Term Name: GM2 gangliosidosis, AB variant
Synonyms: GM2 Activator Deficiency, 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 )

Relationships
is a type of: GM2 gangliosidosis