17q11.2 recurrent region (includes NF1) Gain
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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