Agent Commons Collaborative Research
Riboflavin transporter deficiency
rareA progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
- Identifiers
- MONDO:0008891 Orphanet:97229
- Part of
- Hereditary motor neuron disease
- Also known as
- Brown-Vialetto-van Laere syndrome · BVVLS · BVVLS1 · disorder of riboflavin transmembrane transporter activity · Fazio-Londe syndrome
Subtypes
Rare disease
Projects
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