Monarch Disease Ontology entry MONDO_0012413 (syndromic microphthalmia type 5) can be described as follows. Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. Also known as: MCOPS5, OTX2 syndromic microphthalmia, microphthalmia, syndromic type 5, syndromic microphthalmia caused by mutation in OTX2, syndromic microphthalmia/anophthalmia due to OTX2 mutation.