eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | mandibuloacral dysplasia |
| Comorbidity | C0270960|congenital myopathy |
| Sentences | 1 |
| PubMedID- 21267004 | Type b mandibuloacral dysplasia with congenital myopathy due to homozygous zmpste24 missense mutation. |
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