Conditions / Syndrome
Bardet-Biedl syndrome 14
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21.
Signs and symptoms
- Nystagmus
- Renal insufficiency
- Global developmental delay
- Rod-cone dystrophy
- Obesity
- Intellectual disability
- Polydactyly
Also known as: BBS14