Conditions / Syndrome
Bardet-Biedl syndrome 8
info · Syndrome · ICD-10: Q87.89
A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31.
Signs and symptoms
- Postaxial polydactyly
- Global developmental delay
- Rod-cone dystrophy
- Brachycephaly
- Obesity
- Hypogonadism
- Hypospadias
- Intellectual disability
- Renal dysplasia
- Situs inversus totalis
Also known as: BBS8