congenital myopathy 23
MONDO:0012240Mondo
Findings
No curated finding names congenital myopathy 23 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012240), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
32 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.
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient · Juvenile onset
- 1 of 1 reported patient
- 2 of 2 reported patients
- Joint contractureHPOHP:0034392
- 8 of 8 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Neck muscle weaknessHPOHP:0000467
- 3 of 3 reported patients
- Nemaline bodiesHPOHP:0003798
- 8 of 9 reported patients
Show the remaining 20
- Central core regions in muscle fibersHPOHP:0030230
- 3 of 7 reported patients
- PsychosisHPOHP:0000709
- 3 of 8 reported patients
- Angulated muscle fibersHPOHP:0034045
- 2 of 7 reported patients
- Myofiber disarrayHPOHP:0031318
- 2 of 7 reported patients
- Exercise-induced myalgiaHPOHP:0003738
- 2 of 8 reported patients
- Pectus carinatumHPOHP:0000768
- 2 of 8 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.
- TPM2HGNC:12011
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: congenital myopathy 23
- Also called
- CAPM2NEM4nemaline myopathy 4nemaline myopathy caused by mutation in TPM2nemaline myopathy type 4TPM2 nemaline myopathy