Аутосомно-рецесивний синдром мозочкової атаксії-епілепсії-інтелектуальної недостатності, зумовленої дефіцитом RUBCN

Визначення(English summary)

An extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.