eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pontocerebellar hypoplasia |
| Comorbidity | C0014544|epilepsy |
| Sentences | 1 |
| PubMedID- 23623288 | A de novo cask mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of fallot. |
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