Term Name: | GM1 gangliosidosis type 1 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080502] ( DOID:0080502 ) |