WDR45

Clinical Characteristics

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