Term Name:	blepharophimosis-impaired intellectual development syndrome
Synonyms:	SMARCA2-related blepharophimosis-intellectual disability syndrome
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.
Ontology:	Human Disease [DOID:0081442]   ( DOID:0081442 )