Variants
Sign InSign Up

Bardet-Biedl syndrome 8

Your Results

Sign In

Description

BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

45

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    615985

  • Orphanet
  • HPO
  • Medgen

    C1859566

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

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