ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221363
Disease: Bifid nose
Bifid nose
0.010 GeneticVariation disease 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