Tessadori-Van Haaften neurodevelopmental syndrome 4
MONDO:0031000Mondo
Findings
No curated finding names Tessadori-Van Haaften neurodevelopmental syndrome 4 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
42 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.
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- MicropenisHPOHP:0000054
- 1 of 1 reported patient
- Preauricular pitHPOHP:0004467
- 3 of 3 reported patients
- Hearing impairmentHPOHP:0000365
- 2 of 3 reported patients
- HypertelorismHPOHP:0000316
- 2 of 3 reported patients
- Narrow foreheadHPOHP:0000341
- 2 of 3 reported patients
- Short philtrumHPOHP:0000322
- 2 of 3 reported patients
- Dilation of Virchow-Robin spacesHPOHP:0012520
- 1 of 2 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 2 reported patients
- StrabismusHPOHP:0000486
- 3 of 6 reported patients
Show the remaining 30
- 2-3 toe syndactylyHPOHP:0004691
- 1 of 3 reported patients
- 3-4 finger cutaneous syndactylyHPOHP:0011939
- 1 of 3 reported patients
- Bicoronal synostosisHPOHP:0011318
- 1 of 3 reported patients
- Camptodactyly of fingerHPOHP:0100490
- 1 of 3 reported patients
- Deep philtrumHPOHP:0002002
- 1 of 3 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 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.
- Limited · Ambry Genetics · Autosomal dominant · 2022
Where it sits
Other names
1 name
Resolves to: Tessadori-Van Haaften neurodevelopmental syndrome 4
- Also called
- TEVANED4