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Disease Ontology Browser
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory