SETD1B

SET domain containing 1B
OMIM: 611055
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder with seizures and language delay, OMIM:619000, Intellectual developmental disorder with seizures and language delay, MONDO:0033559
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
Intellectual developmental disorder with seizures and language delay, OMIM:619000, Intellectual developmental disorder with seizures and language delay, MONDO:0033559