| Metadata | |
|---|---|
| ID | DOID:0080537 |
| Name | hypermanganesemia with dystonia 2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/27231142 |
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