FXS

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green FXS STR in Repeat Disorders


Version 0.167

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
  • Expert list
Phenotypes
  • Fragile X syndrome MIM#300624
Tags
  • paediatric-onset