Genomics England
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Genes and Entities

ISCA-37431-Gain

17q11.2 recurrent region (includes NF1) Gain
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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