CCHS

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green CCHS STR in Repeat Disorders


Version 0.167

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Tags
  • paediatric-onset