GM2-Gangliosidosis, AB Variant

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Tay-Sachs Disease, AB Variant