eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | kufor-rakeb syndrome |
| Comorbidity | C0030567|parkinson\'s disease |
| Sentences | 1 |
| PubMedID- 25900096 | The importance of atp13a2 (park9) in parkinson's disease (pd) has emerged with the discovery that mutations in this gene cause kufor-rakeb syndrome, an autosomal recessive, juvenile-onset form of parkinsonism associated with the additional clinical triad of spasticity, supranuclear gaze palsy, and dementia. |
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