DOLPP1

dolichyldiphosphatase 1
OMIM: 614516, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red DOLPP1 in Skeletal dysplasia

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

review Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features)