Takeaway
Phenome-wide association studies (PheWAS) was used to identify and distinguish patterns of morbidity in children with leukodystrophies.
Why this matters
Leukodystrophies are rare, progressive, metabolic, genetic diseases that affect the development of white matter (myelin sheath) in the brain, spinal cord and often the peripheral nerves. They are each caused by a specific gene and are associated with significant comorbidities.
Due to their rarity, understanding of the disease is limited; a better understanding of the unique features of different leukodystrophies and identification of shared patterns of morbidity could guide better more tailored care.