Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

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A rare developmental defect during embryogenesis characterized by the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis ptosis hypomimia skeletal features like patellar a/hypoplasia and renal and/or genital malformations.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome?

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