IFT81

intraflagellar transport 81
OMIM: 605489
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 19 with or without polydactyly, OMIM:617895, Short-rib thoracic dysplasia 19 with or without polydactyly, MONDO:0033485
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 19 with or without polydactyly, 617895
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 19 with or without polydactyly -617895, Short-Rib Polydactyly Syndrome