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
- Literature
- Expert Review Amber
Phenotypes
- DNA damage repair defect
- microcephaly
- growth deficiency
- severe global developmental delay
- brain malformation
- facial dysmorphism
Tags
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Version 3.95
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
- Literature
- Expert Review Amber
Phenotypes
- Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194
Tags
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
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 Amber
- Literature
Phenotypes
- DNA damage repair defect
- microcephaly
- growth deficiency
- severe global developmental delay
- brain malformation
- facial dysmorphism
Tags
|