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Riboflavin transporter deficiency

Disease definition

Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

ORPHA:97229

  • Synonym(s):
    • Brown-Vialetto-van Laere syndrome
    • Sensorineural hearing loss-pontobulbar palsy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G12.1
  • OMIM: 211500  211530  614707
  • UMLS: C0796274
  • MeSH: C537111
  • GARD: 9993
  • MedDRA: -

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