Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
- Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
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Version 5.4
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Removed
- Victorian Clinical Genetics Services
Phenotypes
- Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
- Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Tags
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Version 1.29
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- Radboud University Medical Center, Nijmegen
Phenotypes
- Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
- Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
Tags
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Other
Phenotypes
- Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
- Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
- Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
- Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
Phenotypes
- Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
- Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- Expert Review Green
Phenotypes
- Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
- Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102
- Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915
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