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
- Expert Review Amber
- Literature
Phenotypes
- Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216
- neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977
Tags
- Q1_24_promote_green
- Q1_24_expert_review
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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
- Expert list
Phenotypes
- Neuropathy, hereditary motor, with myopathic features OMIM:619216
- neuropathy, hereditary motor, with myopathic features MONDO:0030977
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Version 4.10
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
Phenotypes
- Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216
- neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977
Tags
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