Infantile epileptic-dyskinetic encephalopathy

Disease Export to PDF
Name:
Infantile epileptic-dyskinetic encephalopathy
Description:
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.
ORPHAcode:
364063
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14