Variants
Sign InSign Up

COG6-CGD

Your Results

Sign In

Description

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

119

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    614576

  • Orphanet

    464443

  • HPO
  • Medgen

    C3553230

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

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