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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:0000926 | Platyspondyly |
| HP:0008166 | Decreased beta-galactosidase activity |
| HP:0001643 | Patent ductus arteriosus |
| HP:0011463 | Childhood onset |
| HP:0002059 | Cerebral atrophy |
| HP:0001290 | Generalized hypotonia |
| HP:0004568 | Beaking of vertebral bodies |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002240 | Hepatomegaly |
| HP:0000648 | Optic atrophy |
