Conditions / Syndrome
Bardet-Biedl syndrome 6
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12.
Signs and symptoms
- Pigmentary retinopathy
- Postaxial polydactyly
- Obesity
- Intellectual disability
- Diabetes mellitus
- External genital hypoplasia
- Rod-cone dystrophy
- Syndactyly
- Hypospadias
- Renal cyst
Also known as: BBS6