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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
infantile cerebellar-retinal degeneration
Summary
- Definition
- A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.
- Super Class
- autosomal recessive disease neurodegenerative disease
External Links
- Disease Ontology
- DOID:0050883
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99798 | Aconitate hydratase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000556 | Retinal dystrophy |
| HP:0001508 | Failure to thrive |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001265 | Hyporeflexia |
| HP:0002500 | Abnormal cerebral white matter morphology |
| HP:0000253 | Progressive microcephaly |
| HP:0007359 | Focal-onset seizure |
| HP:0000639 | Nystagmus |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0011344 | Severe global developmental delay |
