ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Disease: Cleft face ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0685787
Disease: Cleft face
Cleft face 		0.010 GeneticVariation disease BEFREE In documented patients from the literature, only 2% of individuals with described pathogenic mutations in the ZIC2 gene (3/171) presented facial clefts, one of them a nasal cleft, while common oral clefts were observed in 27% of individuals (7/26) described with nonpathogenic ZIC2 mutations or presenting a concomitant mutation in another HPE gene. 24677696 2014