fetal akinesia deformation sequence syndrome 1

Summary
Synonym
  • FADS1
Definition
A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.
Super Class
autosomal recessive disease fetal akinesia deformation sequence syndrome
External Links
Disease Ontology
DOID:0111377
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
1272 CNTN1 contactin 1
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
2629 GBA1 glucosylceramidase beta 1
2632 GBE1 1,4-alpha-glucan branching enzyme 1
5160 PDHA1 pyruvate dehydrogenase E1 subunit alpha 1
94005 PIGS phosphatidylinositol glycan anchor biosynthesis class S
375790 AGRN agrin

About Release Notes Help Feedback

International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024