eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | arthrogryposis multiplex congenita |
| Comorbidity | C0038379|strabismus |
| Sentences | 1 |
| PubMedID- 25173900 | Recently, arthrogryposis with or without strabismus has been shown to be caused by recessive mutations in ecel1, a gene likely involved in neuromuscular junction formation. |
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