DDRGK1

DDRGK domain containing 1
OMIM: 616177, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green DDRGK1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Shohat type (MIM#602557)
Tags
  • founder

Green DDRGK1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557
Tags
  • founder