holoprosencephaly type 5 (HPE5)
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Genetics
- associated with defects in ZIC2
Clinical manifestations
- although severe facial anomalies are common in holoprosencephaly, patients with ZIC2 mutations have relatively normal faces
More general terms
References
- ↑ OMIM accession 603073
- ↑ Brown & Brown Trends in Genetics 20(1):51-58, 2004 PMID: https://www.ncbi.nlm.nih.gov/pubmed/14698619