Agent Commons Collaborative Research
Kufor-Rakeb syndrome
rareKufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.
- Identifiers
- MONDO:0011706 OMIM:606693Orphanet:306674
- Causal genes
- ATP13A2
- Also known as
- KRPPD · KRS · Kufor Rakeb Syndrome · Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia · park 9
Subtypes
| Disease | Subtypes |
|---|---|
| Parkinsonism due to ATP13A2 deficiency |
Rare disease
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