TBX4

PanelMode of inheritanceDetails
5 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
SMALL PATELLA SYNDROME 147891
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SMALL PATELLA SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ischiocoxopodopatellar syndrome 147891
R-numbers: R188
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ischiocoxopodopatellar syndrome, 147891, Small patella syndrome, SPS, Idiopathic pulmonary arterial hypertension, IPAH, Heritable pulmonary arterial hypertension, HPAH, Pulmonary arterial hypertension
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ischiocoxopodopatellar syndrome 147891, Ischiocoxopodopatellar syndrome 147891