microphthalmia, syndromic, type 3

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microphthalmia, syndromic, type 3

A rare condition (OMIM:206900) characterised by uni- or bilateral anophthalmia or microphthalmia, and oesophageal atresia with tracho-oesophageal fistula.
 
Molecular pathology Defects
Caused by defects of SOX2, which encodes a member of the SOX (SRY-related HMG-box) family of transcription factors that regulates embryonic development and determines cell fate.