rolandic epilepsy-speech dyspraxia syndrome
Findings
No curated finding names rolandic epilepsy-speech dyspraxia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.
Definition from the Mondo Disease Ontology (MONDO:0015587), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Speech apraxiaHPOHP:0011098
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- Frequent (30% to 79% of cases)
- Continuous spike and waves during slow sleepHPOHP:0031491
- Frequent (30% to 79% of cases)
- DroolingHPOHP:0002307
- Frequent (30% to 79% of cases)
Show the remaining 6
- DysarthriaHPOHP:0001260
- Occasional (5% to 29% of cases)
- Hypernasal speechHPOHP:0001611
- Occasional (5% to 29% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- Occasional (5% to 29% of cases)
- Incomprehensible speechHPOHP:0002546
- Occasional (5% to 29% of cases)
- Short attention spanHPOHP:0000736
- Occasional (5% to 29% of cases)
- Specific learning disabilityHPOHP:0001328
- Occasional (5% to 29% of cases)
Genes
2 genes
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.
Where it sits
- A kind of