{"Name":"Lissencephaly with cerebellar hypoplasia type A","DiseaseID__c":"GARD:0019731","id":19731,"encodedName":"lissencephaly-with-cerebellar-hypoplasia-type-a","IsDeleted":false,"Disease_Name_Full__c":"Lissencephaly with cerebellar hypoplasia type A","Xref_IDs__c":"785307003; C5191423; MEDGEN:1679234; MONDO:0015034; ORPHA:100011","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:0015034","Disease_Description__c":"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.","GARD_Name__c":"Lissencephaly with cerebellar hypoplasia type A","GARD_Synonym__c":"lissencephaly co-occurrent with congenital cerebellar hypoplasia type a","Curated_Disease_Description_Source__c":"MONDO:0015034","Curated_Disease_Description__c":"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.","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:100011","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015034","ORPHANET_ID__c":"ORPHA:100011","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lisencefalia con hipoplasia cerebelosa tipo a","Spanish_Description_Source__c":"ORPHA:100011","Spanish_Description__c":"Es un subtipo de hipoplasia cerebelosa con lisencefalia, de origen genético y poco frecuente, caracterizado por lisencefalia clásica con engrosamiento de la sustancia gris cortical (sin gradiente discernible o bien con un gradiente de predominio posterior o anterior), asociado a hipoplasia cerebelosa variable, predominantemente de línea media.","Spanish_Disease_Name__c":"lisencefalia con hipoplasia cerebelosa tipo a","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 classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.","Curated_Disease_Description_Source__c":"MONDO:0015034","GARD_Synonym__c":"lissencephaly co-occurrent with congenital cerebellar hypoplasia type a","Name":"Lissencephaly with cerebellar hypoplasia type A","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":"Antenatal","Provided_By__c":"ORPHA:100011"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:100011"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1679234","Source__c":"C5191423","Xref__c":"MEDGEN:1679234"},{"URL__c":"https://www.orpha.net/en/disease/detail/100011","Source__c":"C5191423; MONDO:0015034; ORPHA:100011","Xref__c":"ORPHA:100011"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5191423","Source__c":"C5191423","Xref__c":"C5191423"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=785307003","Source__c":"C5191423","Xref__c":"785307003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015034","Source__c":"GARD:0019731","Xref__c":"MONDO:0015034"}],"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 a"]}