syndromic microphthalmia 6

Genetics

• associated with defects in BMP4

Clinical manifestations

• microphthalmia/anophthalmia
• facial, genital,skeletal, neurologic & endocrine anomalies
• pituitary anomalies
• digit developmental anomalies

More general terms

• genetic syndrome (multisystem disorder)
• microphthalmia (nanophthalmos)

Database

• OMIM: https://mirror.omim.org/entry/607932