label: GM2-Gangliosidosis, AB Variant
label_lc: gm2-gangliosidosis, ab variant
description: An autosomal recessive lysosomal storage disease caused by mutation(s) in the GM2A gene, encoding ganglioside GM2 activator. It is characterized by GM2-ganglioside accumulation in tissues resulting in hypotonia, cherry-red macular spots, and neurocognitive dysfunction.