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Developmental and epileptic encephalopathy (DEE) conditions are rare, and most have a genetic cause.

Principal Research Fellow

One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.

About 2 per cent of children are estimated to have an intellectual disability. The cause of the condition is unknown in at least 50 per cent of cases.

A severe neurodevelopmental disorder mostly affecting girls.

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.