Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.

Whittle EF, Chilian M, Karimiani EG, Progri H, Buhas D, Kose M, Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H, Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E, Rahman S, Maroofian R, Yoon WH, Carroll CJ
Genet Med. 2023 Feb;25(2):100332. doi: 10.1016/j.gim.2022.11.001. Epub 2022 Dec 15. PubMed Article

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