{"Name":"2p13.2 microdeletion syndrome","DiseaseID__c":"GARD:0021557","id":21557,"encodedName":"2p132-microdeletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"2p13.2 microdeletion syndrome","Xref_IDs__c":"770756008; C4749460; MEDGEN:1662313; MONDO:0018207; ORPHA:363680","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018207","Disease_Description__c":"A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.","GARD_Name__c":"2p13.2 microdeletion syndrome","GARD_Synonym__c":"del(2)(p13.2)","Curated_Disease_Description_Source__c":"MONDO:0018207","Curated_Disease_Description__c":"A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:363680","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018207","ORPHANET_ID__c":"ORPHA:363680","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microdeleción 2p13.2","Spanish_Description_Source__c":"ORPHA:363680","Spanish_Description__c":"Es una alteración cromosómica poco frecuente, caracterizada por retraso global del desarrollo, discapacidad intelectual, anomalías de la conducta (hiperactividad, déficit de atención y conducta autista), braquicefalia y dismorfia facial variable. Otros hallazgos asociados pueden incluir fusiones vertebrales y contracturas leves de rodillas y codos, así como dificultades en la alimentación durante la lactancia.","Spanish_Disease_Name__c":"síndrome de microdeleción 2p13.2","Spanish_GARD_Synonym__c":"del(2)(p13.2)","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 partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.","Curated_Disease_Description_Source__c":"MONDO:0018207","GARD_Synonym__c":"del(2)(p13.2)","Name":"2p13.2 microdeletion syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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:363680"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:363680"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1662313","Source__c":"C4749460","Xref__c":"MEDGEN:1662313"},{"URL__c":"https://www.orpha.net/en/disease/detail/363680","Source__c":"C4749460; MONDO:0018207; ORPHA:363680","Xref__c":"ORPHA:363680"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749460","Source__c":"C4749460","Xref__c":"C4749460"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770756008","Source__c":"C4749460","Xref__c":"770756008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018207","Source__c":"GARD:0021557","Xref__c":"MONDO:0018207"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["del(2)(p13.2)"]}