{"Name":"Distal monosomy 14q","DiseaseID__c":"GARD:0019329","id":19329,"encodedName":"distal-monosomy-14q","IsDeleted":false,"Disease_Name_Full__c":"Distal monosomy 14q","Xref_IDs__c":"C4749276; MEDGEN:1656422; MONDO:0019898; ORPHA:96150","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":1,"Description_Source__c":"MONDO:0019898","Disease_Description__c":"Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.","GARD_Name__c":"Distal monosomy 14q","GARD_Synonym__c":"distal deletion 14q; distal monosomy 14q syndrome; distal monosomy type 14q; telomeric deletion 14q","Curated_Disease_Description_Source__c":"MONDO:0019898","Curated_Disease_Description__c":"Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:96150","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019898","ORPHANET_ID__c":"ORPHA:96150","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de deleción terminal 14q","Spanish_Description_Source__c":"ORPHA:96150","Spanish_Description__c":"Es una anomalía cromosómica poco frecuente asociada a diversas características fenotípicas dependiendo del tamaño de la deleción. Los hallazgos clínicos pueden incluir retraso global del desarrollo, hipotonía, defectos cardíacos congénitos, características dismórficas (frente alta, fisuras palpebrales pequeñas, epicanto, blefarofimosis, puente nasal ancho y plano, surco nasolabial ancho, labio superior delgado, paladar ojival, barbilla puntiaguda, orejas malformadas). También se ha descrito llanto débil y agudo, convulsiones y diversas anomalías dentales y oftalmológicas.","Spanish_Disease_Name__c":"síndrome de deleción terminal 14q","Spanish_GARD_Synonym__c":"monosomía terminal 14q","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 monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported.","Curated_Disease_Description_Source__c":"MONDO:0019898","GARD_Synonym__c":"distal deletion 14q; distal monosomy 14q syndrome; distal monosomy type 14q; telomeric deletion 14q","Name":"Distal monosomy 14q","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:96150"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/96150","Source__c":"C4749276; MONDO:0019898; ORPHA:96150","Xref__c":"ORPHA:96150"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1656422","Source__c":"C4749276","Xref__c":"MEDGEN:1656422"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749276","Source__c":"C4749276","Xref__c":"C4749276"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770410004","Source__c":"C4749276","Xref__c":"770410004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019898","Source__c":"GARD:0019329","Xref__c":"MONDO:0019898"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal deletion 14q"," distal monosomy 14q syndrome"," distal monosomy type 14q"," telomeric deletion 14q"]}