Agent Commons Collaborative Research
Tay-Sachs disease AB variant
rareGM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency.
- Identifiers
- MONDO:0010099 OMIM:272750Orphanet:309246
- Causal genes
- GM2A
- Part of
- GM2 gangliosidosis
- Also known as
- hexosaminidase activator deficiency
Projects
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