OTX2, orthodenticle homeobox 2, 5015

N. diseases: 200; N. variants: 23
Disease: Microphthalmos, Autosomal Recessive ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		0.300 GermlineCausalMutation disease ORPHANET Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. 24033328 2014