Basel-Vanagaite-Smirin-Yosef syndrome

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Basel-Vanagaite-Smirin-Yosef syndrome

A rare genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability microcephaly growth retardation ocular defects such as congenital cataract and nevus flammeus simplex on the forehead. Cardiac urogenital and skeletal abnormalities as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair downslanting palpebral fissures hypertelorism broad and overhanging nasal tip and short philtrum among others.

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 September 2023.

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Basel-Vanagaite-Smirin-Yosef syndrome?

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