Spondyloepimetaphyseal dysplasia, Shohat type (Q88348)
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Spondyloepimetaphyseal dysplasia congenita (SEMD), Shohat type is a form of SEMD characterised by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1389783101 |
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| English | Spondyloepimetaphyseal dysplasia, Shohat type |
Spondyloepimetaphyseal dysplasia congenita (SEMD), Shohat type is a form of SEMD characterised by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. |
