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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 Amber
- Literature
Phenotypes
- Neurodevelopmental delay
- Postnatal microcephaly
- Failure to thrive
- Gastrointestinal symptoms
- Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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
- ATP9A-related neurodevelopmental disorder
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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
- Expert Review Green
- Other
- Literature
Phenotypes
- Global developmental delay
- Intellectual disability
- Postnatal microcephaly
- Failure to thrive
- Abnormality of the abdomen
- Neurodevelopmental disorder with poor growth and behavioral abnormalities, OMIM:620242
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