{"Name":"Lissencephaly with cerebellar hypoplasia type E","DiseaseID__c":"GARD:0019735","id":19735,"encodedName":"lissencephaly-with-cerebellar-hypoplasia-type-e","IsDeleted":false,"Disease_Name_Full__c":"Lissencephaly with cerebellar hypoplasia type E","Xref_IDs__c":"785306007; C5191422; MEDGEN:1676990; MONDO:0015038; ORPHA:100015","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015038","Disease_Description__c":"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.","GARD_Name__c":"Lissencephaly with cerebellar hypoplasia type E","GARD_Synonym__c":"lissencephaly co-occurrent with congenital cerebellar hypoplasia type e","Curated_Disease_Description_Source__c":"MONDO:0015038","Curated_Disease_Description__c":"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:100015","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015038","ORPHANET_ID__c":"ORPHA:100015","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lisencefalia con hipoplasia cerebelosa tipo e","Spanish_Description_Source__c":"ORPHA:100015","Spanish_Description__c":"Es un subtipo de lisencefalia con hipoplasia cerebelosa, de origen genético y poco frecuente, caracterizada por la presencia de lisencefalia con una transición abrupta, localizada cerca del límite entre la corteza frontal y parietal, que varía desde la agiria frontal hasta la simplificación del patrón giral posterior, asociada a hipoplasia cerebelosa con afectación predominante del vermis en la línea media.","Spanish_Disease_Name__c":"lisencefalia con hipoplasia cerebelosa tipo e","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:93890","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 rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.","Curated_Disease_Description_Source__c":"MONDO:0015038","GARD_Synonym__c":"lissencephaly co-occurrent with congenital cerebellar hypoplasia type e","Name":"Lissencephaly with cerebellar hypoplasia type E","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Child Neurology Foundation","Website__c":"https://www.childneurologyfoundation.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":"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":"Neonatal","Provided_By__c":"ORPHA:100015"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:100015"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/100015","Source__c":"C5191422; MONDO:0015038; ORPHA:100015","Xref__c":"ORPHA:100015"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191422","Source__c":"C5191422","Xref__c":"C5191422"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1676990","Source__c":"C5191422","Xref__c":"MEDGEN:1676990"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=785306007","Source__c":"C5191422","Xref__c":"785306007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015038","Source__c":"GARD:0019735","Xref__c":"MONDO:0015038"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["lissencephaly co-occurrent with congenital cerebellar hypoplasia type e"]}