Term Name: Kufor-Rakeb syndrome
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 )

Relationships
is a type of: autosomal recessive disease early-onset Parkinson's disease