{"Name":"Infantile epileptic dyskinetic encephalopathy","DiseaseID__c":"GARD:0017582","id":17582,"encodedName":"infantile-epileptic-dyskinetic-encephalopathy","IsDeleted":false,"Disease_Name_Full__c":"Infantile epileptic dyskinetic encephalopathy","Xref_IDs__c":"771223000; C4552072; C567924; MEDGEN:1637882; MONDO:0018226; ORPHA:364063","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018226","Disease_Description__c":"A rare monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.","GARD_Name__c":"Infantile epileptic dyskinetic encephalopathy","GARD_Synonym__c":"infantile epileptic-dyskinetic encephalopathy","Curated_Disease_Description_Source__c":"ORPHA:364063","Curated_Disease_Description__c":"A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:364063","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018226","ORPHANET_ID__c":"ORPHA:364063","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Encefalopatía epiléptica-discinética infantil","Spanish_Description_Source__c":"ORPHA:364063","Spanish_Description__c":"Es una enfermedad monogénica con epilepsia poco frecuente caracterizada por retraso del desarrollo y espasmos infantiles en los primeros meses de vida, seguido de corea y distonia generalizada, que progresa a discinesia cuadripléjica, estatus distónico recurrente, epilepsia focal farmacorresistente y discapacidad intelectual grave.","Spanish_Disease_Name__c":"encefalopatía epiléptica-discinética infantil","Spanish_GARD_Synonym__c":null,"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":"A monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability.","Curated_Disease_Description_Source__c":"ORPHA:364063","GARD_Synonym__c":"infantile epileptic-dyskinetic encephalopathy","Name":"Infantile epileptic dyskinetic encephalopathy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"},{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.org/"}],"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":"Dystonia","Tag_Category__c":"Account","curated_tag_name":"Dystonia"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:364063"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:364063"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567924","Source__c":"MONDO:0018226","Xref__c":"C567924"},{"URL__c":"https://www.orpha.net/en/disease/detail/364063","Source__c":"C4552072; MONDO:0018226; ORPHA:364063","Xref__c":"ORPHA:364063"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1637882","Source__c":"C4552072","Xref__c":"MEDGEN:1637882"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4552072","Source__c":"C4552072","Xref__c":"C4552072"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018226","Source__c":"GARD:0017582","Xref__c":"MONDO:0018226"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771223000","Source__c":"C4552072","Xref__c":"771223000"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ARX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/arx","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Dystonia","Epilepsy"]},"synonyms":["infantile epileptic-dyskinetic encephalopathy"]}