nemaline myopathy 6
MONDO:0012237Mondo
Findings
No curated finding names nemaline myopathy 6 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 KBTBD13 gene.
Definition from the Mondo Disease Ontology (MONDO:0012237), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
11 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 0 of 42 reported patients
- Facial palsyHPOHP:0010628
- 0 of 24 reported patients
- Difficulty climbing stairsHPOHP:0003551
- Difficulty runningHPOHP:0009046
- Exercise intoleranceHPOHP:0003546
- Gait disturbanceHPOHP:0001288
- Limb muscle weaknessHPOHP:0003690
- MyopathyHPOHP:0003198
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.
- KBTBD13HGNC:37227
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: nemaline myopathy 6
- Also called
- KBTBD13 nemaline myopathynemaline myopathy caused by mutation in KBTBD13nemaline myopathy type 6