Sandhoff disease, infantile form
MONDO:0017721Mondo
Findings
No curated finding names Sandhoff disease, infantile form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
23 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)
- Axial hypotoniaHPOHP:0008936
- Very frequent (80% to 99% of cases)
- Developmental regressionHPOHP:0002376
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Abnormal thalamic MRI signal intensityHPOHP:0012696
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- Cherry red spot of the maculaHPOHP:0010729
- Frequent (30% to 79% of cases)
- CNS hypomyelinationHPOHP:0003429
- Frequent (30% to 79% of cases)
- Exaggerated startle responseHPOHP:0002267
- Frequent (30% to 79% of cases)
Show the remaining 11
- Hyperactive patellar reflexHPOHP:0007083
- Frequent (30% to 79% of cases)
- Myoclonic seizureHPOHP:0032794
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- Frequent (30% to 79% of cases)
- Progressive macrocephalyHPOHP:0004481
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- Blue nevusHPOHP:0100814
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: Sandhoff disease, infantile form
- Also called
- Hexosaminidases A and B deficiency, infantile forminfantile GM2 gangliosidosis 0 variant