Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.196
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
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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
- Literature
- Expert Review
Phenotypes
- Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 617802
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
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
- Expert Review Green
- Expert Review
- Literature
- Expert Review
Phenotypes
- NDMSCA
- Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802
- # 617802. NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
Tags
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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
- Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802
Tags
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