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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- ClinGen
Phenotypes
- seizures
- intellectual disability
- Chiari malformations
- cerebellar ectopia
- 611913
- mental retardation
- Macrocephaly
- developmental delay
- autism spectrum disorder (ASD)
- vertebral anomalies
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