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ENMicrophthalmia, Syndromic 2 (MCOPS2)
Alias:
Oculofaciocardiodental Syndrome
Ofcd Syndrome
Mcops2
Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome
Microphthalmia, Cataracts, Radiculomegaly, and Septal Heart Defects
Oculo-Facio-Cardio-Dental Syndrome
Syndromic Microphthalmia 2
Microphthalmia, Cataracts, Radiculomegaly and Septal Heart Defects
Microphthalmia Cataracts Radiculomegaly and Septal Heart Defects
Oculo Facio Cardio Dental Syndrome
Microphthalmia, Syndromic, Type 2
Syndromic Microphthalmia Type 2
Microphthalmia, Syndromic, 2
Marashi-Gorlin Syndrome
Anop2, Formerly
Maa2, Formerly
Anop2
Maa2
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Microphthalmia, Syndromic 2, also known as oculofaciocardiodental syndrome, is related to microphthalmia, syndromic 1 and cataract, and has symptoms including unspecified visual loss An important gene associated with Microphthalmia, Syndromic 2 is BCOR (BCL6 Corepressor), and among its related pathways/superpathways are Pathways affected in adenoid cystic carcinoma and FBXL10 enhancement of MAP/ERK signaling in diffuse large B-cell lymphoma. Affiliated tissues include heart and eye, and related phenotypes are cataract and abnormality of the dentition
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