Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172
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review
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Not set
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- No OMIM phenotype
- Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- No OMIM phenotype
- Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
Unknown
|
Sources
Phenotypes
- No OMIM phenotype
- Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.6
Latest signed off version: v3.5
(1 May 2024)
Component of the following Super Panels:
Cystic renal disease
Paediatric disorders
Rare multisystem ciliopathy Super panel
Renal superpanel - broad
Renal superpanel - narrow
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review
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- No OMIM phenotype
- Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
|