| Main clinical features
|
muscular hypotonia, global developmental delay, dysmorphic facial features, feeding difficulties or failure to thrive; moderate-to-severe intellectual disability
aplasia or hypoplasia of corpus callosum and atypical behavior were present in almost half of the cases
also associated to congenital abnormalities of the heart, gastrointestinal, skeletal, and/or urogenital systems, retinal degeneration, short stature, craniofacial abnormalities, brachydactyly, and neurological defects |