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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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
- failure to thrive
- ADHD
- heart defects
- speech disturbances
- hypernasal speech
- hearing impariment
- abnormal behaviour
- developmental delay
- hypotonia
- micro- or macrocephaly
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