{"Name":"Complex neurodevelopmental disorder","DiseaseID__c":"GARD:0017965","id":17965,"encodedName":"complex-neurodevelopmental-disorder","IsDeleted":false,"Disease_Name_Full__c":"Complex neurodevelopmental disorder","Xref_IDs__c":"C5568766; MEDGEN:1800189; MONDO:0100038","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0100038","Disease_Description__c":"A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy).","GARD_Name__c":"Complex neurodevelopmental disorder","GARD_Synonym__c":"non-specific syndromic intellectual disability","Curated_Disease_Description_Source__c":"ORPHA:528084","Curated_Disease_Description__c":"A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:528084","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100038","ORPHANET_ID__c":"ORPHA:528084","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"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 genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.","Curated_Disease_Description_Source__c":"ORPHA:528084","GARD_Synonym__c":"non-specific syndromic intellectual disability","Name":"Complex neurodevelopmental disorder","estimateUsa":""}],"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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5568766","Source__c":"C5568766","Xref__c":"C5568766"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1800189","Source__c":"C5568766","Xref__c":"MEDGEN:1800189"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100038","Source__c":"GARD:0017965","Xref__c":"MONDO:0100038"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187038009","Source__c":"C5568766","Xref__c":"1187038009"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities"]},"synonyms":["non-specific syndromic intellectual disability"]}