This website provides information on patients with mutations in the STAG2 (stromal antigen 2) gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the STAG2 gene is a multisystem disorder characterized by
•    Intellectual deficiency
•    Holoprosencephaly
•    Growth retardation
•    Neuropsychiatric behaviors
•    Microcephaly
•    Cleft palate
•    Syndactyly
•    Deafness, which can be unilateral
•    Pigmentary defects
•    Limb reduction defects
•    Vertebral defects
•    Cardiac defects
•    Organ abnormalities

Not all individuals with a mutation in the STAG2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the STAG2 gene.

Sérgio D.J. Pena, MD, PhD, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil,,

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