CSNK1G1

casein kinase 1 gamma 1
OMIM: 606274
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
severe non-syndromic early-onset epilepsy, Global developmental delay, Intellectual disability, Autism, Seizures, Abnormality of the face, Abnormality of limbs