Human Gene Set: HP_CONGENITAL_FIBROSIS_OF_EXTRAOCULAR_MUSCLES
Standard name
HP_CONGENITAL_FIBROSIS_OF_EXTRAOCULAR_MUSCLES
Systematic name
M45398
Brief description
Congenital fibrosis of extraocular muscles
Full description or abstract
Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. [https://orcid.org/0000-0002-0736-9199]
