Spondyloepimetaphyseal dysplasia, Shohat type

MONDO:0011252

A spondyloepimetaphyseal dysplasia characterized 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.

Also known as: SEMD, Shohat type, spondyloepimetaphyseal dysplasia, Shohat type, SEMD Shohat type, SEMDSH, spondyloepimetaphyseal dysplasia Shohat type

0 clinical trials for this condition and its sub-types, 0 tagged with Spondyloepimetaphyseal dysplasia, Shohat type itself.

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↑ Spondyloepimetaphyseal dysplasia (4)

Including sub-types (0) Tagged with Spondyloepimetaphyseal dysplasia, Shohat type (0)

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