Clinical features
Autosomal recessive mutations in the FAM149B1 gene cause FAM149B1-related ciliopathy, which is characterized by intellectual disability, developmental delay, oculomotor apraxia, ptosis, polydactyly, and other variable findings.
Prevalence
The prevalence of FAM149B1-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
FAM149B1-related disorders are inherited in an autosomal recessive manner.