focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Findings
No curated finding names focal epilepsy-intellectual disability-cerebro-cerebellar malformation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistence into adult life is observed.
Definition from the Mondo Disease Ontology (MONDO:0018125), read 2026-09-29. CC BY 4.0.
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
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: focal epilepsy-intellectual disability-cerebro-cerebellar malformation
- Also called
- focal epilepsy-intellectual disability-dysarthria-ataxia syndrome