Moebius syndrome

Summary
Synonym
  • Mobius syndrome
  • Moebius congenital oculofacial paralysis
  • Oromandibular-limb hypogenesis spectrum
Definition
A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).
Super Class
autosomal dominant disease facial nerve disease
External Links
Disease Ontology
DOID:13501
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
1109 AKR1C4 aldo-keto reductase family 1 member C4
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1836 SLC26A2 solute carrier family 26 member 2
2539 G6PD glucose-6-phosphate dehydrogenase
2619 GAS1 growth arrest specific 1
2998 GYS2 glycogen synthase 2
4047 LSS lanosterol synthase
4907 NT5E 5'-nucleotidase ecto
5067 CNTN3 contactin 3
9382 COG1 component of oligomeric golgi complex 1

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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