| Main clinical features
|
developmental delay (DD) and/or intellectual disability with cupped, prominent and/or low-set ears, speech delay (delayed onset of producing first words), hypotonia, mild to moderate delays in neurodevelopment, epilepsy
also autism spectrum disorder (ASD), delays in both fine and gross motor development
facial dysmorphy with open-mouth appearance, a broad and bulbous nasal tip, hypertelorism, epicanthal folds, and peri-orbital fullness
at MRI, delayed myelination, cerebral atrophy, and corpus callosum abnormalities |