Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0
(1 May 2024)
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
- Literature
Phenotypes
- Hypotonia
- Global developmental delay
- Intellectual disability
- Axonal neuropathy
- Ataxia
- Abnormal brain imaging
- Kyphosis
- Scoliosis
- Tremor
- Respiratory distress
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Version 4.8
Latest signed off version: v4.0
(1 May 2024)
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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
- Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, OMIM:619099
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