{"Name":"Lissencephaly with cerebellar hypoplasia type B","DiseaseID__c":"GARD:0019732","id":19732,"encodedName":"lissencephaly-with-cerebellar-hypoplasia-type-b","IsDeleted":false,"Disease_Name_Full__c":"Lissencephaly with cerebellar hypoplasia type B","Xref_IDs__c":"715819005; C4274993; MEDGEN:906879; MONDO:0015035; ORPHA:100012","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0015035","Disease_Description__c":"A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.","GARD_Name__c":"Lissencephaly with cerebellar hypoplasia type B","GARD_Synonym__c":"lissencephaly co-occurrent with congenital cerebellar hypoplasia type b","Curated_Disease_Description_Source__c":"ORPHA:100012","Curated_Disease_Description__c":"A form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:100012","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015035","ORPHANET_ID__c":"ORPHA:100012","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lisencefalia con hipoplasia cerebelosa tipo b","Spanish_Description_Source__c":"ORPHA:100012","Spanish_Description__c":"Es una forma de lisencefalia con hipoplasia cerebelosa caracterizada por microcefalia leve, hipotonía y retraso del desarrollo neurocognitivo. La malformación del hipocampo es un rasgo característico de este trastorno en los estudios de imagen.","Spanish_Disease_Name__c":"lisencefalia con hipoplasia cerebelosa tipo b","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 form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.","Curated_Disease_Description_Source__c":"ORPHA:100012","GARD_Synonym__c":"lissencephaly co-occurrent with congenital cerebellar hypoplasia type b","Name":"Lissencephaly with cerebellar hypoplasia type B","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":"Infancy","Provided_By__c":"ORPHA:100012"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:100012"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:100012"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/100012","Source__c":"C4274993; MONDO:0015035; ORPHA:100012","Xref__c":"ORPHA:100012"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=906879","Source__c":"C4274993","Xref__c":"MEDGEN:906879"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715819005","Source__c":"C4274993; MONDO:0015035","Xref__c":"715819005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274993","Source__c":"C4274993","Xref__c":"C4274993"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015035","Source__c":"GARD:0019732","Xref__c":"MONDO:0015035"}],"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 b"]}