Conditions / Eye
syndromic microphthalmia 3
info · Eye
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.
Signs and symptoms
- Optic nerve aplasia
- Bilateral sensorineural hearing impairment
- Global developmental delay
- Anophthalmia
- Hypogonadotropic hypogonadism
- Hypothalamic hamartoma
- Anterior pituitary hypoplasia
- Hypotonia
- Agenesis of corpus callosum
- Generalized hypotonia
Also known as: AEG syndrome; MCOPS3; SOX2 anophthalmia syndrome; anophthalmia clinical with associated anomalies; anophthalmia esophageal genital syndrome