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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
Disease Ontology
DOID:0080537
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23516 SLC39A14 solute carrier family 39 member 14
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q15043 Metal cation symporter ZIP14
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 8, 2025