Phenotypically, individuals with BBS-19 caused by IFT27 mutations may present with similar features as other forms of Bardet-Biedl syndrome. Overall, 4 families have been reported in literature to have IFT-27 and the following most common clinical features were noted: retinitis pigmentosa (100%), obesity (100%), polydactyly (100%), strabismus, intellectual disability, renal failure, hypogonadism, and anosmia. Other features that were noted include: deafness, atopy, thinned corpus callosum, congenital heart disease (eg, atrioventricular septal defect, mitral insufficiency), fatty liver, short ribs, imperforate anus, and laryngeal anomalies.
IFT27