MeSH Browser

MeSH Supplementary: Microphthalmia, syndromic 2
Unique ID: C537465
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537465
Entry Term(s): Cataracts, microphthalmia, radiculomegaly and septal heart defects; MCOPS2; Marashi Gorlin syndrome; Microphthalmia, cataracts, radiculomegaly, and septal heart defects; OFCD Syndrome; Oculo facio cardio dental syndrome; Oculofaciocardiodental syndrome
Registry Number: 0
Heading Mapped to: Cataract / *congenital; *Heart Septal Defects; *Microphthalmos
Frequency: 29
Note: An X-linked dominant disorder characterized by congenital CATARACT, and microphthalmos and/or microcornea, septate nasal cartilage, cardiac septal defects, and dental abnormalities including including delayed or persistent primary dentition with multiple unerupted teeth, radiculomegaly, and absent, duplicated, or fused teeth. Skeletal abnormalities, CLEFT PALATE, and toe SYNDACTYLY may also occur. Mutations in the BCOR gene have been identified. OMIM: 300166
Date of Entry: 2010/08/25
Revision Date: 2015/09/27

Microphthalmia, syndromic 2 MeSH Supplementary Concept Data 2024