{"orpha":137639,"name":"Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Ataxia-delayed dentition-hypomyelination syndrome"],"definition":null,"note":"This disease is described under 4H leukodystrophy","url":"https://raremap.alftech.space/d/ORPHA-137639/","orphanet_url":"https://www.orpha.net/en/disease/detail/137639","names":{"fr":{"name":"Syndrome de leucoencéphalopathie-ataxie-hypodontie-hypomyélinisation","synonyms":["Syndrome d'ataxie-retard de dentition-hypomyélinisation"]},"de":{"name":"Leukoenzephalopathie-Ataxie-Hypodontie-Hypomyelinisierung-Syndrom","synonyms":["Ataxie - verzögerter Zahndurchbruch - Hypomyelinisierung"]},"es":{"name":"Síndrome de leucodistrofia-hipodoncia-ataxia-hipomielinización","synonyms":["Ataxia-retraso en la dentición-hipomielinización"]},"it":{"name":"Sindrome da leucodistrofia ipomielinizzante, atassia, ipodontia e ipomielinizzazione","synonyms":["Atassia - ritardo della dentizione - ipomielinizzazione"]},"nl":{"name":"Hypomyeliniserende leukodystrofie - ataxie - hypodontie - hypomyelinisatie-syndroom","synonyms":["Ataxie - vertraagde dentitie - hypomyelinisatie-syndroom"]},"pt":{"name":"Síndrome de leucodistrofia hipomielinizante-ataxia-hipodontia-hipomielinização"},"pl":{"name":"Zespół leukoencefalopatii, ataksji, hipodoncji i hipomielinizacji","synonyms":["Ataksja - opóźnione wyrzynanie zębów - hipomielinizacja"]},"cs":{"name":"Syndrom zahrnující leukoencefalopatii, ataxii, hypodoncii a hypomyelinizaci","synonyms":["Syndrom zahrnující ataxii, opožděnou dentici a hypomyelinizaci"]},"uk":{"name":"Синдром гіпомієлінізуючої лейкодистрофії-атаксії-гіподонтії-гіпомієлінізації","synonyms":["Синдром затримки прорізування зубів-гіпомієлінізації з атаксією"]},"zh":{"name":"髓鞘形成不足脑白质营养不良-共济失调-牙发育不良-髓鞘形成不足综合征","synonyms":["共济失调-牙发育不良-髓鞘减少综合征"]},"tr":{"name":"Hipomiyelinizan lökodistrofi-ataksi-hipodonti-hipomiyelinasyon sendromu","synonyms":["Ataksi-gecikmeli dentisyon-hipomiyelinasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"607694","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E75.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011897","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706676","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":289494,"name":"4H leukodystrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"POLR3A","name":"RNA polymerase III subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27506977[PMID]","hgnc":"30074","ensembl":"ENSG00000148606","omim":"614258","loci":["10q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"15851747[PMID]_17712733[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15851747[PMID]_17712733[PMID]"}],"phenotypes":null}