ISCA-37486-Loss

16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
developmental delay, 613444, obesity
R-numbers: R149
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
developmental delay, 613444, obesity