Version 2.79
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Postaxial hand polydactyly
- Postaxial foot polydactyly
- Common atrium
- Atrioventricular canal defect
- Narrow chest
- Abnormality of the teeth
- Intellectual disability
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Literature
Phenotypes
- Postaxial hand polydactyly
- Postaxial foot polydactyly
- Common atrium
- Atrioventricular canal defect
- Narrow chest
- Abnormality of the teeth
- Intellectual disability
|