IFT52

intraflagellar transport 52
OMIM: 617094
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 16 with or without polydactyly, 617102
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 16 WITH OR WITHOUT POLYDACTYLY, SRTD16 #617102