SETBP1

SET binding protein 1
OMIM: 611060
PanelMode of inheritanceDetails
4 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
DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Schinzel-Giedion midface retraction syndrome 269150
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
Schinzel-Giedion midface retraction syndrome, 269150, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (SGMFS)