Sandhoff disease, juvenile form
MONDO:0017722Mondo
Findings
No curated finding names Sandhoff disease, juvenile form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced beta-hexosaminidase B activityHPOHP:0033978
- Obligate (100% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- IncoordinationHPOHP:0002311
- Frequent (30% to 79% of cases)
- Proximal muscle weaknessHPOHP:0003701
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Occasional (5% to 29% of cases)
Show the remaining 14
- AcroparesthesiaHPOHP:0031006
- Occasional (5% to 29% of cases)
- Cerebral atrophyHPOHP:0002059
- Occasional (5% to 29% of cases)
- ConstipationHPOHP:0002019
- Occasional (5% to 29% of cases)
- DiarrheaHPOHP:0002014
- Occasional (5% to 29% of cases)
- Distal muscle weaknessHPOHP:0002460
- Occasional (5% to 29% of cases)
- DysphagiaHPOHP:0002015
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: Sandhoff disease, juvenile form
- Also called
- Hexosaminidases A and B deficiency, juvenile formjuvenile GM2 gangliosidosis 0 variant