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MIRAGE
autosomal dominant distal hereditary motor neuronopathy 10

Summary
Definition
An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23.
Super Class
autosomal dominant distal hereditary motor neuronopathy
Disease Ontology
DOID:0081399
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11117 EMILIN1 elastin microfibril interfacer 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9Y6C2 EMILIN-1
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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