Parkinson disease, juvenile, type 2
| Disorder | |
|---|---|
| OMIM #: | |
| Disorder: | Parkinson disease, juvenile, type 2 |
| Also known as: | PARKINSON DISEASE, JUVENILE, AUTOSOMAL RECESSIVE PDJ PARKINSONISM, EARLY-ONSET, WITH DIURNAL FLUCTUATION EPDF |
| Clinical | |
| Phenotype: | Onset of Parkinson's before age 40 - bradykinesia, rigidity, tremor |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | PARK2 |
| Base Change: | c.101_102delAG |
| Amino Acid Change: | |
| Last updated: | 2022-11-11 |
| References |
|---|
| Personal communication; seen at CSC. |
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