PKDCC:Ensemblv90

protein kinase domain containing, cytoplasmic
OMIM: 614150, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PKDCC in Mendeliome


Version 1.3802

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rhizomelic limb shortening with dysmorphic features, MIM# 618821

Green PKDCC in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.365

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Rhizomelic limb shortening with dysmorphic features, MIM# 618821

Green PKDCC in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Literature
  • Expert Review Green
Phenotypes
  • Rhizomelic limb shortening with dysmorphic features, MIM# 618821