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Spondylometaphyseal dysplasia, Sedaghatian type
rareSpondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
- Identifiers
- MONDO:0009593 OMIM:250220Orphanet:93317
- Causal genes
- GPX4
- Part of
- Inherited glutathione metabolism diseaseSevere spondylodysplastic dysplasiaSpondylometaphyseal dysplasia
- Also known as
- lethal metaphyseal dysplasia · SMDS · spondylometaphyseal dysplasia Sedaghatian type
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