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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Rare severe autosomal-recessive developmental and epileptic encephalopathy
- Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Literature
Phenotypes
- Developmental epileptic encephalopathy with hypomyelination and brain
- Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 atrophy
- Intellectual disability
- Severe developmental delay,
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Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Developmental epileptic encephalopathy with hypomyelination and brain atrophy
- Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890
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