Genomics England
GMS Panels
Panels
Genes and Entities

RPL13

ribosomal protein L13
OMIM: 113703
PanelMode of inheritanceDetails
1 panel
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728