myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
MONDO:0859168Mondo
Findings
No curated finding names myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
22 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.
- Biventricular hypertrophyHPOHP:0200128
- 1 of 1 reported patient
- ClonusHPOHP:0002169
- 12 of 12 reported patients
- Generalized hypotoniaHPOHP:0001290
- 4 of 4 reported patients
- Generalized muscle weaknessHPOHP:0003324
- 13 of 13 reported patients · Neonatal onset
- HepatomegalyHPOHP:0002240
- 4 of 4 reported patients
- Left atrial enlargementHPOHP:0031295
- 1 of 1 reported patient
- Myocardial fibrosisHPOHP:0001685
- 1 of 1 reported patient
- Myofiber disarrayHPOHP:0031318
- 11 of 11 reported patients
- Right atrial enlargementHPOHP:0030718
- 1 of 1 reported patient
- TremorHPOHP:0001337
- 12 of 12 reported patients
- Type 1 fibers relatively smaller than type 2 fibersHPOHP:0003755
- 13 of 13 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 10 of 13 reported patients
Show the remaining 10
- Dilated cardiomyopathyHPOHP:0001644
- 7 of 13 reported patients
- Tented upper lip vermilionHPOHP:0010804
- 7 of 13 reported patients
- Cardiogenic shockHPOHP:0030149
- 2 of 4 reported patients
- Cardiorespiratory arrestHPOHP:0006543
- 2 of 4 reported patients · Neonatal onset
- Mitral regurgitationHPOHP:0001653
- 2 of 4 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
- 6 of 13 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.
- MYL2HGNC:7583
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of