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Brown-Vialetto-Van Laere syndrome

Official Community

BVVL has recently been renamed to Riboflavin Transporter Deficiency (RTD).

Riboflavin Transporter Deficiency (RTD) is a disorder characterized by nerve problems, particularly hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss). The age at which this condition begins varies from infancy to young adulthood. When RTD begins in infancy, the first symptom is often breathing problems caused by nerve damage. When the condition begins in children or young adults, sensorineural hearing loss usually occurs first, followed by signs of other nerve problems.

Source BVVL.co.uk