chromosome 5q12 deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region.

Signs and symptoms

• Strabismus
• Coarse facial features
• Global developmental delay
• Postnatal growth retardation
• Ptosis
• Visual impairment
• Large forehead
• Astigmatism
• Long philtrum
• Hypermetropia