OVOL2, ovo like zinc finger 2, 58495

N. diseases: 58; N. variants: 9
Disease: Microcephaly (physical finding) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation phenotype CLINVAR Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 28711739 2017