arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
MONDO:0957795Mondo
Findings
No curated finding names arrhythmogenic cardiomyopathy with variable ectodermal abnormalities 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
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
31 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.
- Dilated cardiomyopathyHPOHP:0001644
- 14 of 14 reported patients
- Notched primary central incisorHPOHP:0012413
- 1 of 1 reported patient
- Left ventricular systolic dysfunctionHPOHP:0025169
- 12 of 13 reported patients
- Dry hairHPOHP:0011359
- 3 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 7 reported patients
- Coarse hairHPOHP:0002208
- 1 of 2 reported patients
- Myocardial fibrosisHPOHP:0001685
- 1 of 2 reported patients
- Myofiber disarrayHPOHP:0031318
- 1 of 2 reported patients
- Sparse scalp hairHPOHP:0002209
- 6 of 12 reported patients
- Motor delayHPOHP:0001270
- 5 of 11 reported patients
- High anterior hairlineHPOHP:0009890
- 4 of 11 reported patients
- Woolly scalp hairHPOHP:0040149
- 4 of 11 reported patients
Show the remaining 19
- Mitral regurgitationHPOHP:0001653
- 4 of 13 reported patients
- Tricuspid regurgitationHPOHP:0005180
- 4 of 13 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 3 of 11 reported patients
- Ventricular bigeminyHPOHP:0034306
- 3 of 14 reported patients
- Cleft lipHPOHP:0410030
- 2 of 11 reported patients
- Nail dystrophyHPOHP:0008404
- 2 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.
- PPP1R13LHGNC:18838
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of