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blepharophimosis-impaired intellectual development syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0081442
- Mondo Disease Ontology
- ORDO
- OMIM
