Conditions / Syndrome
Bardet-Biedl syndrome 4
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24.
Signs and symptoms
- Nyctalopia
- Cryptorchidism
- Syndactyly
- Abnormality of the kidney
- Brachydactyly
- External genital hypoplasia
- Polydactyly
- Renal cyst
- Retinal degeneration
- Rod-cone dystrophy
Also known as: BBS4