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Parkinson Disease and Complex Parkinsonism v1.68 | PDGFRB |
Zornitza Stark gene: PDGFRB was added gene: PDGFRB was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDGFRB were set to 23255827; 30979360 Phenotypes for gene: PDGFRB were set to Basal ganglia calcification, idiopathic, 4, MIM# 615007 Review for gene: PDGFRB was set to GREEN gene: PDGFRB was marked as current diagnostic Added comment: Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. Presentation is with parkinsonism and impaired cognitive function. Sources: Expert list |