Tay-Sachs disease MTHICD9_2006:330.1 NCI:C85184 GM2 gangliosidosis, type 1 MESH:D013661 DOID:3320 GARD:7737 A GM2 gangliosidosis that is characterized the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. UMLS_CUI:C0039373 hexosaminidase A deficiency disease_ontology OMIM mapping confirmed by DO. [SN]. CSP2005:1849-8690 OMIM:272800 ICD10CM:E75.02 GM2 gangliosidosis