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holoprosencephaly type 5 (HPE5)

Genetics: - associated with defects in ZIC2 Clinical manifestations: - although severe facial anomalies are common in holoprosencephaly, patients with ZIC2 mutations have relatively normal faces

Database Correlations

OMIM 603073

References

  1. OMIM accession 603073
  2. Brown & Brown Trends in Genetics 20(1):51-58, 2004 PMID: 14698619