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Version 1.16
Latest signed off version: v1.2
(3 Mar 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Literature
- Expert list
- Expert Review Amber
Phenotypes
- Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155
Tags
- Q4_23_promote_green
- Q4_23_NHS_review
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.37
Latest signed off version: v4.0
(22 Mar 2023)
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
- Expert Review Amber
- Literature
- Expert list
Phenotypes
- Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155
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Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- External Ophthalmoplegia Rib and Vertebral Anomalies
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