{"Name":"Lissencephaly type 3-familial fetal akinesia sequence syndrome","DiseaseID__c":"GARD:0019067","id":19067,"encodedName":"lissencephaly-type-3-familial-fetal-akinesia-sequence-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Lissencephaly type 3-familial fetal akinesia sequence syndrome","Xref_IDs__c":"718719001; C4305255; MEDGEN:930924; MONDO:0019449; ORPHA:86821","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019449","Disease_Description__c":"Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia (see these terms).","GARD_Name__c":"Lissencephaly type 3-familial fetal akinesia sequence syndrome","GARD_Synonym__c":"lissencephaly type 3 familial fetal akinesia sequence syndrome","Curated_Disease_Description_Source__c":"ORPHA:86821","Curated_Disease_Description__c":"Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:86821","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019449","ORPHANET_ID__c":"ORPHA:86821","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de lisencefalia tipo 3-secuencia de aquinesia fetal familiar","Spanish_Description_Source__c":"ORPHA:86821","Spanish_Description__c":"Es un síndrome caracterizado por la asociación de microencefalia, agenesia del cuerpo calloso, hipoplasia del tronco cerebral, cerebelo quístico y secuencia de acinesia fetal. Hasta la fecha se han descrito menos de 10 casos. El síndrome se transmite como un rasgo autosómico recesivo y podría ser una variante alélica del síndrome de Neu-Laxova y lisencefalia tipo III con displasia del hueso metacarpiano.","Spanish_Disease_Name__c":"síndrome de lisencefalia tipo 3-secuencia de aquinesia fetal familiar","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":"Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia.","Curated_Disease_Description_Source__c":"ORPHA:86821","GARD_Synonym__c":"lissencephaly type 3 familial fetal akinesia sequence syndrome","Name":"Lissencephaly type 3-familial fetal akinesia sequence syndrome","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":"Antenatal","Provided_By__c":"ORPHA:86821"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930924","Source__c":"C4305255","Xref__c":"MEDGEN:930924"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718719001","Source__c":"C4305255; MONDO:0019449","Xref__c":"718719001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4305255","Source__c":"C4305255","Xref__c":"C4305255"},{"URL__c":"https://www.orpha.net/en/disease/detail/86821","Source__c":"C4305255; MONDO:0019449; ORPHA:86821","Xref__c":"ORPHA:86821"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019449","Source__c":"GARD:0019067","Xref__c":"MONDO:0019449"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["lissencephaly type 3 familial fetal akinesia sequence syndrome"]}