Canavan Disease: Phenotypic Spectrum

PhenotypeProportion 1Comments
Typical Canavan disease85%-90%Infantile onset: hypotonia, macrocephaly, nystagmus / visual impairment, poor head control, significant developmental delay, followed by regression
Atypical Canavan disease10%-15%Clinical spectrum: onset from infancy to childhood or adolescence, milder developmental delay, with or without regression

For synonyms and outdated names see Nomenclature.

1.

From: Canavan Disease

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