infantile epileptic-dyskinetic encephalopathy
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:0015921
obsolete ARX-related epileptic encephalopathy (obsolete MONDO:0015921)
excluded_subClassOf
MONDO:0020065
combined dystonia
is_a