Syndromic microphthalmia type 5

Definition

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, microphthalmia, syndromic type 5, OTX2 syndromic microphthalmia, syndromic microphthalmia caused by mutation in OTX2, syndromic microphthalmia type 5, syndromic microphthalmia/anophthalmia due to OTX2 mutation — per MONDO

Also identified as

• DOID 0111806 per MONDO
• MESH C566441 per MONDO
• OMIM 610125 per MONDO
• Orphanet 178364 per MONDO
• SCTID 718761007 per MONDO
• UMLS C1864690 per MONDO