Human genes for GM1 gangliosidosis type 1
GM1 gangliosidosis type 1 [DOID:0080502]
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.
Synonyms: GM1 gangliosidosis type 1, DOID:0080502