short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly
[orpha.net]
short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.EpidemiologyThe
[malacards.org]
[…] for a rare disease Spondyloepimetaphyseal dysplasia, Shohat type Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate
[orpha.net]