FBN2

PanelMode of inheritanceDetails
6 panels
R-numbers: R83
Signed-off version 4.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Contractural arachnodactyly, congenital OMIM:121050, congenital contractural arachnodactyly MONDO:0007363
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Contractural arachnodactyly, congenital OMIM:121050, congenital contractural arachnodactyly MONDO:0007363
R-numbers: R101
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Contractural arachnodactyly, congenital, 121050
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Contractural arachnodactyly, congenital OMIM:121050, congenital contractural arachnodactyly MONDO:0007363
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Contractural arachnodactyly, congenital OMIM:121050, congenital contractural arachnodactyly MONDO:0007363
R-numbers: R125
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Congenital Contractural Arachnodactyly, Contractural arachnodactyly, congenital, 121050