SEMA3A

PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SEMA3A-related skeletal dysplasia
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
{Hypogonadotropic hypogonadism 16 with or without anosmia}, OMIM:614897, congenital heart disease, skeletal anomalies