nemaline myopathy 10
MONDO:0014513Mondo
Findings
No curated finding names nemaline myopathy 10 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 LMOD3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014513), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
18 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.
- Bulbar palsyHPOHP:0001283
- 2 of 2 reported patients
- Facial palsyHPOHP:0010628
- 2 of 2 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 11 of 11 reported patients
- Feeding difficultiesHPOHP:0011968
- 21 of 21 reported patients
- Generalized hypotoniaHPOHP:0001290
- 21 of 21 reported patients
- Generalized muscle weaknessHPOHP:0003324
- 21 of 21 reported patients
- Muscle weaknessHPO
Show the remaining 6
- Premature birthHPOHP:0001622
- 7 of 21 reported patients
- Congenital contractureHPOHP:0002803
- 6 of 21 reported patients
- OphthalmoplegiaHPOHP:0000602
- 6 of 21 reported patients
- Breech presentationHPOHP:0001623
- 4 of 21 reported patients
- Flexion contractureHPOHP:0001371
- Skeletal muscle atrophyHPOHP:0003202
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.
- HGNC:6649HGNC:6649
- Definitive · ClinGen · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: nemaline myopathy 10
- Also called
- LMOD3 nemaline myopathyNEM10nemaline myopathy caused by mutation in LMOD3nemaline myopathy type 10