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Definition

A metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis.

Acronym

HMNDYT1

Synonyms

HMDPC
Hypermanganesemia with dystonia, polycythemia, and cirrhosis

Keywords

Neurodegeneration
Parkinsonism
Dystonia