{"orpha":714399,"name":"Global developmental delay-dental enamel defects-ataxia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CTBP1-related neurodevelopmental disorder"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714399/","orphanet_url":"https://www.orpha.net/en/disease/detail/714399","names":{"fr":{"name":"Syndrome de retard global de développement-défauts de l'émail dentaire-ataxie","synonyms":["Trouble neurodéveloppemental associé à CTBP1"]},"de":{"name":"Globale Entwicklungsverzögerung-Zahnschmelzdefekte-Ataxie-Syndrom","synonyms":["CTBP1-assoziierte neurologische Entwicklungsstörung","HADDTS"]},"es":{"name":"Síndrome de retraso global del desarrollo-defectos del esmalte dental-ataxia","synonyms":["Trastorno del neurodesarrollo asociado a CTBP1"]},"it":{"name":"Sindrome ritardo dello sviluppo globale-difetti dello smalto dei denti-atassia","synonyms":["Malattia del neurosviluppo correlata a CTBP1"]},"nl":{"name":"Algehele ontwikkelingsachterstand - defecten van tandglazuur - ataxie-syndroom","synonyms":["CTBP1-gerelateerde neurologische ontwikkelingsstoornis"]},"pt":{"name":"Global developmental delay-dental enamel defects-ataxia syndrome"},"pl":{"name":"Zespół globalnego opóźnienia rozwoju, wad szkliwa i ataksji","synonyms":["CTBP1-related neurodevelopmental disorder"]},"cs":{"name":"Global developmental delay-dental enamel defects-ataxia syndrome","synonyms":["CTBP1-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"617915","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CTBP1","name":"C-terminal binding protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27094857[PMID]","hgnc":"2494","ensembl":"ENSG00000159692","omim":"602618","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}