{"orpha":715623,"name":"Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Morimoto-Ryu-Malicdan neuromuscular syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-715623/","orphanet_url":"https://www.orpha.net/en/disease/detail/715623","names":{"fr":{"name":"Syndrome de trouble de la coordination-myopathie-insuffisance respiratoire-atrophie cérébelleuse progressive","synonyms":["Syndrome neuromusculaire Morimoto-Ruy-Malicdan"]},"de":{"name":"Motorische Inkoordination-Myopathie-Ateminsuffizienz-Progressive Kleinhirnatrophie-Syndrom","synonyms":["MRMNS","Morimoto-Ryu-Malicdan neuromuskuläres Syndrom"]},"es":{"name":"Síndrome de incoordinación motora-miopatía-insuficiencia respiratoria- atrofia cerebelosa progresiva","synonyms":["Síndrome neuromuscular de Morimoto-Ryu-Malicdan"]},"it":{"name":"Sindrome mancata coordinazione motoria-miopatia-insufficienza respiratoria-atrofia cerebellare progressiva","synonyms":["Sindrome neuromuscolare di Morimoto-Ryu-Malicdan"]},"nl":{"name":"Motorische incoördinatie - myopathie - respiratoire insufficiëntie - progressieve cerebellaire atrofie-syndroom","synonyms":["Neuromusculair syndroom van Morimoto-Ryu-Malicdan"]},"pt":{"name":"Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome"},"pl":{"name":"Zespół z zaburzeniami koordynacji ruchowej, miopatią, niewydolnością oddechową i postępującym zanikiem móżdżku","synonyms":["Morimoto-Ryu-Malicdan neuromuscular syndrome"]},"cs":{"name":"Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome","synonyms":["Morimoto-Ryu-Malicdan neuromuscular syndrome"]}},"xrefs":[{"source":"OMIM","code":"621010","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98099,"name":"Autosomal recessive syndromic cerebellar ataxia","classifications":[156,181]},{"orpha":207028,"name":"Cerebellar ataxia with peripheral neuropathy","classifications":[156,181]},{"orpha":206656,"name":"Non-dystrophic myopathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"RFC4","name":"replication factor C subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"39106866[PMID]","hgnc":"9972","ensembl":"ENSG00000163918","omim":"102577","loci":["3q27.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"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}