Term Name: | Kufor-Rakeb syndrome |
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Synonyms: | autosomal recessive juvenile onset Parkinson disease 9, autosomal recessive Parkinson disease 9 |
Definition: | An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. |
Ontology: | Human Disease [DOID:0060556] ( DOID:0060556 ) |