Tessadori-van Haaften neurodevelopmental syndrome 1
MONDO:0030729Mondo
Findings
No curated finding names Tessadori-van Haaften neurodevelopmental syndrome 1 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
- Congenital onset
HPO, annotations 2026-09-02
Features
37 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.
- Bifid nasal tipHPOHP:0000456
- 3 of 3 reported patients
- Growth delayHPOHP:0001510
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 3 of 3 reported patients
- Wide mouthHPOHP:0000154
- 2 of 2 reported patients
- Broad nasal tipHPOHP:0000455
- 2 of 3 reported patients
- HypertelorismHPOHP:0000316
- 2 of 3 reported patients
- HypotoniaHPOHP:0001252
- 2 of 3 reported patients
- Absence of renal corticomedullary differentiationHPOHP:0005564
- 1 of 3 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 3 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 3 reported patients
Show the remaining 25
- Cutis marmorataHPOHP:0000965
- 1 of 3 reported patients
- Decreased fetal movementHPOHP:0001558
- 1 of 3 reported patients
- EsodeviationHPOHP:0020045
- 1 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 1 of 3 reported patients
- Glue earHPOHP:0040262
- 1 of 3 reported patients
- Hepatic failureHPOHP:0001399
- 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.
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
1 name
Resolves to: Tessadori-van Haaften neurodevelopmental syndrome 1
- Also called
- TEVANED1