Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Cerebral malformation
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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
- Developmental delay
- Intellectual disability
- Neurodegeneration
- Epilepsy
- Facial dysmorphism
- Congenital anomalies
Tags
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- Craniofacial with neurodevelopment disorders
Tags
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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- craniosynostosis, MONDO:0015469
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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 Green
- DD-Gene2Phenotype
Phenotypes
- Craniofacial with neurodevelopment disorders
Tags
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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
- Expert Review Green
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
Phenotypes
- Developmental delay
- Intellectual disability
- Neurodegeneration
- Epilepsy
- Facial dysmorphism
- Congenital anomalies
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0
(1 May 2024)
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
|
Sources
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Developmental delay
- Intellectual disability
- Neurodegeneration
- Epilepsy
- Facial dysmorphism
- Congenital anomalies
Tags
|