{"Name":"SIN3A-related intellectual disability syndrome","DiseaseID__c":"GARD:0022043","id":22043,"encodedName":"sin3a-related-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"SIN3A-related intellectual disability syndrome","Xref_IDs__c":"CN258628; MEDGEN:941664; MONDO:0044699; ORPHA:500163","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:500163","Disease_Description__c":"A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.","GARD_Name__c":"SIN3A-related intellectual disability syndrome","GARD_Synonym__c":"witkos; witteveen-kolk syndrome","Curated_Disease_Description_Source__c":"ORPHA:500163","Curated_Disease_Description__c":"A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:500163","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0044699","ORPHANET_ID__c":"ORPHA:500163","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de witteveen-kolk","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de witteveen-kolk","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 rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities.","Curated_Disease_Description_Source__c":"ORPHA:500163","GARD_Synonym__c":"witkos; witteveen-kolk syndrome","Name":"SIN3A-related intellectual disability syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.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":"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:500163"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:500163"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/500163","Source__c":"CN258628; MONDO:0044699","Xref__c":"ORPHA:500163"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0044699","Source__c":"GARD:0022043","Xref__c":"MONDO:0044699"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=941664","Source__c":"CN258628","Xref__c":"MEDGEN:941664"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN258628","Source__c":"CN258628","Xref__c":"CN258628"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SIN3A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["witkos"," witteveen-kolk syndrome"]}