Version 4.58
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
- Literature
- Expert Review Amber
Phenotypes
- pontocerebellar hypoplasia, MONDO:0020135
- intellectual disability, MONDO:0001071
- seizures
Tags
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.73
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Literature
- Expert Review Amber
Phenotypes
- pontocerebellar hypoplasia, MONDO:0020135
- intellectual disability, MONDO:0001071
- seizures
Tags
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Literature
- Expert Review Amber
Phenotypes
- pontocerebellar hypoplasia, MONDO:0020135
- intellectual disability, MONDO:0001071
- seizures
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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 Amber
- Literature
Phenotypes
- pontocerebellar hypoplasia, MONDO:0020135
- intellectual disability, MONDO:0001071
- seizures
Tags
|