BPES

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green BPES STR in Repeat Disorders


Version 0.167

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100
  • Premature ovarian failure 3 MIM#608996
Tags
  • paediatric-onset