INTU

inturned planar cell polarity protein
OMIM: 610621
PanelMode of inheritanceDetails
2 panels
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Short-rib thoracic dysplasia 20 with polydactyly, 617925
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925, ?Orofaciodigital syndrome XVII, OMIM:617926