Conditions / Syndrome
Bardet-Biedl syndrome 3
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11.
Signs and symptoms
- Nyctalopia
- Global developmental delay
- Pigmentary retinopathy
- Postaxial polydactyly
- Visual impairment
- Obesity
- Intellectual disability
- Brachydactyly
- External genital hypoplasia
- Rod-cone dystrophy
Also known as: BBS3