{"Name":"4p16.3 microduplication syndrome","DiseaseID__c":"GARD:0019306","id":19306,"encodedName":"4p163-microduplication-syndrome","IsDeleted":false,"Disease_Name_Full__c":"4p16.3 microduplication syndrome","Xref_IDs__c":"726706008; C4512053; MEDGEN:1387521; MONDO:0019873; ORPHA:96072","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019873","Disease_Description__c":"4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.","GARD_Name__c":"4p16.3 microduplication syndrome","GARD_Synonym__c":"distal duplication 4p; distal trisomy 4p; telomeric duplication 4p; trisomy 4pter","Curated_Disease_Description_Source__c":"MONDO:0019873","Curated_Disease_Description__c":"4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:96072","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019873","ORPHANET_ID__c":"ORPHA:96072","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microduplicación 4p16.3","Spanish_Description_Source__c":"ORPHA:96072","Spanish_Description__c":"El síndrome de microduplicación 4p16.3 es un síndrome genético poco frecuente que resulta de la duplicación parcial del brazo corto del cromosoma 4. Presenta un fenotipo altamente variable, caracterizado principalmente por retraso psicomotor y del lenguaje, convulsiones y rasgos dismórficos tales como frente alta con protuberancia frontal, hipertelorismo, entrecejo prominente, fisuras palpebrales largas y estrechas, orejas de implantación baja y cuello corto. Asimismo se han descrito anomalías oculares (glaucoma, pigmentación irregular del iris, hiperopía).","Spanish_Disease_Name__c":"síndrome de microduplicación 4p16.3","Spanish_GARD_Synonym__c":"trisomía 4pter; trisomía terminal 4p","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":"4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0019873","GARD_Synonym__c":"distal duplication 4p; distal trisomy 4p; telomeric duplication 4p; trisomy 4pter","Name":"4p16.3 microduplication syndrome","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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Infancy","Provided_By__c":"ORPHA:96072"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96072"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/96072","Source__c":"C4512053; MONDO:0019873; ORPHA:96072","Xref__c":"ORPHA:96072"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4512053","Source__c":"C4512053","Xref__c":"C4512053"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726706008","Source__c":"C4512053; MONDO:0019873","Xref__c":"726706008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1387521","Source__c":"C4512053","Xref__c":"MEDGEN:1387521"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019873","Source__c":"GARD:0019306","Xref__c":"MONDO:0019873"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Endocrine","Pediatrics"]},"synonyms":["distal duplication 4p"," distal trisomy 4p"," telomeric duplication 4p"," trisomy 4pter"]}