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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- ClinGen
Phenotypes
- 613215
- Chromosome 17p13.3 duplication syndrome
- variable psychomotor delay and dysmorphic features
- 17q11.2 microduplication syndrome
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