Conditions / Syndrome
Bardet-Biedl syndrome 17
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21.
Signs and symptoms
- Situs inversus totalis
- Dextrocardia
- Polydactyly
- Cognitive impairment
- Mesoaxial hand polydactyly
- Rod-cone dystrophy
- Hypogonadism
- Intellectual disability
- Micropenis
- Postaxial hand polydactyly
Also known as: BBS17