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MIRAGE
arthrogryposis multiplex congenita-3

Summary
Definition
An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25.
Super Class
arthrogryposis multiplex congenita
Disease Ontology
DOID:0080979
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
23345 SYNE1 spectrin repeat containing nuclear envelope protein 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8NF91 Nesprin-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: April 7, 2025