MEDPSACH

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green MEDPSACH STR in Repeat Disorders


Version 0.167

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epiphyseal dysplasia, multiple, 1 MIM#132400
  • Pseudoachondroplasia MIM#177170
Tags
  • paediatric-onset