Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.24
Latest signed off version: v4.23
(1 May 2024)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Oculopharyngeal muscular dystrophy, OMIM:164300
Tags
- nucleotide-repeat-expansion
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0
(1 May 2024)
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review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Oculopharyngeal muscular dystrophy, 164300
- Oculopharyngeal muscular dystrophy
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