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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 Green
- PAGE DD-Gene2Phenotype
Phenotypes
- INTELLECTUAL DUSBILITY
- Craniofacial Neurological Cardiovascular and Skeletal Features
- Intellectual disability
Tags
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- INTELLECTUAL DUSBILITY
- Craniofacial Neurological Cardiovascular and Skeletal Features
|
|
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
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
Phenotypes
- Intellectual disability
- dysmorphic features
- Global developmental delay
- Abnormality of the cardiovascular system
- Abnormality of the cerebrum
- Abnormality of the skeletal system
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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
- Turnpenny-Fry syndrome, 618371
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