ring chromosome 14 syndrome

A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure.

Signs and symptoms

• Focal impaired awareness seizure
• Blepharophimosis
• Depressed nasal ridge
• Delayed speech and language development
• Generalized-onset seizure
• Global developmental delay
• Almond-shaped palpebral fissure
• Focal-onset seizure
• Poor speech
• Epicanthus

Also known as: r(14) syndrome; r14 syndrome; ring 14 syndrome