| Metadata | |
|---|---|
| ID | DOID:0080502 |
| Name | GM1 gangliosidosis type 1 |
| 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. https://www.ncbi.nlm.nih.gov/books/NBK164500/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a GM1 gangliosidosis |