ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE These findings expanded the spectrum of the ZIC2 gene mutations and associated clinical manifestations, which is the first identification of a mutated ZIC2 gene in a Han infant girl with mild microcephaly, semilobor HPE, and arachnoid cyst. 30855487 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO