Conditions / Syndrome
Bardet-Biedl syndrome 20
info · Syndrome
A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygo
A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23.
Signs and symptoms
- Borderline intellectual disability
- Constriction of peripheral visual field
- Astigmatism
- Nyctalopia
- Hypermetropia
- Retinal vascular tortuosity
- Increased intracranial pressure
- Rod-cone dystrophy
- Elevated circulating hepatic transaminase concentration
- Delayed speech and language development