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Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Disease definition

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

ORPHA:1369

Classification level: Disorder
  • Synonym(s):
    • Sengers syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 212350  615418
  • UMLS: C1859317
  • MeSH: C538280
  • GARD: 1142
  • MedDRA: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.