KCNA4

Clinical Characteristics

Mutations in KCNA4 may cause the following health conditions:

  • Intellectual disability
  • Growth retardation and microcephaly
  • Cataract
  • Glaucoma
  • Dystonia
  • Dysarthria
  • Severe linguistic delay
  • Atrophic charges in putamena
  • Swelling of caudate head
  • Decreased signal intensities in basal ganglia