Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.25
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Cerebral malformation
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
- Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
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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
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
- Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
- Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Primary microcephaly, cortical malformation and epileptic encephalopathy
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
- Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
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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
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730
- Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887
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