Yuksel-Vogel-Bauer syndrome
MONDO:0958205Mondo
Findings
No curated finding names Yuksel-Vogel-Bauer syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Antenatal onset
HPO, annotations 2026-09-02
Features
17 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.
- Cleft lipHPOHP:0410030
- 2 of 2 reported patients
- Cleft palateHPOHP:0000175
- 2 of 2 reported patients
- Coarse facial featuresHPOHP:0000280
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Renal salt wastingHPOHP:0000127
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 1 of 2 reported patients
- Broad footHPOHP:0001769
- 1 of 2 reported patients
- Broad palmHPOHP:0001169
- 1 of 2 reported patients
- Communicating hydrocephalusHPOHP:0001334
- 1 of 2 reported patients
- HydronephrosisHPOHP:0000126
- 1 of 2 reported patients
- Joint contracture of the handHPOHP:0009473
- 1 of 2 reported patients
Show the remaining 5
- Multicystic kidney dysplasiaHPOHP:0000003
- 1 of 2 reported patients
- Noncommunicating hydrocephalusHPOHP:0010953
- 1 of 2 reported patients
- Renal cortical hyperechogenicityHPOHP:0033132
- 1 of 2 reported patients
- Split handHPOHP:0001171
- 1 of 2 reported patients
- Ventricular septal defectHPOHP:0001629
- 1 of 2 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.
- DLG5HGNC:2904
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2025
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of