| Main clinical features
|
feeding difficulties, seizures, distinctive facial features, and severe to profound global developmental delay and/or intellectual disability, truncal hypotonia, global motor disability, and very limited verbal communication
facial features include tall foreheads with bitemporal narrowing, sparsity of the lateral forehead hair, a bulbous, slightly overhanging nasal tip, longer philtrum; prominent columella, and a thin upper lip
cardiac malformations, including atrial and ventricular septal defects, hand and foot features were overlapping toes, camptodactyly, persistent fetal fingertip pads, and abnormalities of the palmar creases |