{"Name":"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation","DiseaseID__c":"GARD:0021522","id":21522,"encodedName":"focal-epilepsy-intellectual-disability-cerebro-cerebellar-malformation","IsDeleted":false,"Disease_Name_Full__c":"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation","Xref_IDs__c":"C4707306; MEDGEN:1640999; MONDO:0018125; ORPHA:352587","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018125","Disease_Description__c":"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.","GARD_Name__c":"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation","GARD_Synonym__c":"focal epilepsy-intellectual disability-dysarthria-ataxia syndrome; focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome; focal epilepsy, intellectual disability, dysarthria, ataxia syndrome","Curated_Disease_Description_Source__c":"MONDO:0018125","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:352587","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018125","ORPHANET_ID__c":"ORPHA:352587","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia focal-discapacidad intelectual-malformación cerebro-cerebelosa","Spanish_Description_Source__c":"ORPHA:352587","Spanish_Description__c":"La epilepsia focal-discapacidad intelectual-malformación cerebro-cerebelosa es un trastorno neurológico genético poco frecuente, caracterizado por un inicio en la infancia temprana de crisis, discapacidad intelectual de leve a moderada y alteraciones cerebelosas que incluyen disartria y ataxia, con hallazgo en la resonancia de atrofia del cerebelo y engrosamiento cortical. Las crisis suelen ser focales (con parpadeo ocular prominente, espasmos faciales y de extremidades), precipitadas por fiebre y, a menudo, van precedidas de un aura sensitiva oral (sensación de lengua anestesiada). Si no se controla adecuadamente con fármacos antiepilépticos, presenta una frecuencia semanal de crisis y persistencia en la vida adulta.","Spanish_Disease_Name__c":"epilepsia focal-discapacidad intelectual-malformación cerebro-cerebelosa","Spanish_GARD_Synonym__c":"síndrome de epilepsia focal-discapacidad intelectual-disartria-ataxia","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0018125","GARD_Synonym__c":"focal epilepsy-intellectual disability-dysarthria-ataxia syndrome; focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome; focal epilepsy, intellectual disability, dysarthria, ataxia syndrome","Name":"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Epilepsy Foundation","Website__c":"https://www.epilepsy.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:352587"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK274566","Source__c":"Gene Review","Xref__c":"NBK274566"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1640999","Source__c":"C4707306","Xref__c":"MEDGEN:1640999"},{"URL__c":"https://www.orpha.net/en/disease/detail/352587","Source__c":"C4707306; MONDO:0018125; ORPHA:352587","Xref__c":"ORPHA:352587"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707306","Source__c":"C4707306","Xref__c":"C4707306"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018125","Source__c":"GARD:0021522","Xref__c":"MONDO:0018125"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765089003","Source__c":"C4707306","Xref__c":"765089003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TBC1D24","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tbc1d24","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["focal epilepsy-intellectual disability-dysarthria-ataxia syndrome"," focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome"," focal epilepsy, intellectual disability, dysarthria, ataxia syndrome"]}