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syndromic microphthalmia 5
Genetics:
- associated with defects in OTX2
Clinical manifestations:
- unilateral or bilateral microphthalmia/clinical anophthalmia
- variable additional features including:
a) coloboma
b) microcornea
c) cataracts
d) retinal dystrophy
e) hypoplasia or agenesis of the optic nerve
f) agenesis of the corpus callosum
g) developmental delay
h) joint laxity
i) hypotonia
j) seizures
General
genetic syndrome (multisystem disorder)
microphthalmia (nanophthalmos)
Database Correlations
OMIM 610125
References
OMIM :accession 601186