Spondyloepimetaphyseal dysplasia, aggrecan type (Q88349)
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Spondyloepimetaphyseal dysplasia, aggrecan type is a form of skeletal dysplasia characterised by severe short stature, facial dysmorphism and characteristic radiographic findings.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1133152894 |
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| English | Spondyloepimetaphyseal dysplasia, aggrecan type |
Spondyloepimetaphyseal dysplasia, aggrecan type is a form of skeletal dysplasia characterised by severe short stature, facial dysmorphism and characteristic radiographic findings. |
