Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Literature
- Expert Review Amber
Phenotypes
- Parenti-Mignot neurodevelopmental syndrome, OMIM:610771
- Intellectual disability, MONDO:0001071
- Epilepsy, MONDO:0005027
Tags
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Version 3.79
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- DD-Gene2Phenotype
Phenotypes
- CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- OMIM:610771
- Intellectual disability, MONDO:0001071
- Epilepsy, MONDO:0005027
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Literature
Phenotypes
- Parenti-Mignot neurodevelopmental syndrome, OMIM:610771
- Intellectual disability, MONDO:0001071
- Epilepsy, MONDO:0005027
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