Conditions / Syndrome
Bardet-Biedl syndrome 12
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27.
Signs and symptoms
- Polydactyly
- Cystic renal dysplasia
- Rod-cone dystrophy
- Hypogonadism
- Postaxial hand polydactyly
- Hydroureter
- Abdominal mass
- Cognitive impairment
- Hydrometrocolpos
- Postaxial foot polydactyly
Also known as: BBS12