Common symptoms of childhood include:
• Global developmental delay / intellectual disability
• Expressive language reduced to absent
• Low muscle tone
• Seizures, common to have multiple types
• Disordered sleep
• Repetitive behaviours and stereotypies
• Ophthalmologic changes like high myopia or astigmatism with myopia
• Characteristic MRI changes (see references for detailed description)
Common symptoms in adulthood include:
• Cognitive decline / dementia
• Parkinsonism (tremors, bradykinesia, rigidity, postural instability)
• Progressive dystonia, spasticity
WDR45