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