Clinical features
Pathogenic homozygous variants in IFT27 have been documented to cause intellectual disability, obesity, polydactyly, hypogonadism, retinitis pigmentousa, and renal failure, a constillation of symptoms termed Bardet-Biedl syndrome-19 (BBS-19). Other variable features including strabismus, hyposmia, mitral insufficiency, cardiac septal defects, and thinned corpus callosum have been observed in some reported cases.
Prevalence
The prevalence of IFT27-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
IFT27-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.
IFT27