ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Disease: Epithelial cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014511
Disease: Epithelial cyst
Epithelial cyst 		0.010 GeneticVariation phenotype BEFREE We report on a patient with holoprosencephaly caused by a rare ZIC2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. 30894326 2020