22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
diaphragmatic hernia, mild skeletal abnormalities, uterine didelphys, 611867, DiGeorge syndrome (DGS), clinodactyly, velocardiofacial syndrome, ADHD, Goldenhar syndrome, prematurity, developmental delay, micropephaly, cardiovascular defects, Seizures, global developmental delay, language delay, prenatal and postnatal growth delay, Hyptonia