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neurodegeneration with brain iron accumulation 2B
Pathology:
- neurodegenerative disorder
- iron accumulation in brain, primarily in the basal ganglia
Genetics:
- associated with defects in PLA2G6
Clinical manifestations:
- progressive extrapyramidal dysfunction
- rigidity
- dystonia
- dysarthria
- sensorimotor impairment
Radiology:
- magnetic resonance imaging: iron in basal ganglia
General
neurodegeneration with brain iron accumulation
Database Correlations
OMIM 610217
References
OMIM :accession 610217