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syndromic microphthalmia 3
Summary
- Synonym
-
- AEG syndrome
- MCOPS3
- SOX2 anophthalmia syndrome
- anophthalmia clinical with associated anomalies
- anophthalmia esophageal genital syndrome
- anophthalmia microphthalmia esophageal atresia
- anophthalmia/microphthalmia-esophageal atresia syndrome
- microphthalmia and esophageal atresia syndrome
- syndromic microphthalmia type 3
- Definition
- A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33.
- Super Class
- autosomal dominant disease syndromic microphthalmia
External Links
- Disease Ontology
- DOID:0111801
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
