The main clinical features include:
• intellectual disability (present in all reported individuals),
• microcephaly (in about 50%),
• seizures (in about 50%),
• PVNH (in about 30%).
Other frequent findings are speech delay, motor delay, and brain MRI abnormalities such as cortical dysplasia, polymicrogyria, and thin corpus callosum. Less common but recurrent features include microretrognathia, low-set ears, dental malposition, short philtrum, visual and hearing impairments, sleep disturbance, cardiac defects, hypospadias, and some idiopathic cutaneous or hepatic manifestations.
ARF1