X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterized 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. The disease is MONDO_0019418 (X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome).