PITX1

paired like homeodomain 1
OMIM: 602149
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800, Clubfoot, MONDO:0007342, Liebenberg syndrome, OMIM:186550, Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800, Liebenberg syndrome 186550, Polydactyly
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800, Liebenberg syndrome 186550