Conditions / Syndrome
Bardet-Biedl syndrome 13
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22.
Signs and symptoms
- Spicular pigmentation of the retina
- Polydactyly
- Attenuation of retinal blood vessels
- Intellectual disability
- Obesity
- Rod-cone dystrophy
- Global developmental delay
Also known as: BBS13