Timothy syndrome
Findings
No curated finding names Timothy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.
Definition from the Mondo Disease Ontology (MONDO:0010979), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
31 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.
- Cutaneous syndactylyHPOHP:0012725
- 17 of 17 reported patients
- MicrodontiaHPOHP:0000691
- 17 of 17 reported patients
- Prolonged QT intervalHPOHP:0001657
- 17 of 17 reported patients
- Atrioventricular blockHPOHP:0001678
- 16 of 17 reported patients
- BradycardiaHPOHP:0001662
- 16 of 17 reported patients
- Ventricular tachycardiaHPOHP:0004756
- 12 of 17 reported patients
- AutismHPOHP:0000717
Show the remaining 19
- PneumoniaHPOHP:0002090
- Occasional (5% to 29% of cases)
- CardiomegalyHPOHP:0001640
- 6 of 17 reported patients
- HypocalcemiaHPOHP:0002901
- 6 of 17 reported patients
- HypothermiaHPOHP:0002045
- 5 of 17 reported patients
- Patent foramen ovaleHPOHP:0001655
- 5 of 17 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 17 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.
- CACNA1CHGNC:1390
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Ambry Genetics · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: Timothy syndrome
- Also called
- long QT syndrome-syndactyly syndromeTS