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| Genetic Epilepsy v0.1326 | EXOSC8 | Zornitza Stark Marked gene: EXOSC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1326 | EXOSC8 | Zornitza Stark Gene: exosc8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1326 | EXOSC8 |
Zornitza Stark gene: EXOSC8 was added gene: EXOSC8 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC8 were set to 24989451; 29656927; 34210538 Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, MIM#616081 Review for gene: EXOSC8 was set to RED Added comment: Typical clinical presentation is with severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants show delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination. Single family reported with seizures as part of the phenotype. Sources: Literature |
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