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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
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16278 | Beta-galactosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007281 | Developmental stagnation |
| HP:0001622 | Premature birth |
| HP:0010808 | Protruding tongue |
| HP:0002015 | Dysphagia |
| HP:0001288 | Gait disturbance |
| HP:0002753 | Thin bony cortex |
| HP:0012368 | Flat face |
| HP:0001744 | Splenomegaly |
| HP:0008479 | Hypoplastic vertebral bodies |
| HP:0000943 | Dysostosis multiplex |
