| Main clinical features
|
intellectual developmental disorder characterized by borderline to severe intellectual disability and impaired language development
additional features include behavioral problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms
phenotypic spectrum of CLCN4-related epilepsy includes drug-resistant seizures, cognitive and language impairment, behavioral disorders, and congenital anomalies; (Lamotrigine can be considered a therapeutic option) |