{"Name":"SATB2 associated disorder","DiseaseID__c":"GARD:0022326","id":22326,"encodedName":"satb2-associated-disorder","IsDeleted":false,"Disease_Name_Full__c":"SATB2 associated disorder","Xref_IDs__c":"CN294806; MEDGEN:977265; MONDO:0100147; ORPHA:576278","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0100147","Disease_Description__c":"A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies.","GARD_Name__c":"SATB2 associated disorder","GARD_Synonym__c":"sas; satb2-associated syndrome","Curated_Disease_Description_Source__c":"ORPHA:576278","Curated_Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:576278","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0100147","ORPHANET_ID__c":"ORPHA:576278","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome asociado a satb2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome asociado a satb2","Spanish_GARD_Synonym__c":"sas","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 genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe developmental delay/intellectual disability with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), and craniofacial anomalies such as long face, high and prominent forehead, bulbous nose with low-hanging columella, thin vermillion of the upper lip, palatal (cleft palate, high-arched palate, and bifid uvula) and dental (abnormal upper incisors) abnormalities, and micrognathia. Hypotonia and feeding difficulties are frequent. Other supportive findings may include skeletal anomalies with low bone density and abnormal brain imaging.","Curated_Disease_Description_Source__c":"ORPHA:576278","GARD_Synonym__c":"sas; satb2-associated syndrome","Name":"SATB2 associated disorder","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SATB2 Gene Foundation","Website__c":"https://satb2gene.org/"},{"Account_Name__c":"SATB2 Connect","Website__c":"https://satb2.org.au/"}],"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":"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":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"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:576278"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:576278"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/576278","Source__c":"CN294806; MONDO:0100147","Xref__c":"ORPHA:576278"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN294806","Source__c":"CN294806","Xref__c":"CN294806"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100147","Source__c":"GARD:0022326","Xref__c":"MONDO:0100147"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=977265","Source__c":"CN294806","Xref__c":"MEDGEN:977265"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK458647","Source__c":"Gene Review","Xref__c":"NBK458647"},{"URL__c":"https://medlineplus.gov/genetics/condition/satb2-associated-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SATB2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/satb2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Otolaryngology","Odontology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["sas"," satb2-associated syndrome"]}