Frequent findings with INTS1 variants have include delayed speech development and low muscle tone. Children can be shorter and weigh less than expected for their age. Head may also be smaller than expected based on age. Eye findings are common and have included lens opacities, or cataracts, and other more minor findings such as deviated eyes or a need for glasses. The facial appearance of people with INTS1 variants may be different from other family members. A prominent and/or sunken chest bone (sternum), a shorter neck, and minor differences in formation of the fingers and toes have also been noted. A brain scan and renal scan may also show anomalies.
INTS1