Conditions / Syndrome

Bardet-Biedl syndrome 5

info · Syndrome · ICD-10: Q87.89

A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31.

Signs and symptoms

  • Micropenis
  • Mild intellectual disability
  • Nyctalopia
  • Brachydactyly
  • Hypodontia
  • Reduced visual acuity
  • Clinodactyly of the 5th finger
  • Optic disc pallor
  • Attenuation of retinal blood vessels
  • Hypogonadism

Also known as: BBS5