familial infantile myoclonic epilepsy
Findings
No curated finding names familial infantile myoclonic epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia and borderline-to-moderate intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0011506), read 2026-09-29. CC BY 4.0.
Features
9 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.
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Impaired tandem gaitHPOHP:0031629
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 4 of 4 reported patients
- DysarthriaHPOHP:0001260
- 3 of 4 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 4 reported patients
- AtaxiaHPOHP:0001251
- 1 of 4 reported patients
- Limb ataxiaHPOHP:0002070
- 1 of 4 reported patients
- Muscle fibrillationHPOHP:0010546
- 1 of 4 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.
- TBC1D24HGNC:29203
- Definitive · G2P · Autosomal recessive · 2015
- Moderate · Ambry Genetics · Autosomal recessive · 2016
Where it sits
Other names
3 names
Resolves to: familial infantile myoclonic epilepsy
- Also called
- familial infantile myoclonus epilepsyFIMEmyoclonic epilepsy, infantile, familial