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infantile epileptic-dyskinetic encephalopathy

Disease Summary
Associated Targets ()

Mondo Description Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0018226:  infantile epileptic-dyskinetic encephalopathy