Additional Disease Briefs

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* = NORD Rare Disease Report

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Rare Disease Database Reports Additional Rare Disease Briefs
developmental and epileptic encephalopathy 94

Also known as: CHCHD10-related disorders, CHD2 myoclonic encephalopathy, DEE94, EEOC, childhood onset epileptic encephalopathy, childhood-onset epileptic encephalopathy, developmental and epileptic encephalopathy 94, epileptic encephalopathy, childhood-onset

developmental and epileptic encephalopathy, 1

Also known as: ARX early infantile epileptic encephalopathy, DEE1, EIEE1, Ohtahara syndrome, X-linked, West syndrome, X-linked, XMESID, developmental and epileptic encephalopathy 1, X-linked recessive, early infantile epileptic encephalopathy caused by mutation in ARX, early infantile epileptic encephalopathy caused by mutation in arx, epileptic encephalopathy, early infantile, 1, epileptic encephalopathy, early infantile, type 1, infantile epileptic-dyskinetic encephalopathy, infantile spasm syndrome, X-linked 1

developmental and epileptic encephalopathy, 11

Also known as: DEE11, EIEE11, SCN2A early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 11, early infantile epileptic encephalopathy caused by mutation in SCN2A, epileptic encephalopathy, early infantile, 11, epileptic encephalopathy, early infantile, type 11

developmental and epileptic encephalopathy, 12

Also known as: DEE12, EIEE12, PLCB1 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 12, developmental and epileptic encephalopathy, 12, early infantile epileptic encephalopathy 12, early infantile epileptic encephalopathy caused by mutation in PLCB1, epileptic encephalopathy, early infantile, 12, epileptic encephalopathy, early infantile, type 12

developmental and epileptic encephalopathy, 13

Also known as: DEE13, EIEE13, SCN8A early infantile epileptic encephalopathy, SCN8A encephalopathy, SCN8A epilepsy, developmental and epileptic encephalopathy 13, early infantile epileptic encephalopathy caused by mutation in SCN8A, early infantile epileptic encephalopathy-13, epileptic encephalopathy, early infantile, 13, epileptic encephalopathy, early infantile, type 13

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