/syndromic microphthalmia type 5

syndromic microphthalmia type 5

Rare Disease

MONDO:0012413

Also Known As

MCOPS5OTX2 syndromic microphthalmiamicrophthalmia, syndromic type 5syndromic microphthalmia caused by mutation in OTX2syndromic microphthalmia type 5syndromic microphthalmia/anophthalmia due to OTX2 mutationOTX2-related eye disordersmicrophthalmia syndromic 5microphthalmia, syndromic 5retinal dystrophy, early-onset, with or without pituitary dysfunction

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.