myoclonus, familial, 1
MONDO:0100093Mondo
Findings
No curated finding names myoclonus, familial, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.
Definition from the Mondo Disease Ontology (MONDO:0100093), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Slowly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
6 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.
- Action myoclonusHPOHP:0034360
- 11 of 11 reported patients
- InsomniaHPOHP:0100785
- 10 of 11 reported patients
- Frequent fallsHPOHP:0002359
- 8 of 11 reported patients
- AtaxiaHPOHP:0001251
- 4 of 11 reported patients
- Action tremorHPOHP:0002345
- 1 of 11 reported patients
- MyoclonusHPOHP:0001336
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.
- NOL3HGNC:7869
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: myoclonus, familial, 1
- Also called
- FCMMYOCL1