{"Name":"Distal 17p13.3 microdeletion syndrome","DiseaseID__c":"GARD:0020776","id":20776,"encodedName":"distal-17p133-microdeletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Distal 17p13.3 microdeletion syndrome","Xref_IDs__c":"764696007; C4707092; MEDGEN:1643975; MONDO:0016839; ORPHA:261257","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0016839","Disease_Description__c":"Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.","GARD_Name__c":"Distal 17p13.3 microdeletion syndrome","GARD_Synonym__c":"distal del(17)(p13.3 ); distal del(17)(p13.3); distal monosomy 17p13.3","Curated_Disease_Description_Source__c":"MONDO:0016839","Curated_Disease_Description__c":"Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:261257","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016839","ORPHANET_ID__c":"ORPHA:261257","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microdeleción terminal 17p13.3","Spanish_Description_Source__c":"ORPHA:261257","Spanish_Description__c":"El síndrome de microdeleción 17p13.3 distal es una monosomía parcial, poco frecuente, del brazo corto del cromosoma 17 con un fenotipo variable caracterizado por retraso del crecimiento prenatal y postnatal, retraso del desarrollo, discapacidad intelectual leve, macrocefalia, dismorfia facial leve que incluye frente prominente, hipertelorismo, bermellón del labio superior y/o inferior grueso, y anomalías estructurales del cerebro que incluyen, de forma variable, anomalías de la sustancia blanca, espacios de Virchow-Robin prominentes, malformación de Chiari I e hipoplasia del cuerpo calloso, pero sin lisencefalia.","Spanish_Disease_Name__c":"síndrome de microdeleción terminal 17p13.3","Spanish_GARD_Synonym__c":"del(17)(p13.3) terminal; monosomía terminal 17p13.3","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":"Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.","Curated_Disease_Description_Source__c":"MONDO:0016839","GARD_Synonym__c":"distal del(17)(p13.3 ); distal del(17)(p13.3); distal monosomy 17p13.3","Name":"Distal 17p13.3 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":"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:261257"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:261257"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:261257"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707092","Source__c":"C4707092","Xref__c":"C4707092"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1643975","Source__c":"C4707092","Xref__c":"MEDGEN:1643975"},{"URL__c":"https://www.orpha.net/en/disease/detail/261257","Source__c":"C4707092; MONDO:0016839; ORPHA:261257","Xref__c":"ORPHA:261257"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764696007","Source__c":"C4707092; MONDO:0016839","Xref__c":"764696007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016839","Source__c":"GARD:0020776","Xref__c":"MONDO:0016839"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal del(17)(p13.3 )"," distal del(17)(p13.3)"," distal monosomy 17p13.3"]}