Variants
Sign InSign Up

Meckel syndrome, type 2

Your Results

Sign In

Description

Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (249000).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

44

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    603194

  • Orphanet
  • HPO
  • Medgen

    C1864148

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

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