intellectual developmental disorder with seizures and language delay
MONDO:0033559Mondo
Findings
No curated finding names intellectual developmental disorder with seizures and language delay yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
19 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.
- Autistic behaviorHPOHP:0000729
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Increased theta frequency activity in EEGHPOHP:0031535
- 1 of 1 reported patient
- Myoclonic seizureHPOHP:0032794
- 3 of 3 reported patients · Childhood onset
- Delayed speech and language developmentHPOHP:0000750
- 2 of 3 reported patients
- AnxietyHPOHP:0000739
- 1 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 2 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 2 reported patients
- EEG with polyspike wave complexesHPOHP:0002392
- 1 of 2 reported patients
- Flat occiputHPOHP:0005469
- 1 of 2 reported patients
- Full cheeksHPOHP:0000293
- 1 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 1 of 2 reported patients
Show the remaining 7
- Myoclonic absence seizureHPOHP:0011150
- 1 of 2 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 1 of 2 reported patients
- Square faceHPOHP:0000321
- 1 of 2 reported patients
- Thick eyebrowHPOHP:0000574
- 1 of 2 reported patients
- Thick lower lip vermilionHPOHP:0000179
- 1 of 2 reported patients
- Tapered fingerHPOHP:0001182
- 1 of 3 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.
- SETD1BHGNC:29187
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2019
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
2 names
Resolves to: intellectual developmental disorder with seizures and language delay
- Also called
- SETD1B-NDDSETD1B-Related Neurodevelopmental Disorder