BBS12

Bardet-Biedl syndrome 12
OMIM: 610683
PanelMode of inheritanceDetails
11 panels
R-numbers: R107
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet Biedl syndrome 12, 615989
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 12 209900
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 12
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 12, 209900, BARDET-BIEDL SYNDROME TYPE 12 (BBS12)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet Biedl syndrome 12, 615989
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet Biedl syndrome 12
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet Biedl syndrome 12
R-numbers: R32
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Bardet-Biedl syndrome 12, 615989
R-numbers: R149
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
obesity, Bardet-Biedl syndrome 12, OMIM:615989
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet Biedl syndrome 12, 615989
R-numbers: R257
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Bardet-Biedl syndrome 12 615989