ORPHA:95433
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Also called Autosomal recessive spinocerebellar ataxia type 3, Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, SCABD, SCAR3
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:95433 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Gait disturbance
- Hearing impairment
- Conjunctival telangiectasia
- Blindness
- Nystagmus
- Optic atrophy