMP |
| Base Change: | ins.G, at nucleotide 243 |
| Amino Acid Change: | |
| Last updated: | 2019-07-04 |
| References |
|---|
| Personal communication; seen at CSC. |
Back