CUX2

cut like homeobox 2
OMIM: 610648
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Seizures, Epileptic encephalopathy, early infantile, 67, 618141, Infantile onset myoclonic epileptic encephalopathy
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, paternally imprinted (maternal allele expressed)
Phenotypes
Epileptic encephalopathy, early infantile, 67, 618141, Seizures, Intellectual disability, Autistic behavior