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Spondylometaphyseal dysplasia, Sedaghatian type

Disease Export to PDF
Name:
Spondylometaphyseal dysplasia, Sedaghatian type
Description:
A rare neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
ORPHAcode:
93317
XREF(s):
Orphanet
ICD-10
OMIM
MeSH
Analyte(s):
GPX4
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14