TBX4

PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SMALL PATELLA SYNDROME 147891
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
R-numbers: R188
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891