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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.555
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
- early onset of baldness (15 years old), dental enamel hypoplasia and minor facial dysmorphism
- Chromosome 17q11.2 deletion syndrome, 1.4Mb
- DD/ID, facial dysmorphisms, and seizures
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