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Microcephaly - cardiomyopathy

ORPHA2515
Synonym(s) Winship-Viljoen-Leary syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
OMIM
UMLS
  • C0796061
  • C1855080
MeSH
  • C536711
  • C537324
MedDRA -

Summary

Microcephaly-cardiomyopathy 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.


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