{"Name":"3q27.3 microdeletion syndrome","DiseaseID__c":"GARD:0021633","id":21633,"encodedName":"3q273-microdeletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"3q27.3 microdeletion syndrome","Xref_IDs__c":"C4749427; MEDGEN:1651953; MONDO:0018341","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":1,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0018341","Disease_Description__c":"3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.","GARD_Name__c":"3q27.3 microdeletion syndrome","GARD_Synonym__c":"del(3)(q27.3)","Curated_Disease_Description_Source__c":"MONDO:0018341","Curated_Disease_Description__c":"A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:397695","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018341","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":"ORPHA:397695","Spanish_Description__c":"Es un síndrome de anomalía cromosómica poco frecuente resultante de la deleción parcial del brazo largo del cromosoma 3. Está caracterizado por discapacidad intelectual de leve a grave, trastornos neuropsiquiátricos del espectro psicótico y distímico, leve dismorfia facial característica (que incluye cara delgada, ojos hundidos, puente nasal alto con nariz aguileña, orejas pequeñas de baja implantación, surco nasolabial corto, boca pequeña con labio superior delgado, prognatismo) y hábito marfanoide.","Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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 chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.","Curated_Disease_Description_Source__c":"MONDO:0018341","GARD_Synonym__c":"del(3)(q27.3)","Name":"3q27.3 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":"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/C4749427","Source__c":"C4749427","Xref__c":"C4749427"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1651953","Source__c":"C4749427","Xref__c":"MEDGEN:1651953"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018341","Source__c":"GARD:0021633","Xref__c":"MONDO:0018341"}],"tags":{"Specialist":["Neurodevelopmental disabilities"]},"synonyms":["del(3)(q27.3)"]}