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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
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
- Other
- Literature
Phenotypes
- Intellectual disability, MONDO:0001071
- Abnormality of the face
- Failure to thrive
- Abnormal heart morphology
Tags
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