Disease

congenital fibrosis of the extraocular muscles 3A

Definition
A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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Associated Models