Term Name: | blepharophimosis-impaired intellectual development syndrome |
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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 ) |