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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Phenotype, genotype and long-term prognosis of 40 Chinese patients with isobutyryl-CoA dehydrogenase deficiency and a review of variant spectra in ACAD8

Fig. 2

Overview of the ACAD8 variants contributed to 81 IBDD patients. A ACAD8 variants in cases and different populations. B The genotypes and relative allelic frequency in IBDD patients. ho homozygous; RF relative allelic frequency in the 81 patients’ group; Refs references. Note Cases 1–55 were reported in the Asian population; Cases 56–81 were reported in the Caucasian population

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172