ISCA-37500-Loss

15q25.2 recurrent region (LCR B-C, proximal) Loss
PanelMode of inheritanceDetails
1 panel
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
mild to moderate cognitive deficit, Diamond-Blackfan anemia, intellectual disability, 614294, anemia, congenital diaphragmatic hernia, cryptorchidism in males, severe speech and psychomotor delay, mental retardation, postnatal short stature, behavioral problem, mild dysmorphic feature, developmental delay