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Microcephaly-cardiomyopathy syndrome

Disease definition

Microcephaly-cardiomyopathy syndrome is characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive.

ORPHA:2515

  • Synonym(s):
    • Winship-Viljoen-Leary syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 251220
  • UMLS: C0796061  C1855080
  • MeSH: C536711  C537324
  • GARD: 3609
  • MedDRA: -

Additional information

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