[…] disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly
[orpha.net]
[…] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely
[malacards.org]
Search Search for a rare disease Spondyloepimetaphyseal dysplasia, Shohat type Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely
[orpha.net]