syndromic microphthalmia 13

A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28.

Signs and symptoms

• Kyphoscoliosis
• Global developmental delay
• Microcornea
• Anteverted ears
• Pendular nystagmus
• Ptosis
• Microphthalmia
• Iris coloboma
• Esotropia
• Intellectual disability

Also known as: MCOPS13; Maine microphthalmos; X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome; colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation