Bardet-Biedl syndrome 19

A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12.

Signs and symptoms

• Partial atrioventricular canal defect
• Mesoaxial hand polydactyly
• Rod-cone dystrophy
• Exodeviation
• Delayed speech and language development
• Delayed ability to walk
• Hypoplasia of the corpus callosum
• Global developmental delay
• Y-shaped metacarpals
• Cone/cone-rod dystrophy

Also known as: BBS19