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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- Literature
Phenotypes
- Global developmental delay
- Intellectual disability
- Autistic behavior
- Behavioral abnormality
- Myopathy
- Abnormality of the face
- Hypertelorism
- Seizures
- Disproportionate tall stature
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