microphthalmia syndromic type 9(redirected from pulmonary agenesis, microphthalmia, diaphragmatic defect)
microphthalmia syndromic type 9A rare, clinically heterogeneous disorder of eye formation (OMIM:601186) characterised by anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia, variably accompanied by congenital heart disease (e.g., ventricular septal defect, overriding aorta, vestigial pulmonary artery).
Defects in STRA6, which encodes a putative high-affinity cell surface receptor for the retinol-retinol-binding protein (RBP/RBP4) complex, cause syndromic microphthalmia type 9.
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