{"orpha":664430,"name":"Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SLC4A10-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664430/","orphanet_url":"https://www.orpha.net/en/disease/detail/664430","names":{"fr":{"name":"Syndrome de trouble neurologique du développement-collapsus des ventricules latéraux-déficience intellectuelle","synonyms":["Trouble neurologique du développement lié à SLC4A10"]},"de":{"name":"Neurologische Entwicklungsstörung-schlitzförmige laterale Hirnventrikel-Intelligenzminderung-Syndrom","synonyms":["SLC4A10-assoziierte neurologische Entwicklungsstörung"]},"es":{"name":"Síndrome de trastorno del neurodesarrollo-ventrículos laterales en hendidura-discapacidad intelectual","synonyms":["Trastorno del neurodesarrollo asociado al gen SLC4A10"]},"it":{"name":"Malattia del neurosviluppo-fissurazione dei ventricoli laterali-disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a SLC4A10"]},"nl":{"name":"Neurologische ontwikkelingsstoornis - spleetvormige laterale ventrikels - intellectuele achterstand-syndroom","synonyms":["SLC4A10-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Síndrome de doença do neurodesenvolvimento-ventrículos laterais em forma de fenda-perturbação do desenvolvimento intelectual","synonyms":["Doença do neurodesenvolvimento SLC4A10-relacionada"]},"pl":{"name":"Zespół zaburzeń neurorozwojowych, szczelinowatych komór bocznych i niepełnosprawności intelektualnej","synonyms":["SLC4A10-related neurodevelopmental disorder"]},"cs":{"name":"Syndrom zahrnující neurovývojovou poruchu, štěrbinovité postranní komory a intelektovou nedostatečnost","synonyms":["SLC4A10-related neurodevelopmental disorder"]},"uk":{"name":"Синдром порушення нейророзвитку-щілиноподібних бічних шлуночків-інтелектуальної недостатності","synonyms":["Повязане з SLC4A10 порушення нейророзвитку"]}},"xrefs":[{"source":"OMIM","code":"620746","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958278","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958278","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925058","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"SLC4A10","name":"solute carrier family 4 member 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37459438[PMID]","hgnc":"13811","ensembl":"ENSG00000144290","omim":"605556","loci":["2q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}