microphthalmia, syndromic, type 9

(redirected from Pulmonary agenesis, Microphthalmia, and Diaphragmatic defect)
Also found in: Acronyms.

microphthalmia, syndromic, type 9

A clinically heterogeneous disorder (OMIM:601186) of eye formation, ranging from unilateral microphthalmia to bilateral anophthalmia, which may be associated with pulmonary hypoplasia or aplasia.

Molecular pathology
Caused by defects of STRA6, which encodes a membrane protein involved in retinol metabolism.
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