RPS4X

ribosomal protein S4, X-linked
OMIM: 312760, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green RPS4X in Mendeliome


Version 1.4902

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, RPS4X-related

Green RPS4X in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.800

1 review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, RPS4X-related