Two case reports of RAB39B deletion displaying highly variable parkinsonism.

Waisman's syndrome is a rare genetic disease related to mutation in the RAB39B gene, on the X-chromosome, and characterized by intellectual disability and parkinsonism. First case is a male with hemizygous deletion, associated with severe symptoms and acanthocytosis, second case is a female with heterozygous deletion and skewed X-inactivation.