The main clinical features for males include hypertrophic cardiomyopathy, skeletal muscle myopathy, and mild intellectual disability. Typically, the intellectual disability and mild muscle weakness is present in early childhood with cardiac disease becoming more obvious and problematic in the pre-teen years. Transplantation or death from heart failure appears inevitable in males by or before the age of approximately 30 years. Females are also affected and display a much wider range of phenotypes from minimally symptomatic in childhood and young adulthood to severe disease that mirrors what is seen in males. In most cases, females do not have overt muscle weakness or intellectual impairment. Both sexes experience cardiac conduction disease and arrhythmias and visual impairment is common due to retinal pigmentary disease.
LAMP2