OBO ID: DOID:0081015
Term Name: congenital fibrosis of the extraocular muscles 1 Search Ontology:
Synonyms:
Definition: A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. https://pubmed.ncbi.nlm.nih.gov/18214786/
References:
Ontology: Human Disease   ( DOID:0081015 )
OTHER congenital fibrosis of the extraocular muscles 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIF21A Fibrosis of extraocular muscles, congenital, 1 135700
Fibrosis of extraocular muscles, congenital, 3B 135700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None