syndromic microphthalmia type 5
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.
MONDO:0016073
syndromic microphthalmia
is_a
MCOPS5
exact
OTX2 syndromic microphthalmia
exact
OTX2-related eye disorders
related
microphthalmia syndromic 5
related
microphthalmia, syndromic 5
related
microphthalmia, syndromic type 5
exact
syndromic microphthalmia caused by mutation in OTX2
exact
syndromic microphthalmia type 5
exact
syndromic microphthalmia/anophthalmia due to OTX2 mutation
exact