{"Name":"2p21 microdeletion syndrome without cystinuria","DiseaseID__c":"GARD:0021581","id":21581,"encodedName":"2p21-microdeletion-syndrome-without-cystinuria","IsDeleted":false,"Disease_Name_Full__c":"2p21 microdeletion syndrome without cystinuria","Xref_IDs__c":"770754006; C4749458; MEDGEN:1666351; MONDO:0018245; ORPHA:369881","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018245","Disease_Description__c":"2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.","GARD_Name__c":"2p21 microdeletion syndrome without cystinuria","GARD_Synonym__c":"del(2)(p21) without cystinuria","Curated_Disease_Description_Source__c":"MONDO:0018245","Curated_Disease_Description__c":"2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.","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:369881","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018245","ORPHANET_ID__c":"ORPHA:369881","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microdeleción 2p21 sin cistinuria","Spanish_Description_Source__c":"ORPHA:369881","Spanish_Description__c":"El síndrome de microdeleción 2p21 sin cistinuria, es una anomalia cromosómica poco frecuente caracterizada por disminución de los movimientos fetales, hipotonía tras el nacimiento y dificultades en la alimentación que mejoran espontáneamente con el tiempo, anomalías urogenitales (hipospadias o labios mayores hipoplásicos), retraso global del desarrollo, leve discapacidad intelectual y dismorfia facial (dolicocefalia, frente prominente, ptosis bilateral, retrusión mediofacial, boca abierta con bermellón labial superior arqueado). Los afectados tienen niveles elevados de lactato sérico, pero no presentan cistinuria.","Spanish_Disease_Name__c":"síndrome de microdeleción 2p21 sin cistinuria","Spanish_GARD_Synonym__c":"del(2)(p21) sin cistinuria","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":"2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.","Curated_Disease_Description_Source__c":"MONDO:0018245","GARD_Synonym__c":"del(2)(p21) without cystinuria","Name":"2p21 microdeletion syndrome without cystinuria","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:369881"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:369881"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1666351","Source__c":"C4749458","Xref__c":"MEDGEN:1666351"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749458","Source__c":"C4749458","Xref__c":"C4749458"},{"URL__c":"https://www.orpha.net/en/disease/detail/369881","Source__c":"C4749458; MONDO:0018245; ORPHA:369881","Xref__c":"ORPHA:369881"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018245","Source__c":"GARD:0021581","Xref__c":"MONDO:0018245"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770754006","Source__c":"C4749458","Xref__c":"770754006"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["del(2)(p21) without cystinuria"]}