Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2
(2 Mar 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- microcephaly, spasticity, developmental delay
- Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481
- neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490
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Version 1.904
Latest signed off version: v1.92
(21 Aug 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481
- Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490
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Version 2.78
Latest signed off version: v2.2
(13 Feb 2020)
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 Amber
Phenotypes
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies OMIM:617481
- neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490
- NMIHBA
- Complex neurological syndrome
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Version 1.127
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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, hypotonia, and variable brain anomalies, 617481
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