Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 58495
Gene Symbol: OVOL2
OVOL2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation CLINVAR Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 28711739

2017