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Spondyloepimetaphyseal dysplasia, Shohat type

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Name:
Spondyloepimetaphyseal dysplasia, Shohat type
Description:
Spondyloepimetaphyseal dysplasia congenita, Shohat type is 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.
ORPHAcode:
93352
Synonyms:
SEMD, Shohat type
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
DDRGK1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14