cardiomyopathy, familial restrictive, 6
MONDO:0030330Mondo
Findings
No curated finding names cardiomyopathy, familial restrictive, 6 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 · Fetal onset
HPO, annotations 2026-09-02
Features
9 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.
- Restrictive cardiomyopathyHPOHP:0001723
- 2 of 2 reported patients · Fetal onset
- Tricuspid regurgitationHPOHP:0005180
- 2 of 2 reported patients
- AscitesHPOHP:0001541
- 1 of 2 reported patients
- Hepatic artery hyperplasiaHPOHP:4000148
- 1 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 2 reported patients
- Hydrops fetalisHPOHP:0001789
- 1 of 2 reported patients
- Portal vein hypoplasiaHPOHP:0034548
- 1 of 2 reported patients
- Pulmonic regurgitationHPOHP:0010444
- 1 of 2 reported patients
- Pulmonic stenosisHPOHP:0001642
- 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.
- KIF20AHGNC:9787
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: cardiomyopathy, familial restrictive, 6
- Also called
- RCM6