Version 4.64
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
- neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.332
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
- neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
- neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269
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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
- Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
- neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269
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