IFT27

Clinical Characteristics

From what's been observed in four families studied so far, people with BBS-19 caused by IFT27 mutations tend to have certain common health problems. These include eye issues like retinitis pigmentosa (a condition that affects vision), obesity, having extra fingers or toes (polydactyly), problems with thinking and learning (cognitive impairment), kidney problems, issues with their reproductive organs, and trouble with their sense of smell (anosmia).

Additionally, some other less common issues have been noticed in these individuals. These can include hearing loss, allergies (atopy), heart defects present from birth (congenital heart disease like atrioventricular septal defect), a fatty liver, abnormalities in the structure of their ribs and anus (like short ribs or imperforate anus), and problems with the structure of their voice box (laryngeal anomalies).