Term Name:	syndromic microphthalmia 3
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
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.
Ontology:	Human Disease [DOID:0111801]   ( DOID:0111801 )