syndromic microphthalmia 3 (DOID:0111801)
Alliance: disease page
Synonyms: AEG syndrome; anophthalmia clinical with associated anomalies; anophthalmia esophageal genital syndrome; anophthalmia microphthalmia esophageal atresia; anophthalmia/microphthalmia-esophageal atresia syndrome; MCOPS3; microphthalmia and esophageal atresia syndrome; SOX2 anophthalmia syndrome; syndromic microphthalmia type 3
Alt IDs: OMIM:206900, MESH:C565948, ORDO:77298, UMLS_CUI:C1859773
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.