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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550
- calvarial doughnut lesions-bone fragility syndrome, MONDO:0007470
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550
- calvarial doughnut lesions-bone fragility syndrome, MONDO:0007470
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