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| Ataxia v2.130 | OGDHL | Sangavi Sivagnanasundram Classified gene: OGDHL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.130 | OGDHL | Sangavi Sivagnanasundram Gene: ogdhl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.129 | OGDHL |
Sangavi Sivagnanasundram gene: OGDHL was added gene: OGDHL was added to Ataxia. Sources: Literature Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGDHL were set to 34800363 Phenotypes for gene: OGDHL were set to Yoon-Bellen neurodevelopmental syndrome, MONDO:0859221 Review for gene: OGDHL was set to GREEN Added comment: Affected individuals with biallelic mutations in OGDHL present with gait ataxia, epilepsy, hearing loss, visual impairment, and developmental delay. 4 of 8 families reported ataxia as a presenting phenotype. Functional studies in Drosophila and human neuronal cells demonstrate loss of OGDHL function. Sources: Literature |
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