SART3

squamous cell carcinoma antigen recognized by T-cells 3
OMIM: 611684
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON)
R-numbers: R21, R412
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY Gonadal dysgenesis