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Autosomal dominant childhood-onset proximal spinal muscular atrophy


Classification level: Disorder
  • Synonym(s):
    • Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy
    • SMALED
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood, Adolescent, Antenatal, Neonatal
  • ICD-10: G12.1
  • OMIM: 158600  615290
  • UMLS: C1834690
  • MeSH: -
  • GARD: -
  • MedDRA: -

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