Human genes for syndromic microphthalmia 3
Syndromic microphthalmia 3 [DOID:0111801]
A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in SOX2 on chromosome 3q26.33.
Synonyms: syndromic microphthalmia 3, DOID:0111801, AEG syndrome, anophthalmia clinical with associated anomalies, anophthalmia esophageal genital syndrome ...