congenital fibrosis of the extraocular muscles

Summary
Definition
An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position.
Super Class
ocular motility disease physical disorder
Disease Ontology
DOID:0080143
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
10381 TUBB3 tubulin beta 3 class III
55605 KIF21A kinesin family member 21A
Displaying all 2 entries
Gene ID Gene Symbol Description Source
16564 Kif21a kinesin family member 21A
22152 Tubb3 tubulin, beta 3 class III

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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: December 9, 2024