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Severe congenital nemaline myopathy

Disease definition

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

ORPHA:171430

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G71.2
  • OMIM: 161800  256030  615348  615731  616165
  • UMLS: -
  • MeSH: -
  • GARD: 12821
  • MedDRA: -

Detailed information

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