{"Name":"12q15q21.1 microdeletion syndrome","DiseaseID__c":"GARD:0021141","id":21141,"encodedName":"12q15q211-microdeletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"12q15q21.1 microdeletion syndrome","Xref_IDs__c":"734030009; C4518344; MEDGEN:1383455; MONDO:0017334; ORPHA:289513","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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017334","Disease_Description__c":"12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.","GARD_Name__c":"12q15q21.1 microdeletion syndrome","GARD_Synonym__c":"del(12)(q15)(q21.1); deletion 12q15q21.1; monosomy 12q15q21.1","Curated_Disease_Description_Source__c":"MONDO:0017334","Curated_Disease_Description__c":"12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.","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:289513","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017334","ORPHANET_ID__c":"ORPHA:289513","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microdeleción 12q15q21","Spanish_Description_Source__c":"ORPHA:289513","Spanish_Description__c":"El síndrome de microdelección 12q15q21.1 es un síndrome raro debido a anomalías cromosómicas resultante de una deleción parcial del brazo largo del cromosoma 12, con un fenotipo altamente variable y típicamente caracterizado por retraso del desarrollo, dificultades de aprendizaje, retraso del crecimiento intrauterino y postnatal y rasgos dismórficos faciales leves que cambian con la edad. El habla nasal y el hipotiroidismo también están asociados.","Spanish_Disease_Name__c":"síndrome de microdeleción 12q15q21","Spanish_GARD_Synonym__c":"del(12)(q15)(q21); deleción 12q15q21; monosomía 12q15q21","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":"12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated.","Curated_Disease_Description_Source__c":"MONDO:0017334","GARD_Synonym__c":"del(12)(q15)(q21.1); deletion 12q15q21.1; monosomy 12q15q21.1","Name":"12q15q21.1 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":"Infancy","Provided_By__c":"ORPHA:289513"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:289513"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/289513","Source__c":"C4518344; MONDO:0017334; ORPHA:289513","Xref__c":"ORPHA:289513"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=734030009","Source__c":"C4518344; MONDO:0017334","Xref__c":"734030009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4518344","Source__c":"C4518344","Xref__c":"C4518344"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1383455","Source__c":"C4518344","Xref__c":"MEDGEN:1383455"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017334","Source__c":"GARD:0021141","Xref__c":"MONDO:0017334"}],"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(12)(q15)(q21.1)"," deletion 12q15q21.1"," monosomy 12q15q21.1"]}