gnb5-related intellectual disability-cardiac arrhythmia syndrome
MONDO:0014953Mondo
Findings
No curated finding names gnb5-related intellectual disability-cardiac arrhythmia syndrome 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.
- BradycardiaHPOHP:0001662
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Sick sinus syndromeHPOHP:0011704
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- 6 of 7 reported patients
- Frequent (30% to 79% of cases)
- Abnormality of the cardiovascular systemHPOHP:0001626
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 6 of 9 reported patients
- Frequent (30% to 79% of cases)
- Gastroesophageal refluxHPOHP:0002020
- 5 of 8 reported patients
- Frequent (30% to 79% of cases)
- Abnormal electroretinogramHPOHP:0000512
- 3 of 9 reported patients
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
Show the remaining 11
- SeizureHPOHP:0001250
- 4 of 9 reported patients
- Frequent (30% to 79% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
- Ventricular escape rhythmHPOHP:0005155
- Frequent (30% to 79% of cases)
- HypsarrhythmiaHPOHP:0002521
- Occasional (5% to 29% of cases)
- KeratoconusHPOHP:0000563
- Occasional (5% to 29% of cases)
- Patent foramen ovaleHPOHP:0001655
- Occasional (5% to 29% of cases)
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.
- GNB5HGNC:4401
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: gnb5-related intellectual disability-cardiac arrhythmia syndrome
- Also called
- IDDCAintellectual developmental disorder with cardiac arrhythmiaintellectual developmental disorder with cardiac arrhythmia; IDDCA