congenital myopathy 15
MONDO:0859335Mondo
Findings
No curated finding names congenital myopathy 15 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
16 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.
- Muscle weaknessHPOHP:0001324
- 4 of 4 reported patients
- Weakness of facial musculatureHPOHP:0030319
- 4 of 4 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 3 of 4 reported patients
- Motor delayHPOHP:0001270
- 3 of 4 reported patients
- OsteopeniaHPOHP:0000938
- 3 of 4 reported patients
- Reduced forced vital capacityHPOHP:0032341
- 3 of 4 reported patients
- HypotoniaHPOHP:0001252
- 2 of 4 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 1 of 2 reported patients
- PolyhydramniosHPOHP:0001561
- 2 of 4 reported patients
- Type 1 muscle fiber predominanceHPOHP:0003803
- 1 of 2 reported patients
- Vocal cord paralysisHPOHP:0001605
- 2 of 4 reported patients
- Waddling gaitHPOHP:0002515
- 2 of 4 reported patients
Show the remaining 4
- CamptodactylyHPOHP:0012385
- 1 of 4 reported patients
- Decreased fetal movementHPOHP:0001558
- 1 of 4 reported patients
- Joint hypermobilityHPOHP:0001382
- 1 of 4 reported patients
- Tricuspid regurgitationHPOHP:0005180
- 1 of 4 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.
- TNNC2HGNC:11944
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023