Mutations in FOXP1 are a rare cause of autosomal dominant intellectual disability. All mutations reported thus far occurred de novo. Some patients show a similar phenotype due to 3p microdeletions encompassing FOPX1. Frequently identified features in persons with FOXP1 gene mutations are intellectual disability, speech and language impairment, sensory integration disorders, motor delay and recurrent facial features including a high broad forehead, bent and down slanting palpebral fissures, ptosis and/or blepharophimosis, and a bulbous nasal tip. Behavioral problems and autistic features are common. Brain, cardiac and urogenital malformations can be associated. Not all individuals with a mutation in the FOXP1 gene have these features.
Prevalence is unknown, but likely < 1/500 000.
FOXP1