BMPR1B

bone morphogenetic protein receptor type 1B
OMIM: 603248
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BRACHYDACTYLY TYPE A2 112600
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BRACHYDACTYLY TYPE A2
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acromesomelic dysplasia, Demirhan type, 609441, Brachydactyly, type A1, D 616849, Brachydactyly, type A2, 112600
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Brachydactyly, type A1, D 616849, Brachydactyly, type A2 112600, Acromesomelic dysplasia, Demirhan type 609441