Conditions / Syndrome
Bardet-Biedl syndrome 2
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13.
Signs and symptoms
- Dilatation of the renal pelvis
- Nyctalopia
- Chronic kidney disease
- Moderate myopia
- Ultra-low vision with retained light projection
- Dental crowding
- Hyperactivity
- Rod-cone dystrophy
- Hypogonadism
- Intellectual disability
Also known as: BBS2