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

More general terms

• microphthalmia (nanophthalmos)

Database

• OMIM: https://mirror.omim.org/entry/206900