Main Clinical Features
● Hypotonia: Decreased muscle tone, typically present at birth but may be noticed later
● Spasticity: Increased muscle stiffness
● Dystonia: Sustained or intermittent involuntary muscle contractions causing abnormal postures or movements
● Developmental Delay/Intellectual Disability: Not meeting developmental milestones and lower than average cognitive functioning
Less common
● Respiratory/Swallowing Insufficiency: Impaired pulmonary function and dysphagia, increasing risk of aspiration and respiratory complications
● Oculomotor Dysfunction: Abnormalities in eye movement control, such as impaired tracking and saccades
● Seizures: Episodes of abnormal electrical activity in the brain presenting as convulsions, staring spells, or other neurological events
EXOSC3