Riboflavin transporter deficiency
Riboflavin transporter deficiency
Definition
A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
Also known as Brown-Vialetto-van Laere syndrome, disorder of riboflavin transmembrane transporter activity, Fazio-Londe syndrome, riboflavin transmembrane transporter activity disease, sensorineural hearing loss-pontobulbar palsy syndrome — per MONDO