The clinical features of NSRP1-associated syndrome includes:
• Developmental delay/intellectual disability – most patients cannot speak and may not be able to walk.
• Seizures – beginning in infancy, often resistant to anti-seizure medicines
• Abnormal brain imaging detect by magnetic resonance imaging
• Low muscle tone or floppiness, especially involving the trunk
• Stiffness of the arms and legs
• Small head
• Difficulty swallowing liquids or eat foods
• Distinctive facial features relative to parents
NSRP1