Term Name: | hypermanganesemia with dystonia 2 |
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Synonyms: | |
Definition: | A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21. |
Ontology: | Human Disease [DOID:0080537] ( DOID:0080537 ) |