ABSTRACT
Infantile cerebral and retinal degeneration with cherry red macular spots, hyperacusis, macrocephaly, storage of GM2 ganglioside in the brain, and deficiency of hexosaminidase A.
Infantile cerebral and retinal degeneration with cherry red macular spots, hyperacusis, macrocephaly, storage of GM2 ganglioside in the brain, and deficiency of hexosaminidase A.