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GM1 gangliosidosis type 2
Summary
- Synonym
-
- juvenile GM1 gangliosidosis
- Definition
- A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age.
- Super Class
- GM1 gangliosidosis
External Links
- Disease Ontology
- DOID:0080501
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16278 | Beta-galactosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001982 | Sea-blue histiocytosis |
| HP:0001251 | Ataxia |
| HP:0002673 | Coxa valga |
| HP:0000280 | Coarse facial features |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0001508 | Failure to thrive |
| HP:0000160 | Narrow mouth |
| HP:0002059 | Cerebral atrophy |
| HP:0001290 | Generalized hypotonia |
| HP:0002510 | Spastic tetraplegia |
