Conditions / Syndrome
Bardet-Biedl syndrome 16
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43.
Signs and symptoms
- Stage 5 chronic kidney disease
- Short stature
- Global developmental delay
- Reduced visual acuity
- Rod-cone dystrophy
- Intellectual disability
- Obesity
- Renal dysplasia
- Hearing impairment
- Respiratory distress
Also known as: BBS16