Microcephaly, short stature, developmental delay, learning difficulties, mild skeletal defects e.g. clinodactyly, skin hyperpigmentation e.g. café-au-lait spots, attention deficit disorder, hypotonia/hypertonia, recurrent infections, anaemia, ocular abnormalities e.g. micropthalmia, cardiac defects e.g. atrial or ventricular septal defects, dental abnormalities e.g. irregular or small teeth, diabetes and hypothyroidism.
SMC5