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Summary Literature (0)
DOID:0081442 - blepharophimosis-impaired intellectual development syndrome

Disease Ontology Definition:A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.

Synonyms: SMARCA2-related blepharophimosis-intellectual disability syndrome,

Xenbase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee