has characteristic has characteristic has material basis in germline mutation in CHRDL1 megalocornea isolated congenital megalocornea https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/isolated_congenital_megalocornea MONDO:0010649 UMLS:C4518341 Orphanet:91489 Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma. MEDGEN:1385311 OMIM:309300 megalocornea 1, X-linked, X-linked recessive megalocornea congenital anterior megalophthalmia GARD:0012648 SCTID:734026006 MGC1 Mgcn isolated congenital megalocornea congenital