has material basis in germline mutation in PAX6 foveal hypoplasia 1 https://www.malacards.org/card/foveal_hypoplasia_1 O Donnell Pappas syndrome DOID:0070530 foveal hypoplasia caused by mutation in PAX6 UMLS:C3805604 foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts foveal hypoplasia 1 GARD:0024566 PAX6 foveal hypoplasia MONDO:0007628 FVH1 Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene. OMIM:136520 MEDGEN:811934 foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract foveal hypoplasia type 1 foveal hypoplasia, presenile cataract foveal hypoplasia PAX6-related ocular dysgenesis