Cytosolic small ribosomal subunit 23 deficiency

Synonym(s)
- Brachycephaly, trichomegaly, and developmental delay
Type

Disease
External link(s)
- IEMbase
Gene
- RPS23 / Ribosomal Protein S23
  5q14.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Ribosomal protein S23
Disease group(s)
- 16.5.3 Disorders of cytosomal ribosomal proteins