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Spondyloepimetaphyseal dysplasia, sponastrime type
rareA rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.
- Identifiers
- MONDO:0010068 OMIM:271510Orphanet:93357
- Causal genes
- TONSL
- Part of
- Spondyloepimetaphyseal dysplasia
- Also known as
- short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation · sponastrime dysplasia · spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia · spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia · spondyloepimetaphyseal dysplasia Sponastrime type
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