Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Homepage > Rare diseases > Search
Search for a rare disease
Sandhoff disease, juvenile form
Suggest an update
Your message has been sent
Your message has not been sent. Please contact an administrator.
ORPHA:309162
Classification level: Subtype of disorder
Synonym(s):
- Beta-hexosaminidase subunit beta deficiency, juvenile form
- GM2 gangliosidosis, Sandhoff variant, juvenile form
- GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form
Prevalence: -
Inheritance: Autosomal recessive
Age of onset: Adolescent, Childhood
Summary
This disease is described under Sandhoff disease
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
General public
Article for general public
Guidelines
Emergency guidelines
Clinical practice guidelines
Disease review articles
Clinical genetics review
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (59)
- Clinical trial(s) (5)
- Biobank(s) (12)
- Registry(ies) (28)
- Network of experts (9)
Newborn screening
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.