vertebral, cardiac, tracheoesophageal, renal, and limb defects
MONDO:0030987Mondo
Findings
No curated finding names vertebral, cardiac, tracheoesophageal, renal, and limb defects yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
28 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.
- Butterfly vertebraeHPOHP:0003316
- 3 of 6 reported patients
- Esophageal atresiaHPOHP:0002032
- 6 of 12 reported patients
- Tracheoesophageal fistulaHPOHP:0002575
- 6 of 12 reported patients
- Sprengel anomalyHPOHP:0000912
- 4 of 9 reported patients
- Fused cervical vertebraeHPOHP:0002949
- 2 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 9 reported patients
- Short statureHPOHP:0004322
- 3 of 11 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 9 reported patients
- Renal agenesisHPOHP:0000104
- 2 of 9 reported patients
- Muscular ventricular septal defectHPOHP:0011623
- 2 of 11 reported patients
- Duodenal atresiaHPOHP:0002247
- 2 of 12 reported patients
- Spina bifida occultaHPOHP:0003298
- 1 of 6 reported patients
Show the remaining 16
- Pectus excavatumHPOHP:0000767
- 1 of 7 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 1 of 9 reported patients
- HypertrichosisHPOHP:0000998
- 1 of 9 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 9 reported patients
- Unilateral renal agenesisHPOHP:0000122
- 1 of 9 reported patients
- Broad foreheadHPOHP:0000337
- 1 of 11 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.
- WBP11HGNC:16461
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: vertebral, cardiac, tracheoesophageal, renal, and limb defects
- Also called
- VCTERLVCTERL syndrome