{"Name":"Mosaic trisomy 4","DiseaseID__c":"GARD:0019300","id":19300,"encodedName":"mosaic-trisomy-4","IsDeleted":false,"Disease_Name_Full__c":"Mosaic trisomy 4","Xref_IDs__c":"764628000; C4272018; MEDGEN:1637768; MONDO:0019865; ORPHA:96059","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019865","Disease_Description__c":"Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.","GARD_Name__c":"Mosaic trisomy 4","GARD_Synonym__c":"mosaic trisomy 4 syndrome; mosaic trisomy chromosome 4; mosaic trisomy type 4; trisomy 4 mosaicism","Curated_Disease_Description_Source__c":"MONDO:0019865","Curated_Disease_Description__c":"Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:96059","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019865","ORPHANET_ID__c":"ORPHA:96059","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de trisomía 4 en mosaico","Spanish_Description_Source__c":"ORPHA:96059","Spanish_Description__c":"La trisomía 4 en mosaico es una anomalía autosómica poco frecuente, debida a la presencia de una copia adicional del cromosoma 4 en una fracción de las células, con un fenotipo variable caracterizado por retraso del crecimiento intrauterino, bajo peso/talla/perímetro craneal al nacer, déficit intelectual leve, defectos cardíacos congénitos, cardiomiopatía hipertrófica, características dismórficas (asimetría facial, anomalías de las cejas, orejas displásicas, de baja implantación y rotadas hacia atrás, micro/retrognatia), anomalías características del pulgar (aplasia, hipoplasia) y anomalías cutáneas (hipo/hiperpigmentación). Puede estar asociada con pubertad tardía.","Spanish_Disease_Name__c":"síndrome de trisomía 4 en mosaico","Spanish_GARD_Synonym__c":"trisomía del cromosoma 4 en mosaico","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":"Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.","Curated_Disease_Description_Source__c":"MONDO:0019865","GARD_Synonym__c":"mosaic trisomy 4 syndrome; mosaic trisomy chromosome 4; mosaic trisomy type 4; trisomy 4 mosaicism","Name":"Mosaic trisomy 4","estimateUsa":""}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96059"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96059"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4272018","Source__c":"C4272018","Xref__c":"C4272018"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764628000","Source__c":"C4272018; MONDO:0019865","Xref__c":"764628000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1637768","Source__c":"C4272018","Xref__c":"MEDGEN:1637768"},{"URL__c":"https://www.orpha.net/en/disease/detail/96059","Source__c":"C4272018; MONDO:0019865; ORPHA:96059","Xref__c":"ORPHA:96059"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019865","Source__c":"GARD:0019300","Xref__c":"MONDO:0019865"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["mosaic trisomy 4 syndrome"," mosaic trisomy chromosome 4"," mosaic trisomy type 4"," trisomy 4 mosaicism"]}