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Methylmalonic acidemia with homocystinuria, type cblX

ORPHA:369962

Classification level: Subtype of disorder
  • Synonym(s):
    • Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
    • Methylmalonic aciduria with homocystinuria, type cblX
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.1
  • OMIM: 309541
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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