syndromic microphthalmia 9 (Spear syndrome, Matthew-Wood syndrome)

Pathology

• mild facial dysmorphism
• variable malformations of the lung, heart, & diaphragm
• pulmonary agenesis,
• microphthalmia
• diaphragmatic defect

Genetics

• associated with defects in STRA6

More general terms

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

Database

• OMIM: https://mirror.omim.org/entry/601186