OnlineIMD

Cytosolic large ribosomal subunit 10 deficiency

  • Type
    Disease
  • External link(s)
    • IEMbase
  • Gene
    • RPL10 / Ribosomal Protein L10
      • Xq28
      • OMIM
      • GnomAD
      • Ensembl
      • HGNC
      • VMH
      • LOVD
  • Gene product
    • Ribosomal protein L10
  • Disease group(s)
    • 16.5.3    Disorders of cytosomal ribosomal proteins
  • Child entries
    • X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
    • X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome