Orphanet: Spinal muscular atrophy with respiratory distress type 1

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Spinal muscular atrophy with respiratory distress type 1


  • Synonym(s):
    • Autosomal recessive distal spinal muscular atrophy type 1
    • Autosomal recessive spinal muscular atrophy with respiratory distress
    • Diaphragmatic spinal muscular atrophy
    • Distal hereditary motor neuropathy type 6
    • Distal-HMN type 6
    • SIANRF
    • SMARD1
    • Severe infantile axonal neuropathy with respiratory failure type 1
    • dHMN6
    • dSMA1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: G12.2
  • OMIM: 604320
  • UMLS: C1858517
  • MeSH: -
  • GARD: 8592
  • MedDRA: -

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