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Version 2.241
Latest signed off version: v2.23
(8 Oct 2020)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 23, OMIM:616949
Tags
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.137
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
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review
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Not set
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Sources
- Radboud University Medical Center, Nijmegen
- Expert Review Red
Phenotypes
- Dentinogenesis imperfecta, Shields type II, 125490
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.37
Latest signed off version: v2.2
(13 Feb 2020)
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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
- Dentinogenesis imperfecta, Shields type II, 125490
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.448
Latest signed off version: v2.2
(13 Feb 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 23, 616949
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1371
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Spinocerebellar ataxia, autosomal recessive 23, 616949)
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