{"Name":"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome","DiseaseID__c":"GARD:0021707","id":21707,"encodedName":"partial-corpus-callosum-agenesis-cerebellar-vermis-hypoplasia-with-posterior-fossa-cysts-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome","Xref_IDs__c":"C4750913; MEDGEN:1660429; MONDO:0018430; ORPHA:401959","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018430","Disease_Description__c":"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.","GARD_Name__c":"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome","GARD_Synonym__c":"partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome","Curated_Disease_Description_Source__c":"MONDO:0018430","Curated_Disease_Description__c":"A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:401959","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018430","ORPHANET_ID__c":"ORPHA:401959","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de agenesia parcial del cuerpo calloso-hipoplasia del vermis cerebeloso con quistes de la fosa posterior","Spanish_Description_Source__c":"ORPHA:401959","Spanish_Description__c":"El síndrome de agenesia parcial del cuerpo calloso - hipoplasia del vermis cerebeloso con quistes de la fosa posterior, es una malformación cerebral hereditaria y poco frecuente, con síndrome epiléptico, caracterizado por grave retraso global del desarrollo sin capacidad para deambular y ausencia del lenguaje verbal, epilepsia intratable, agenesia parcial del cuerpo calloso e hipoplasia del vermis cerebeloso con quistes de la fosa posterior.","Spanish_Disease_Name__c":"síndrome de agenesia parcial del cuerpo calloso-hipoplasia del vermis cerebeloso con quistes de la fosa posterior","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.","Curated_Disease_Description_Source__c":"MONDO:0018430","GARD_Synonym__c":"partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome","Name":"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fos","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:401959"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/401959","Source__c":"C4750913; MONDO:0018430; ORPHA:401959","Xref__c":"ORPHA:401959"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1660429","Source__c":"C4750913","Xref__c":"MEDGEN:1660429"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4750913","Source__c":"C4750913","Xref__c":"C4750913"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773497001","Source__c":"C4750913","Xref__c":"773497001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018430","Source__c":"GARD:0021707","Xref__c":"MONDO:0018430"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KPNA7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome"]}