DO_rare_slim has material basis in X-linked monogenic disease syndromic microphthalmia syndromic microphthalmia 1 MESH:C537464 GARD:87 ORDO:85275 GARD:5066 A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. disease_ontology MIM:309800 ORDO:568 DOID:0111799 DOID:0111810 In OMIM, a form of syndromic microphthalmia, formerly designated MCOPS4, has been found to be the same entity as MCOPS1. Type 4 obsoleted by OMIM, merged into type 1 [LS]. Lenz dysplasia Lenz microphthalmia Lenz type microphthalmia MCOPS1 UMLS_CUI:C1844948 SNOMEDCT_US_2025_09_01:717222003 syndromic microphthalmia 4 X-linked inheritance