OTUD6B-associated syndrome is a multisystem disorder characterized most commonly by intellectual disability, seizures, and dysmorphic features. Additional features can include microcephaly, feeding difficulties, congenital anomalies including congenital heart disease, minor skeletal anomalies, other musculoskeletal features, and short stature.
OTUD6B-associated syndrome is inherited in an autosomal recessive pattern. The prevalence of this condition is currently unknown. Fewer than 50 patients have been previously reported in scientific literature.
OTUD6B