Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.478
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- London North GLH
Phenotypes
- Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 618124
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
|
Version 4.11
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, 618124
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