Variants
Sign InSign Up

Lethal congenital glycogen storage disease of heart

Your Results

Sign In

Description

Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.

MONDO

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

289

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    261740

  • Orphanet

    439854

  • HPO
  • Medgen

    C1849813

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.