eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | spondyloepimetaphyseal dysplasia with joint laxity |
| Comorbidity | C0265294|metaphyseal dysplasia |
| Sentences | 1 |
| PubMedID- 22152677 | spondyloepimetaphyseal dysplasia with joint laxity (semdjl), leptodactylic (lepto-semdjl) or hall type, is an autosomal-dominant skeletal dysplasia manifesting with short stature, joint laxity with dislocation(s), limb malalignment, and spinal deformity. |
Page: 1