Patients carrying a variant in the DPYSL5 gene 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, typically ranging from moderate to severe
• 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
• Brain malformations, including agenesis of the corpus callosum and posterior fossa abnormalities, such as cerebellar hypoplasia
• Epilepsy, with variable presentation
• Ataxia
• Ophthalmological abnormalities, including refractive errors and strabismus
• Other reported malformations or conditions, such as cryptorchidism, hypogonadism, and orthopedic abnormalities (including scoliosis, joint deformities, foot malformations, joint hypermobility, and hip dislocation)
DPYSL5