Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 5 of 5 for Sandhoff "disease," infantile form
  1. Sandhoff disease 
    ... first appear: infantile, juvenile, and adult.The infantile form of Sandhoff disease is the most common and severe form and ... organomegaly), or bone abnormalities. Children with the infantile form of Sandhoff disease usually live only into early childhood.The juvenile ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  2. HEXB gene 
    ... variants in the HEXB gene cause the severe form of Sandhoff disease, which becomes apparent in infancy. These variants prevent ... genetic changes are responsible for the less severe forms of Sandhoff disease, which appear later in life. More About This ...
    https://medlineplus.gov/genetics/gene/hexb - Genetics
  3. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    National Institute of Neurological Disorders and Stroke ... Leukodystrophies/Specifics ... Leukodystrophies ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  4. HEXA gene 
    ... Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol ...
    https://medlineplus.gov/genetics/gene/hexa - Genetics
  5. GM2 activator deficiency 
    ... with GM2 activator deficiency have the acute infantile form of the disease. Signs and symptoms of acute ... an eye examination, is characteristic of the infantile form of this disorder. Infants with acute infantile GM2 ...
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency - Genetics