Term Name: | GM2 gangliosidosis, AB variant |
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Synonyms: | Tay-Sachs disease AB variant, Tay-Sachs disease, variant AB |
Definition: | A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. |
Ontology: | Human Disease [DOID:4795] ( DOID:4795 ) |