eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | gracile syndrome |
| Comorbidity | C0001125|lactic acidosis |
| Sentences | 1 |
| PubMedID- 24385928 | Our patient shared some of the clinical features of previously reported complex iii deficient patients such as tubulopathy and primary lactic acidosis with bcs1l patients [9] but only identification of other pathogenic uqcc2 mutations in unrelated individuals will provide a complete picture of the clinical spectrum of patients with uqcc2 dysfunction. |
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