STXBP1

syntaxin binding protein 1
OMIM: 602926
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 612164, ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 4
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, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 4, 612164 (2), ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER