Search
syndromic microphthalmia 3
Genetics:
- associated with defects in SOX2
Clinical manifestations:
- association of microphthalmia or clinical anophthalmia with anomalies such as microcephaly, short stature, hypogonadotropic hypogonadism, esophageal atresia & neurologic manifestations
General
microphthalmia (nanophthalmos)
Database Correlations
OMIM 206900
References
UniProt :accession P48431