Clinical Characteristics

BRAT1 related disorder is associated with neurological and developmental issues that span a spectrum of severity. On the severe end of the spectrum is a severe presentation characterized by small head size, decreased volume of brain matter, difficult to control seizures, increased tone, instability in breathing and heart rate, and early death. Moderate presentations may be characterized by later-onset of epilepsy (seizure disorder) and survival past infancy. Milder presentations can include intellectual disability, ataxia (incoordination with movements), and decreased volume of a part of the brain called the cerebellum.  Affected individuals may also have distinctive facial features.