Cytosolic large ribosomal subunit 13 deficiency

Synonym(s)
- Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- RPL13 / Ribosomal Protein L13
  16q24.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Ribosomal protein L13
Disease group(s)
- 16.5.3 Disorders of cytosomal ribosomal proteins