Disease: Microphthalmia and mental deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931500
Disease: Microphthalmia and mental deficiency
Microphthalmia and mental deficiency 		0.010 GeneticVariation disease BEFREE Our data strongly implicate mutations in C12orf57 in the pathogenesis of a clinically distinct autosomal-recessive syndromic form of colobomatous microphthalmia. 23453665 2013