Tessadori-Van Haaften neurodevelopmental syndrome 3
MONDO:0030993Mondo
Findings
No curated finding names Tessadori-Van Haaften neurodevelopmental syndrome 3 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
- Infantile onset
HPO, annotations 2026-09-02
Features
116 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.
- Global developmental delayHPOHP:0001263
- 17 of 17 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 17 reported patients
- Wide mouthHPOHP:0000154
- 4 of 17 reported patients
- AtaxiaHPOHP:0001251
- 3 of 17 reported patients
- AutismHPOHP:0000717
- 3 of 17 reported patients
- Motor delayHPOHP:0001270
- 3 of 17 reported patients
- Axial hypotoniaHPOHP:0008936
- 2 of 17 reported patients
- BrachycephalyHPOHP:0000248
- 2 of 17 reported patients
- Broad nasal tipHPOHP:0000455
- 2 of 17 reported patients
- BruxismHPOHP:0003763
- 2 of 17 reported patients
- Deeply set eyeHPOHP:0000490
- 2 of 17 reported patients
Show the remaining 104
- EpicanthusHPOHP:0000286
- 2 of 17 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 17 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 2 of 17 reported patients
- HypotoniaHPOHP:0001252
- 2 of 17 reported patients
- Long palpebral fissureHPOHP:0000637
- 2 of 17 reported patients
- Low-set earsHPOHP:0000369
- 2 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.
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · ClinGen · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: Tessadori-Van Haaften neurodevelopmental syndrome 3
- Also called
- TEVANED3