Canavan disease
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.
MONDO:0016399
obsolete amino acid or protein metabolism disease with epilepsy (obsolete MONDO:0016399)
excluded_subClassOf
MONDO:0017686
inborn aminoacylase deficiency
is_a
MONDO:0019046
leukodystrophy
is_a
ACY2 deficiency
exact
Canavan disease
exact
Canavan-VAN Bogaert-Bertrand disease
exact
Von Bogaert-Bertrand disease
related
aminoacylase 2 deficiency
exact
aspartoacylase deficiency
exact
spongy degeneration of central nervous system
exact
spongy degeneration of the brain
exact
spongy degeneration of the central nervous system
related