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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- London South GLH
- Expert Review Green
- UCL
Phenotypes
- Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
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Version 4.1
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
- Expert list
Phenotypes
- Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
- Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695
- Split-foot malformation with mesoaxial polydactyly, OMIM:616890
- Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816
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Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760
- Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695
- Split-foot malformation with mesoaxial polydactyly, OMIM:616890
- Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816
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