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Images of four of the individuals carrying the mutation in the IQSEC2 gene. All present similar facial features with bulbous nose, smooth wide philtrum and thin upper lip. (a) Patient II5 at the age of 32 years. He presents with severe ID. (b) Patient II6 at the age of 29 years. He presents with moderate ID. (c) Patient II.4 at the age of 39 years. She presents with mild ID. (d) Patient I2 at the age of 62 years. She presented mild ID.
