isolated microphthalmia 2

An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24.

Signs and symptoms

• Opacification of the corneal stroma
• Microphthalmia
• Intellectual disability

Also known as: MCOP2