Glycogen storage disease due to liver phosphorylase kinase deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Definition
A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.
Also identified as
- Orphanet 264580 per MONDO