CNKSR2

connector enhancer of kinase suppressor of Ras 2
OMIM: 300724
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked, syndromic, Houge type 301008
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
INTELLECTUAL DISABILITY WITH EPILEPSY, X-linked intellectual disability, XLID