Conditions / Genetic

isolated microphthalmia 4

info · Genetic · ICD-10: Q11.0

An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22.

Signs and symptoms

  • Microphthalmia
  • Absent testis
  • Postaxial polydactyly
  • Coloboma

Also known as: MCOP4