nemaline myopathy 9
MONDO:0014326Mondo
Findings
No curated finding names nemaline myopathy 9 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 KLHL41 gene.
Definition from the Mondo Disease Ontology (MONDO:0014326), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- Breech presentationHPOHP:0001623
- 2 of 4 reported patients
- PolyhydramniosHPOHP:0001561
- 1 of 4 reported patients
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 1 of 5 reported patients
- Cleft palateHPOHP:0000175
- 1 of 5 reported patients
- High palateHPOHP:0000218
- 1 of 5 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 5 reported patients
- Narrow chestHPOHP:0000774
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.
- KLHL41HGNC:16905
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Moderate · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
4 names
Resolves to: nemaline myopathy 9
- Also called
- KLHL41 nemaline myopathyNEM9nemaline myopathy caused by mutation in KLHL41nemaline myopathy type 9