BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
Disease: Eye Manifestations ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015411
Disease: Eye Manifestations
Eye Manifestations 		0.010 GeneticVariation phenotype BEFREE The severe male X-linked recessive microphthalmia syndrome ('Lenz') usually includes developmental delay in addition to the eye findings and is caused by hypomorphic BCOR variants, mainly by a specific missense variant c.254C > T, p.(Pro85Leu). 29974297 2019