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GM1 gangliosidosis type 1
Summary
- 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.
- Super Class
- GM1 gangliosidosis
External Links
- Disease Ontology
- DOID:0080502
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16278 | Beta-galactosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000316 | Hypertelorism |
| HP:0000457 | Depressed nasal ridge |
| HP:0000470 | Short neck |
| HP:0000900 | Thickened ribs |
| HP:0000998 | Hypertrichosis |
| HP:0001071 | Angiokeratoma corporis diffusum |
| HP:0001252 | Hypotonia |
| HP:0001276 | Hypertonia |
| HP:0001387 | Joint stiffness |
| HP:0001522 | Death in infancy |
