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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Marinesco-Sjogren syndrome
Summary
- Synonym
-
- Garland-Moorhouse syndrome
- Marinesco-Garland syndrome
- Oligophrenic cerebellolenticular degeneration
- hereditary oligophrenic cerebello-lental degeneration
- Definition
- A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0080195
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8IWU6 | Extracellular sulfatase Sulf-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001385 | Hip dysplasia |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature |
| HP:0001618 | Dysphonia |
| HP:0002063 | Rigidity |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002334 | Abnormal cerebellar vermis morphology |
| HP:0002650 | Scoliosis |
| HP:0002673 | Coxa valga |
| HP:0002827 | Hip dislocation |
| HP:0003198 | Myopathy |
