Patients carrying a variant in the DPYSL5gene may develop a range of symptoms with variable presence and severity (i.e., variable expressivity).
Clinical features observed in these patients may include:
• Intellectual developmental disorder
• Neonatal and early childhood hypotonia
• Global developmental delay, affecting both motor and language skills, with language delay being more prominent
• Behavioral disorders, such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), aggressiveness, and temper tantrums
• Variable brain malformations
• Epilepsy, with variable presentation
• Ophthalmological abnormalities, including refractive errors and strabismus
DPYSL5