CDKL5

cyclin dependent kinase like 5
OMIM: 300203
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
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
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2
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
Angelman syndrome-like, Epileptic encephalopathy, early infantile, 2
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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Epileptic encephalopathy, early infantile, 2, 300672Angelman syndrome-like, 105830, EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 (EIEE2)