intellectual developmental disorder with paroxysmal dyskinesia or seizures
MONDO:0030900Mondo
Findings
No curated finding names intellectual developmental disorder with paroxysmal dyskinesia or seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
23 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.
- ChoreaHPOHP:0002072
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- DystoniaHPOHP:0001332
- 4 of 4 reported patients
- EEG abnormalityHPOHP:0002353
- 1 of 1 reported patient
- Facial grimacingHPOHP:0000273
- 1 of 1 reported patient
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- IncoordinationHPOHP:0002311
- 1 of 1 reported patient
- Moderate intellectual disabilityHPOHP:0002342
- 1 of 1 reported patient
- Motor stereotypyHPOHP:0000733
- 2 of 2 reported patients
- Paroxysmal dyskinesiaHPOHP:0007166
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients · Juvenile onset
Show the remaining 11
- Axial hypotoniaHPOHP:0008936
- 2 of 3 reported patients
- Developmental regressionHPOHP:0002376
- 3 of 5 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 2 reported patients
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- BruxismHPOHP:0003763
- 1 of 2 reported patients
- FallsHPOHP:0002527
- 2 of 4 reported patients
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.
- PDE2AHGNC:8777
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: intellectual developmental disorder with paroxysmal dyskinesia or seizures
- Also called
- IDDPADS