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focal epilepsy-intellectual disability-cerebro-cerebellar malformation

^ http://purl.obolibrary.org/obo/MONDO_0018125


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 persistance into adult life is observed. [ Orphanet:352587 ]

Term info

database cross reference
  • UMLS:CN204502 (MONDO:equivalentTo)
  • Orphanet:352587 (MONDO:equivalentTo)
Subsets

ordo_disease

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 persistance into adult life is observed.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN204502, http://purl.obolibrary.org/obo/Orphanet_352587

has exact synonym

focal epilepsy-intellectual disability-dysarthria-ataxia syndrome

id

MONDO:0018125

Term relations

Subclass of: