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infantile epileptic-dyskinetic encephalopathy

^ http://purl.obolibrary.org/obo/MONDO_0018226

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. [ Orphanet:364063 ]

Term info

database cross reference
  • Orphanet:364063 (MONDO:equivalentTo)
  • MESH:C567924 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_364063, http://identifiers.org/mesh/C567924

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015921

id

MONDO:0018226

Term relations