{"orpha":447893,"name":"Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under 4H leukodystrophy","url":"https://raremap.alftech.space/d/ORPHA-447893/","orphanet_url":"https://www.orpha.net/en/disease/detail/447893","names":{"fr":{"name":"Syndrome d'hypomyélinisation cérébrale diffuse-atrophie du cervelet-hypoplasie du corps calleux"},"de":{"name":"Hypomyelinisierung-zerebelläre Atrophie-Corpus callosum-Hypoplasie-Syndrom"},"es":{"name":"Síndrome de hipomielinización-atrofia cerebelosa-hipoplasia del cuerpo calloso"},"it":{"name":"Sindrome ipomielinizzazione-atrofia cerebellare-ipoplasia del corpo calloso"},"nl":{"name":"Hypomyelinisatie - cerebellaire atrofie - hypoplasie van corpus callosum-syndroom"},"pt":{"name":"Síndrome de hipomielinização-atrofia cerebelosa-hipoplasia do corpo caloso"},"pl":{"name":"Zespół hipomielinizacji, atrofii móżdżku i hipoplazji ciała modzelowatego"},"cs":{"name":"Syndrom zahrnující hypomyelinizaci, mozečkovou atrofii a hypoplázii corpus callosum"},"uk":{"name":"Синдром гіпомієлінізації-атрофії мозочка-гіпоплазії мозолистого тіла"},"zh":{"name":"胼胝体小脑发育不良伴髓鞘化落后"},"tr":{"name":"Korpus kallozum sendromunun hipomiyelinizasyon-serebellar atrofi-hipoplazi"}},"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":"0018655","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681201","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]},{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"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":"22036171[PMID]","hgnc":"30074","ensembl":"ENSG00000148606","omim":"614258","loci":["10q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"18851904[PMID]_22036171[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18851904[PMID]_22036171[PMID]"}],"phenotypes":null}