Conditions / Syndrome

Bardet-Biedl syndrome 1

info · Syndrome · ICD-10: Q87.89

A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13.

Signs and symptoms

Astigmatism
Abdominal obesity
Nystagmus
Rod-cone dystrophy
Attenuation of retinal blood vessels
Peripheral visual field loss
Spicular pigmentation of the retina
Nyctalopia
Hyperautofluorescent macular lesion
Insulin resistance

Also known as: BBS1