blepharophimosis-impaired intellectual development syndrome (DOID:0081442)
Alliance: disease page
Synonyms: SMARCA2-related blepharophimosis-intellectual disability syndrome
Alt IDs: OMIM:619293, ORDO:637013
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.