Spastic paraplegia 56
| Disorder | |
|---|---|
| OMIM #: | #615030 (Click to access OMIM database) |
| Disorder: | Spastic paraplegia 56 |
| Also known as: | SPG56 |
| Clinical | |
| Phenotype: | early-onset progressive lower-limb spasticity, upper limbs spasticity, subclinical axonal neuropathy in some patients |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Old Order Mennonite | |
| Gene: | CYP2U1 |
| Base Change: | c.1206_1207delAG |
| Amino Acid Change: | |
| Last updated: | 2022-11-13 |
| References |
|---|
| Personal communication; seen at CSC. |
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