Patients with CNOT2-related disorder typically exhibit a clinical profile characterized by developmental delay, including delays in speech and walking. Additionally, all patients display intellectual disability, varying from mild to severe. A majority of patients also experience behavioral problems, although further characterization of these issues is still needed. In addition, a significant proportion of patients with CNOT2-related disorder have been reported to exhibit nasal speech. While feeding difficulties may occur, it seems that growth retardation only affects a small minority of patients. The predominant facial characteristics commonly observed in individuals with CNOT2-related disorder include a high and flat forehead, straight and bushy eyebrows, deep-set eyes, upslanted palpebral fissures, a short and triangular nose with anteverted nostrils, a thin upper lip, mild micro/retrognathia, and low-set ears. In a minority of patients, hand and foot anomalies (such as brachydactyly, slender fingers, clino/campto-dactyly, and broad thumbs) may be observed. Additionally, skeletal defects including scoliosis/kyphosis, vertebral defects, and left/right asymmetry can also be present in some individuals. A small proportion of patients have been reported to have congenital heart defects, including ventricular septal defects, supra-valvular and valvular pulmonic stenosis, and dysplastic valves. Additionally, genitourinary and kidney anomalies have rarely been reported. Importantly, CNOT2-related disorder shows a significant overlap with chromosome 12q15 deletion syndrome.
CNOT2