Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:1187

Lethal ataxia with deafness and optic atrophy

Also called Arts syndrome, Lethal ataxia with hearing loss and optic atrophy

Body system
Inborn errors of metabolism
Inheritance pattern
X-linked recessive
Typical age of onset
Infancy, Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:1187 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Visual impairment
  • Blindness
  • Optic atrophy
  • Muscle weakness
  • Mutism
  • Recurrent infections