eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cockayne syndrome |
| Comorbidity | C0221032|generalized lipodystrophy |
| Sentences | 1 |
| PubMedID- 26122271 | The two siblings who presented with generalized lipodystrophy were diagnosed with an atypical progeroid syndrome with a p.d136h mutation in the lmna gene (nm_005572). |
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