Riboflavin transporter deficiency

MONDO:0008891

A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

Also known as: Brown-Vialetto-van Laere syndrome, Fazio-Londe syndrome, disorder of riboflavin transmembrane transporter activity, riboflavin transmembrane transporter activity disease, sensorineural hearing loss-pontobulbar palsy syndrome, Brown-Vialetto-Van Laere syndrome 1, BVVLS, BVVLS1

27 clinical trials for this condition and its sub-types.

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