microphthalmia, syndromic, type 9(redirected from Pulmonary agenesis, Microphthalmia, and Diaphragmatic defect)
Also found in: Acronyms.
microphthalmia, syndromic, type 9A clinically heterogeneous disorder (OMIM:601186) of eye formation, ranging from unilateral microphthalmia to bilateral anophthalmia, which may be associated with pulmonary hypoplasia or aplasia.
Caused by defects of STRA6, which encodes a membrane protein involved in retinol metabolism.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.