OBO ID: DOID:0050997 |
Term Name: | cerebellar ataxia, mental retardation and dysequlibrium syndrome | Search Ontology: | |
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Synonyms: |
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Definition: | An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (4) | ||
References: |
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Ontology: | Human Disease ( DOID:0050997 ) |
OTHER cerebellar ataxia, mental retardation and dysequlibrium syndrome PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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ATP8A2 | Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 | 615268 | |
CA8 | Cerebellar ataxia, impaired intellectual development and dysequilibrium syndrome 3 | 613227 | |
VLDLR | Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1 | 224050 | |
WDR81 | Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2 | 610185 |
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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AB + MO3-ca8 | standard conditions | Huang et al., 2014 |
PHENOTYPE
No data available
CITATIONS (2)
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