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X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

Disease definition

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

ORPHA:324410

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 300886
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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