ORPHA:141
Canavan disease
Also called ACY2 deficiency, Aminoacylase 2 deficiency, Aspartoacylase deficiency, Spongy degeneration of the brain
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood, Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:141 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Optic atrophy
- Global developmental delay
- EEG abnormality
- Reduced consciousness
- Feeding difficulties in infancy
- Cognitive impairment