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| Ataxia v2.148 | TELO2 |
Sangavi Sivagnanasundram gene: TELO2 was added gene: TELO2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TELO2 were set to 36797513 Phenotypes for gene: TELO2 were set to TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848 Review for gene: TELO2 was set to GREEN Added comment: PMID 36797513 reports 13 individuals from 17 families with biallelic TELO2 variants presenting with developmental delay, intellectual disability, microcephaly and ataxia. Ataxia is a prominent feature of this condition. Sources: Literature |
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