People with CNOT2-related disorder often have delays in their development, including a slower development of speech and walking. They also experience intellectual disability, ranging from mild to severe. Many of them have behavioral problems, although we still need to learn more about these issues. Some people with this disorder have nasal speech, and a few may have difficulty with feeding. Some facial features can be noticed including a high and flat forehead, straight and bushy eyebrows, deep-set eyes with upslanted palpebral fissures, and a short triangular nose with upward-facing nostrils. They may have a thin upper lip, a small chin, and low-set ears. In some cases, their hands and feet may look a bit different, with short fingers, bent fingers, or broad thumbs. A few individuals may also have problems with their bones, like an abnormal curve in their spine called scoliosis/kyphosis or malformed vertebrae. Sometimes, there can be cardiac defects at birth, like a hole in the wall that separates the heart chambers, or some valves abnormalities. Rarely, there can be issues with the urinary and kidney system. This disorder is similar to another condition called chromosome 12q15 deletion syndrome in many ways.
CNOT2