Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Moyamoya disease MONDO:0016820
- Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672
- intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864
Tags
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Version 0.36
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review
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Not set
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Sources
- Expert Review Amber
- SFARI
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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
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CNOT3 syndrome
- Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
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Version 4.3
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
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
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, imprinted status unknown
|
Sources
- NHS GMS
- Victorian Clinical Genetics Services
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- CNOT3 syndrome
- intellectual disability, global developmental delay
- Intellectual developmental disorder with speech delay, autism, and dysmorphic facies, 618672
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Version 1.184
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
|