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| Ataxia v2.27 | ATG12 |
Sangavi Sivagnanasundram gene: ATG12 was added gene: ATG12 was added to Ataxia. Sources: Literature Mode of inheritance for gene: ATG12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG12 were set to 41895291 Phenotypes for gene: ATG12 were set to ATG12-related neurodevelopmental disorder, MONDO:0700092 Review for gene: ATG12 was set to AMBER Added comment: PMID 41895291 reports two individuals (both from unrelated consanguineous families) with biallelic ATG12 variants presenting with congenital ataxia, developmental delay, intellectual disability, hypotonia, seizures and cerebellar vermis hypoplasia. Sources: Literature |
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