ORPHA:100
Ataxia-telangiectasia
Also called Louis-Bar syndrome
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood, Infancy
- Estimated prevalence
- 1-5 / 10 000 (Norway)
- Rarity class
- 1-5 / 10 000
ORPHA:100 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Polycystic ovaries
- Strabismus
- Abnormality of eye movement
- Nystagmus
- Delayed puberty
- Ataxia