progressive myoclonic epilepsy type 9
Findings
No curated finding names progressive myoclonic epilepsy type 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014685), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
16 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 ataxiaHPOHP:0002066
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 2 of 2 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 3 reported patients
- Action myoclonusHPOHP:0034360
- 1 of 2 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 2 reported patients
- Frequent fallsHPOHP:0002359
- 1 of 2 reported patients
- Generalized amyotrophyHPOHP:0003700
Show the remaining 4
- Short thumbHPOHP:0009778
- 1 of 2 reported patients
- Simplified gyral patternHPOHP:0009879
- 1 of 2 reported patients
- Status epilepticusHPOHP:0002133
- 1 of 2 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 2 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.
- LMNB2HGNC:6638
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
7 names
Resolves to: progressive myoclonic epilepsy type 9
- Also called
- epilepsy, progressive myoclonic, type 9EPM9LMNB2 progressive myoclonic epilepsyPME type 9progressive myoclonic epilepsy caused by mutation in LMNB2progressive myoclonic epilepsy due to LMNB2 deficiencyprogressive myoclonus epilepsy type 9