{"Name":"Lissencephaly with cerebellar hypoplasia type C","DiseaseID__c":"GARD:0019733","id":19733,"encodedName":"lissencephaly-with-cerebellar-hypoplasia-type-c","IsDeleted":false,"Disease_Name_Full__c":"Lissencephaly with cerebellar hypoplasia type C","Xref_IDs__c":"715820004; C4274992; MEDGEN:900624; MONDO:0015036; ORPHA:100013","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015036","Disease_Description__c":"A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.","GARD_Name__c":"Lissencephaly with cerebellar hypoplasia type C","GARD_Synonym__c":"lissencephaly co-occurrent with congenital cerebellar hypoplasia type c","Curated_Disease_Description_Source__c":"MONDO:0015036","Curated_Disease_Description__c":"A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:100013","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015036","ORPHANET_ID__c":"ORPHA:100013","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lisencefalia con hipoplasia cerebelosa tipo c","Spanish_Description_Source__c":"ORPHA:100013","Spanish_Description__c":"Es una forma grave de lisencefalia caracterizada por microcefalia grave, paladar hendido y grave hipoplasia cerebelosa y del tronco encefálico que resulta en muerte neonatal.","Spanish_Disease_Name__c":"lisencefalia con hipoplasia cerebelosa tipo c","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 severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.","Curated_Disease_Description_Source__c":"MONDO:0015036","GARD_Synonym__c":"lissencephaly co-occurrent with congenital cerebellar hypoplasia type c","Name":"Lissencephaly with cerebellar hypoplasia type C","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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:100013"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/100013","Source__c":"C4274992; MONDO:0015036; ORPHA:100013","Xref__c":"ORPHA:100013"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=900624","Source__c":"C4274992","Xref__c":"MEDGEN:900624"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274992","Source__c":"C4274992","Xref__c":"C4274992"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715820004","Source__c":"C4274992; MONDO:0015036","Xref__c":"715820004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015036","Source__c":"GARD:0019733","Xref__c":"MONDO:0015036"}],"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 c"]}