Severe Canavan disease

Orpha code: 314911OMIM code: 271900

Definition

Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.

Disease data
Classification

Clinical subtype

Synonyms
Infantile Canavan disease
Choroba Canavana noworodków
Dziecięca choroba Canavana
Neonatal Canavan disease
ORPHA code
314911
OMIM code
271900
ICD10 code
E75.2
ICD11 code
-

No additional description.

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