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X-linked myotubular myopathy-abnormal genitalia syndrome

Disease definition

X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.

ORPHA:456328

Classification level: Disorder
  • Synonym(s):
    • Xq28 contiguous gene deletion syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: -
  • OMIM: 300219
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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