vertebral, cardiac, renal, and limb defects syndrome 2
MONDO:0060555Mondo
Findings
No curated finding names vertebral, cardiac, renal, and limb defects syndrome 2 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
HPO, annotations 2026-09-02
Features
19 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.
- Elevated circulating 3-hydroxykynurenine concentrationHPOHP:6000776
- 3 of 3 reported patients
- HemivertebraeHPOHP:0002937
- 2 of 2 reported patients
- Vertebral segmentation defectHPOHP:0003422
- 2 of 2 reported patients
- 11 pairs of ribsHPOHP:0000878
- 1 of 2 reported patients
- Anteriorly placed anusHPOHP:0001545
- 1 of 2 reported patients
- Chronic kidney diseaseHPOHP:0012622
- 1 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 2 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 2 reported patients
- Hypoplastic left ventricleHPOHP:0004383
- 1 of 2 reported patients
- Low-set earsHPOHP:0000369
- 1 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 2 reported patients
Show the remaining 7
- Narrow chestHPOHP:0000774
- 1 of 2 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 1 of 2 reported patients
- Renal hypoplasiaHPOHP:0000089
- 1 of 2 reported patients
- RhizomeliaHPOHP:0008905
- 1 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 2 reported patients
- TalipesHPOHP:0001883
- 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.
- KYNUHGNC:6469
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Laboratory for Molecular Medicine · Autosomal recessive · 2020