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Metadata
ID	DOID:0081017
Name	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. https://pubmed.ncbi.nlm.nih.gov/18214786/
Xrefs	MIM:600638
Parent Relationships	is_a congenital fibrosis of the extraocular muscles is_a autosomal dominant disease