Term Name: congenital fibrosis of the extraocular muscles 3A
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.
Ontology: Human Disease [DOID:0081017]   ( DOID:0081017 )

Relationships
is a type of: autosomal dominant disease congenital fibrosis of the extraocular muscles