Level 2: Viral research
Version 1.141
|
review
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Not set
|
Sources
Phenotypes
- {Encephalopathy, acute, infection-induced, susceptibility to, 9} 618426
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.66
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426
- encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Acute Febrile Encephalopathy 618426
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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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426
- encephalopathy, acute, infection-induced, susceptibility to, 9, MONDO:0032742
|
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
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
- Expert list
Phenotypes
- developmental delay
- intellectual disability
- epileptic encephalopathy
- developmental regression
- microcephaly
- {Encephalopathy, acute, infection-induced, susceptibility to, 9}, 618426
|