Tessadori-van Haaften neurodevelopmental syndrome 2
MONDO:0030730Mondo
Findings
No curated finding names Tessadori-van Haaften neurodevelopmental syndrome 2 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
21 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.
- Absent speechHPOHP:0001344
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Downturned corners of mouthHPOHP:0002714
- 1 of 1 reported patient
- EsotropiaHPOHP:0000565
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Highly arched eyebrowHPOHP:0002553
- 1 of 1 reported patient
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- HypospadiasHPOHP:0000047
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
Show the remaining 9
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Oculomotor apraxiaHPOHP:0000657
- 1 of 1 reported patient
- Periorbital fullnessHPOHP:0000629
- 1 of 1 reported patient
- Pes planusHPOHP:0001763
- 1 of 1 reported patient
- Short philtrumHPOHP:0000322
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
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.
- Moderate · G2P · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
1 name
Resolves to: Tessadori-van Haaften neurodevelopmental syndrome 2
- Also called
- TEVANED2