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Canavan disease
What is Canavan disease?
Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
Other condition names
ACY2 deficiency
Aminoacylase 2 deficiency
Aspartoacylase deficiency
Spongy degeneration of the brain
Inheritance type
Autosomal recessive
Age of Onset
Childhood
Infancy
Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on
"https://www.orphadata.com"
. Data version 1.3.16 / 4.1.7.