Kufor-Rakeb syndrome (DOID:0060556)
Alliance: disease page
Synonyms: autosomal recessive juvenile onset Parkinson disease 9; autosomal recessive Parkinson disease 9
Alt IDs: OMIM:606693, MESH:C537177, ORDO:306674, UMLS_CUI:C1847640
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.