eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pontocerebellar hypoplasia type 6 |
| Comorbidity | C0878544|cardiomyopathy |
| Sentences | 1 |
| PubMedID- 26083569 | Neuropathologic characterization of pontocerebellar hypoplasia type 6 associated with cardiomyopathy and hydrops fetalis and severe multisystem respiratory chain deficiency due to novel rars2 mutations. |
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