The clinical features of germinative variants in STAG2 vary with the nature of the mutation: loss-of-function variants, missense variants and gene duplications.
• Intellectual deficiency
• Holoprosencephaly (Holoprosencephaly (HPE) is the failure frontal lobe of the brain to develop normally. Instead of the normal complete separation of the left and right halves of the frontal lobe, there is an abnormal continuity between the two sides.)
• Growth retardation
• Neuropsychiatric behaviors
• Microcephaly (Microcephaly is a birth defect where a baby’s head is smaller than expected. Babies with microcephaly often have smaller brains that might not have developed properly.)
• Cleft palate (A cleft palate is an opening in the roof of the mouth. It is present from birth).
• Syndactyly (Syndactyly is a condition wherein two or more digits or toes are fused together).
• Deafness, which can be unilateral.
• Pigmentary defects (Pigmentary disorders result from a problem with melanin, a pigment produced by melanocytes that helps determine the color of the skin, hair, and eye iris).
• Limb reduction defects (Upper and lower limb reduction defects occur when a part of or the entire arm or leg of a fetus fails to form completely during pregnancy).
• Vertebral defects.
• Cardiac defects.
• Organ abnormalities (may include renal, urinary, gonadal, gastroesophageal, and others.)
STAG2