IFT43

intraflagellar transport 43
OMIM: 614068
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOECTODERMAL DYSPLASIA TYPE 3 614099
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOECTODERMAL DYSPLASIA TYPE 3
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 3, 614099, Sensenbrenner syndrome, Short-rib thoracic dysplasia 18 with polydactyly, 617866
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 3, 614099, Sensenbrenner syndrome, Short-rib thoracic dysplasia 18 with polydactyly, 617866
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 18 with polydactyly - 617866, ?Cranioectodermal dysplasia 3 - 614099
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cranioectodermal dysplasia 3, 614099, Sensenbrenner syndrome, Short-rib thoracic dysplasia 18 with polydactyly, 617866