Gabriele de Vries syndrome
MONDO:0044738Mondo
Findings
No curated finding names Gabriele de Vries syndrome 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
88 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.
- Broad foreheadHPOHP:0000337
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- Motor delayHPOHP:0001270
- 10 of 10 reported patients
- Feeding difficultiesHPOHP:0011968
- 9 of 10 reported patients
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Bulbous noseHPOHP:0000414
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- 8 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Thick lower lip vermilionHPOHP:0000179
- 8 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Facial asymmetryHPOHP:0000324
- 7 of 10 reported patients
- Frequent (30% to 79% of cases)
- Simple earHPOHP:0020206
- 7 of 10 reported patients
Show the remaining 76
- Abnormality of upper lip vermillionHPOHP:0011339
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Delayed ability to walkHPOHP:0031936
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- 5 of 10 reported patients
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Gastrostomy tube feeding in infancyHPOHP:0011471
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.
- YY1HGNC:12856
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: Gabriele de Vries syndrome
- Also called
- YY1 haploinsufficiency syndrome