infantile epileptic-dyskinetic encephalopathy
Findings
No curated finding names infantile epileptic-dyskinetic encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0018226), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARXHGNC:18060
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of