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GM1 gangliosidosis type 3
Summary
- Synonym
-
- adult-onset GM1 gangliosidosis
- Definition
- A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years.
- Super Class
- GM1 gangliosidosis
External Links
- Disease Ontology
- DOID:0080489
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16278 | Beta-galactosidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000750 | Delayed speech and language development |
| HP:0002808 | Kyphosis |
| HP:0011463 | Childhood onset |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0001332 | Dystonia |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0001250 | Seizure |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0001744 | Splenomegaly |
