vertebral, cardiac, renal, and limb defects syndrome 3
MONDO:0030077Mondo
Findings
No curated finding names vertebral, cardiac, renal, and limb defects syndrome 3 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
- Death in infancy
HPO, annotations 2026-09-02
Features
14 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.
- Sacral dimpleHPOHP:0000960
- 2 of 5 reported patients
- Anomalous origin of left coronary artery from the pulmonary arteryHPOHP:0011638
- 1 of 3 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 1 of 3 reported patients
- Double outlet right ventricleHPOHP:0001719
- 1 of 3 reported patients
- Hypoplastic left ventricleHPOHP:0004383
- 1 of 3 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 1 of 3 reported patients
- Bilateral renal agenesisHPOHP:0010958
- 1 of 5 reported patients
- Talipes equinovarusHPOHP:0001762
- 1 of 5 reported patients
- Unilateral renal agenesisHPOHP:0000122
- 1 of 5 reported patients
- Ureteral atresiaHPOHP:0005999
- 1 of 5 reported patients
- Short long boneHPOHP:0003026
- Short thoraxHPOHP:0010306
Show the remaining 2
- Vertebral fusionHPOHP:0002948
- Vertebral segmentation defectHPOHP:0003422
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.
- NADSYN1HGNC:29832
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
2 names
Resolves to: vertebral, cardiac, renal, and limb defects syndrome 3
- Also called
- Congenital Nad Deficiency Disorder 3VCRL3