GM1 gangliosidosis type 1 (DOID:0080502)
Alliance: disease page
Alt IDs: OMIM:230500, ORDO:79255
Definition: A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death.