NOG

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
TARSAL-CARPAL COALITION SYNDROME 186570, MULTIPLE SYNOSTOSES SYNDROME TYPE 1 186500, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 184460, BRACHYDACTYLY TYPE B2 611377, SYMPHALANGISM PROXIMAL SYNDROME 185800
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRACHYDACTYLY TYPE B2, SYMPHALANGISM PROXIMAL SYNDROME, MULTIPLE SYNOSTOSES SYNDROME TYPE 1, TARSAL-CARPAL COALITION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachydactyly, type B2 611377, Multiple synostoses syndrome 1 186500, Stapes ankylosis with broad thumb and toes 184460, Symphalangism, proximal, 1A 185800, Tarsal-carpal coalition syndrome 186570
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Symphalangism, proximal, 1A 185800, Brachydactyly, type B2 611377, Tarsal-carpal coalition syndrome 186570, Stapes ankylosis with broad thumb and toes 184460, Multiple synostoses syndrome 1 186500