{"Name":"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance","DiseaseID__c":"GARD:0022416","id":22416,"encodedName":"nrxn1-related-severe-neurodevelopmental-disorder-motor-stereotypies-chronic-constipation-sleep-wake-cycle-disturbance","IsDeleted":false,"Disease_Name_Full__c":"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance","Xref_IDs__c":"C5681528; MEDGEN:1842499; MONDO:0035774; ORPHA:600663","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":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:0035774","Disease_Description__c":"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.","GARD_Name__c":"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance","GARD_Synonym__c":"neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance; nrxn1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance; nrxn1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance","Curated_Disease_Description_Source__c":"MONDO:0035774","Curated_Disease_Description__c":"A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:600663","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0035774","ORPHANET_ID__c":"ORPHA:600663","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno del neurodesarrollo grave-estereotipias motoras-estreñimiento crónico-alteración del ciclo sueño-vigilia asociado al gen nrxn1","Spanish_Description_Source__c":"ORPHA:600663","Spanish_Description__c":"Es un trastorno genético poco frecuente del neurodesarrollo caracterizado por retraso global del desarrollo, discapacidad intelectual grave y ausencia de lenguaje expresivo. Son comunes la hipotonía muscular, las crisis, el comportamiento autista y los movimientos estereotipados.","Spanish_Disease_Name__c":"trastorno del neurodesarrollo grave-estereotipias motoras-estreñimiento crónico-alteración del ciclo sueño-vigilia asociado al gen nrxn1","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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, neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability and absence of expressive language. Muscular hypotonia, seizures, autistic behavior and stereotypic movements are common.","Curated_Disease_Description_Source__c":"MONDO:0035774","GARD_Synonym__c":"neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance; nrxn1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance; nrxn1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance","Name":"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic cons","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Project Sleep","Website__c":"https://project-sleep.com/"},{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.org/"}],"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":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Sleep medicine","Tag_Category__c":"Specialist","curated_tag_name":"Sleep medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:600663"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/600663","Source__c":"C5681528; MONDO:0035774; ORPHA:600663","Xref__c":"ORPHA:600663"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681528","Source__c":"C5681528","Xref__c":"C5681528"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1842499","Source__c":"C5681528","Xref__c":"MEDGEN:1842499"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1300131002","Source__c":"C5681528","Xref__c":"1300131002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0035774","Source__c":"GARD:0022416","Xref__c":"MONDO:0035774"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NRXN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Neurodevelopmental disabilities","Sleep medicine","Pediatrics"]},"synonyms":["neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance"," nrxn1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance"," nrxn1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance"]}