Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001276 | Hypertonia |
| HP:0001284 | Areflexia |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001328 | Specific learning disability |
