Bardet-Biedl syndrome 9

A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.

Signs and symptoms

• Spicular pigmentation of the retina
• Brachydactyly
• Hyperglycemia
• Irregular menstruation
• Rod-cone dystrophy
• Attenuation of retinal blood vessels
• Delayed speech and language development
• Postaxial hand polydactyly
• Global developmental delay
• Polyphagia

Also known as: BBS9