CDC42

cell division cycle 42
OMIM: 116952
PanelMode of inheritanceDetails
3 panels
R-numbers: R90
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
616737 Takenouchi-Kosaki syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Takenouchi-Kosaki syndrome, 616737, Intellectual disability
R-numbers: R15
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neonatal-onset cytopaenia with dyshaematopoiesis, autoinflammation, rash, HLH