intellectual disability, autosomal dominant 55, with seizures
MONDO:0030921Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 55, with seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- EEG abnormalityHPOHP:0002353
- 3 of 3 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients · Infantile onset
- TremorHPOHP:0001337
- 5 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 6 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 2 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 3 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 3 reported patients
- DysarthriaHPOHP:0001260
- 1 of 3 reported patients
Show the remaining 5
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 3 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 3 reported patients
- Motor delayHPOHP:0001270
- 2 of 6 reported patients
- Myoclonic seizureHPOHP:0032794
- 1 of 3 reported patients
- Generalized myoclonic seizureHPOHP:0002123
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.
- NUS1HGNC:21042
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2017