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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:0002079 | Hypoplasia of the corpus callosum |
| HP:0000648 | Optic atrophy |
| HP:0010864 | Intellectual disability, severe |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0003593 | Infantile onset |
| HP:0001272 | Cerebellar atrophy |
| HP:0000252 | Microcephaly |
| HP:0002305 | Athetosis |
| HP:0001252 | Hypotonia |
| HP:0007108 | Demyelinating peripheral neuropathy |
