Conditions / Syndrome
Bardet-Biedl syndrome 10
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21.
Signs and symptoms
- Mild intellectual disability
- Seizure
- Global developmental delay
- Rod-cone dystrophy
- Obesity
- Retinal dystrophy
- Renal insufficiency
- Renal cyst
- Hypogonadism
- Polydactyly
Also known as: BBS10