{"Name":"Blepharophimosis - intellectual disability syndrome","DiseaseID__c":"GARD:0010892","id":10892,"encodedName":"blepharophimosis-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Blepharophimosis - intellectual disability syndrome","Xref_IDs__c":"C5229849; MEDGEN:1698793; MONDO:0017393; ORPHA:293642","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"GARD:0010892","Disease_Description__c":"Blepharophimosis intellectual disability syndromes refers to a group of syndromes, including Ohdo syndrome and Say Barber Biesecker Young-Simpson syndrome, that are characterized by narrow eye openings (blepharophimosis), drooping of the upper eye lids (ptosis) and intellectual disability. Dr. Ohdo published an article in 1986 describing the first three cases of this syndrome (in a brother, sister, and cousin). Since that time many other case reports describing people with similar (yet variable) features have been reported. The syndromes usually occur sporadically. In most cases the underlying cause can not be determined.","GARD_Name__c":"Blepharophimosis - intellectual disability syndrome","GARD_Synonym__c":"blepharophimosis-intellectual disability syndrome; blepharophimosis, intellectual disability syndrome; bmrs","Curated_Disease_Description_Source__c":"GARD:0010892","Curated_Disease_Description__c":"A rare group of syndromic intellectual disabilities characterized by global developmental delay (DD)/intellectual disability (ID), blepharophimosis and other craniofacial dysmorphisms, and organ anomalies.","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:293642","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017393","ORPHANET_ID__c":"ORPHA:293642","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de blefarofimosis-discapacidad intelectual","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de blefarofimosis-discapacidad intelectual","Spanish_GARD_Synonym__c":null,"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":"A rare group of syndromic intellectual disabilities characterized by global developmental delay (DD)/intellectual disability (ID), blepharophimosis and other craniofacial dysmorphisms, and organ anomalies.","Curated_Disease_Description_Source__c":"GARD:0010892","GARD_Synonym__c":"blepharophimosis-intellectual disability syndrome; blepharophimosis, intellectual disability syndrome; bmrs","Name":"Blepharophimosis - intellectual disability syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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:293642"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:293642"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5229849","Source__c":"C5229849","Xref__c":"C5229849"},{"URL__c":"https://www.orpha.net/en/disease/detail/293642","Source__c":"C5229849; MONDO:0017393; ORPHA:293642","Xref__c":"ORPHA:293642"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1698793","Source__c":"C5229849","Xref__c":"MEDGEN:1698793"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=788584007","Source__c":"C5229849","Xref__c":"788584007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017393","Source__c":"GARD:0010892","Xref__c":"MONDO:0017393"}],"Inheritance__c":["Mitochondrial inheritance","X-linked recessive","Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["blepharophimosis-intellectual disability syndrome"," blepharophimosis, intellectual disability syndrome"," bmrs"]}