IFT122

intraflagellar transport 122
OMIM: 606045
PanelMode of inheritanceDetails
7 panels
R-numbers: R100
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia type 1 OMIM:218330, cranioectodermal dysplasia 1 MONDO:0021093
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOECTODERMAL DYSPLASIA 218330
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia type 1 OMIM:218330, cranioectodermal dysplasia 1 MONDO:0021093
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia, Cranioectodermal dysplasia 1, 218330
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia, Cranioectodermal dysplasia 1, 218330
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 1 218330
R-numbers: R257
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 1, 218330, Cranioectodermal dysplasia