{"Name":"Lissencephaly with cerebellar hypoplasia type D","DiseaseID__c":"GARD:0019734","id":19734,"encodedName":"lissencephaly-with-cerebellar-hypoplasia-type-d","IsDeleted":false,"Disease_Name_Full__c":"Lissencephaly with cerebellar hypoplasia type D","Xref_IDs__c":"715821000; C4274991; MEDGEN:895252; MONDO:0015037; ORPHA:100014","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015037","Disease_Description__c":"A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (≤ -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.","GARD_Name__c":"Lissencephaly with cerebellar hypoplasia type D","GARD_Synonym__c":"lissencephaly co-occurrent with congenital cerebellar hypoplasia type d","Curated_Disease_Description_Source__c":"ORPHA:100014","Curated_Disease_Description__c":"A form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly, intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.","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:100014","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015037","ORPHANET_ID__c":"ORPHA:100014","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lisencefalia con hipoplasia cerebelosa tipo d","Spanish_Description_Source__c":"ORPHA:100014","Spanish_Description__c":"Es una forma de lisencefalia con hipoplasia cerebelosa caracterizada por una marcada microcefalia (≤ -3 SD), discapacidad intelectual, diplejía espástica e hipoplasia cerebelosa de moderada a grave afectando tanto al vermis como a los hemisferios.","Spanish_Disease_Name__c":"lisencefalia con hipoplasia cerebelosa tipo d","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 pronounced microcephaly, intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.","Curated_Disease_Description_Source__c":"ORPHA:100014","GARD_Synonym__c":"lissencephaly co-occurrent with congenital cerebellar hypoplasia type d","Name":"Lissencephaly with cerebellar hypoplasia type D","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:100014"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:100014"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=895252","Source__c":"C4274991","Xref__c":"MEDGEN:895252"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274991","Source__c":"C4274991","Xref__c":"C4274991"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715821000","Source__c":"C4274991; MONDO:0015037","Xref__c":"715821000"},{"URL__c":"https://www.orpha.net/en/disease/detail/100014","Source__c":"C4274991; MONDO:0015037; ORPHA:100014","Xref__c":"ORPHA:100014"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015037","Source__c":"GARD:0019734","Xref__c":"MONDO:0015037"}],"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 d"]}