Human genes for Tay-Sachs disease
Tay-Sachs disease [DOID:3320]
A GM2 gangliosidosis that is characterized 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.
Synonyms: Tay-Sachs disease, DOID:3320, TaySachs disease, Tay-Sachs disorder, Tay-Sachs syndrome ...
Linkouts: OMIM