PBX1

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, NOT imprinted
Phenotypes
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CAKUT