{"Name":"X-linked intellectual disability-macrocephaly-macroorchidism syndrome","DiseaseID__c":"GARD:0019055","id":19055,"encodedName":"x-linked-intellectual-disability-macrocephaly-macroorchidism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked intellectual disability-macrocephaly-macroorchidism syndrome","Xref_IDs__c":"719825000; C4304406; MEDGEN:930075; MONDO:0019419; ORPHA:85320","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019419","Disease_Description__c":"An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.","GARD_Name__c":"X-linked intellectual disability-macrocephaly-macroorchidism syndrome","GARD_Synonym__c":"johnson syndrome; x-linked intellectual disability, macrocephaly, macroorchidism syndrome","Curated_Disease_Description_Source__c":"MONDO:0019419","Curated_Disease_Description__c":"An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.","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:85320","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019419","ORPHANET_ID__c":"ORPHA:85320","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de discapacidad intelectual-macrocefalia-macroorquidia ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:85320","Spanish_Description__c":"Es una discapacidad intelectual sindrómica ligada al cromosoma X caracterizada por discapacidad intelectual, macrocefalia, macroorquidia, cejas y mandíbulas prominentes y anomalías del pabellón auricular. Afecta predominantemente a varones, mientras que algunas mujeres muestran capacidades cognitivas reducidas.","Spanish_Disease_Name__c":"síndrome de discapacidad intelectual-macrocefalia-macroorquidia ligado al cromosoma x","Spanish_GARD_Synonym__c":"síndrome de johnson","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":"An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities.","Curated_Disease_Description_Source__c":"MONDO:0019419","GARD_Synonym__c":"johnson syndrome; x-linked intellectual disability, macrocephaly, macroorchidism syndrome","Name":"X-linked intellectual disability-macrocephaly-macroorchidism 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":"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":"Neonatal","Provided_By__c":"ORPHA:85320"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:85320"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930075","Source__c":"C4304406","Xref__c":"MEDGEN:930075"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719825000","Source__c":"C4304406; MONDO:0019419","Xref__c":"719825000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304406","Source__c":"C4304406","Xref__c":"C4304406"},{"URL__c":"https://www.orpha.net/en/disease/detail/85320","Source__c":"C4304406; MONDO:0019419; ORPHA:85320","Xref__c":"ORPHA:85320"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019419","Source__c":"GARD:0019055","Xref__c":"MONDO:0019419"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85320","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally large testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000053","HPO_Synonym__c":"Large testicles; Large testis","HPO_Name__c":"Macroorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85320","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85320","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["johnson syndrome"," x-linked intellectual disability, macrocephaly, macroorchidism syndrome"]}