The clinical features of germinative variants in STAG2 vary with the nature of the mutation: loss-of-function variants, missense variants and gene duplications.
Main features include:
• 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
STAG2