ventriculomegaly-cystic kidney disease
MONDO:0009063Mondo
Findings
No curated finding names ventriculomegaly-cystic kidney disease 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
- Fetal onset
HPO, annotations 2026-09-02
Features
8 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.
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Renal corticomedullary cystsHPOHP:0000108
- 4 of 6 reported patients · Fetal onset
- VentriculomegalyHPOHP:0002119
- 4 of 6 reported patients
- Hyperechogenic kidneysHPOHP:0004719
- 2 of 6 reported patients
- Tubular luminal dilatationHPOHP:0032622
- 1 of 5 reported patients
- Fetal pericardial effusionHPOHP:0025671
- 1 of 6 reported patients · Fetal onset
- Gray matter heterotopiaHPOHP:0002282
- 1 of 6 reported patients
- Ventricular septal defectHPOHP:0001629
- 1 of 6 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.
- CRB2HGNC:18688
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: ventriculomegaly-cystic kidney disease
- Also called
- congenital nephrosis-cerebral ventriculomegaly syndromeVMCKD