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Canavan disease
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
Pronunciation
/ˈkænəˌvæn dəˈziz/
Categories
autosomal recessive disease
neurometabolic disease
autosomal recessive
leukodystrophy
rare disease