Note that the phenotypic spectrum of PRKAR1B mutations is still being uncovered, and not all individuals with MASNS present these features, but main characteristics of affected children include:
• Increased BMI (in some patients)
• Dysmorphic facial features, nonspecific (in some patients)
• Global developmental delay
• Speech delay
• Regression (in some patients)
• Hypotonia
• movement disorders (Dyspraxia and Apraxia)
• High pain tolerance
• Seizures (in some patients)
• Sleep disturbances
• Behavioral abnormalities
• Autism spectrum disorder
• ADHD
• Aggression
• Hand-flapping
• Hyperphagia (in some patients)
PRKAR1B