Individuals with disease-causing mutations in the FBXO11 gene have developmental delay which is characterized by motor- and speech delay and a variable IQ. Additional clinical features include behavioral problems, hypotonia, brain abnormalities, seizures, vision problems, obesity, gastro-intestinal problems, dysmorphic features, cleft lip or palate or bifid uvula, minor skeletal abnormalities, immunological problems and congenital malformations involving the heart or urogenital system. Not all individuals with disease-causing mutations in FBXO11 have these features and presence of clinical problems is rather variable based on current knowledge.
FBXO11