Variants
Sign InSign Up

Curry-Jones syndrome

Your Results

Sign In

Description

Curry-Jones syndrome is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by Twigg et al., 2016).

OMIM

  • Mode of Inheritance

  • Somatic mosaicism

VARIANTS

2

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    601707

  • Orphanet

    1553

  • HPO
  • Medgen

    C0795915

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

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