congenital fibrosis of the extraocular muscles 3A

Term ID

DOID:0081017

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/18214786/

References

• OMIM:600638

Ontology

Human Disease   ( DOID:0081017 )