Alexander disease type I
Engelsk navn: Alexander disease type I
Engelske synonym: AxD type I
Definisjon
An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.
Fra Orphanet
ORPHA: 363717
Klassifiseringsnivå: Subtype of disorder
ICD-10: E75.2