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Standards Ontologies Notations
hypermanganesemia with dystonia 2

Summary
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.
Super Class
hypermanganesemia with dystonia
External Links
Disease Ontology
DOID:0080537
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23516 SLC39A14 solute carrier family 39 member 14
Displaying 1 entry
Gene ID Gene Symbol Description Source
213053 Slc39a14 solute carrier family 39 (zinc transporter), member 14
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024