Синдром Х-зчепленої розумової відсталості-епілепсії-прогресуючих контрактур суглобів-дисморфізму

Визначення(English summary)

X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.