Variants
Sign InSign Up

Corneal dystrophy-perceptive deafness syndrome

Your Results

Sign In

Description

Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive sensorineural deafness, and is transmitted as an autosomal recessive trait (summary by Desir et al., 2007).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

97

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    217400

  • Orphanet

    1490

  • HPO
  • Medgen

    C1857572

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

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