LICAS can present with global developmental delay, intellectual disability, epilepsy, hypotonia, hypothyroidism, ptosis, and short stature. Cardiac anomalies such as patent ductus arteriosus, ventricular septal defect, patent foramen ovale, and atrial septal defect have been described. Male individuals affected show genitourinary anomalies such as a small penis and cryptorchidism. Some individuals show dysmorphic facial features such as prominent forehead, hypertelorism, telecanthus, epicanthus, downslanting palpebral fissures, thick eyebrows, low-set ears, long philtrum, unilateral single transverse palmar crease, and hypertrichosis.
UBR7