Alexander disease type I

Definition

Alexander disease type I (AxD type I) is 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.

Also known as AxD type I — per MONDO

Also identified as

• Orphanet 363717 per MONDO
• UMLS C5769581 per MONDO