spondyloepimetaphyseal dysplasia, Shohat type
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.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
SEMD Shohat type
related
SEMD, Shohat type
exact
SEMDSH
related
spondyloepimetaphyseal dysplasia Shohat type
related
spondyloepimetaphyseal dysplasia, Shohat type
exact