WDR45

Clinical Characteristics for Families

Common symptoms of childhood include:
•    Global developmental delay / intellectual disability
•    Spoken language reduced to absent; comprehension is usually better
•    Low muscle tone (floppy)
•    Seizures, common to have multiple types
•    Disordered sleep, usually frequent waking during the night
•    Repetitive behaviours and movements
•    Vision changes that often require correction with glasses

Common symptoms in adulthood include:
•    Cognitive decline / dementia
•    Parkinsonism (tremors, slow movement, balance problems, rigid muscles)
•    Dystonia (muscle cramping/writhing), spasticity (tight muscles)