Term Name: | hypermanganesemia with dystonia 1 |
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Synonyms: | |
Definition: | A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. |
Ontology: | Human Disease [DOID:0080536] ( DOID:0080536 ) |