microphthalmia with coloboma 5

Genetics

• associated with defects in SHH

Clinical manifestations

• microphthalmia
• coloboma

More general terms

• microphthalmia (nanophthalmos)

Additional terms

• coloboma (ocular coloboma, uveoretinal coloboma, coloboma of iris, choroid & retina)

Database

• OMIM: https://mirror.omim.org/entry/611638