{"orpha":700467,"name":"Late infantile CLN6 disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Late infantile neuronal ceroid lipofuscinosis type 6"],"definition":null,"note":"This disease is described under CLN6 disease","url":"https://raremap.alftech.space/d/ORPHA-700467/","orphanet_url":"https://www.orpha.net/en/disease/detail/700467","names":{"fr":{"name":"Maladie CLN6 infantile tardive","synonyms":["Céroïde lipofuscinose neuronale infantile tardive type 6"]},"de":{"name":"CLN6-Krankheit, spät-infantile","synonyms":["Spät-infantile neuronale Ceroid-Lipofuszinose Typ 6"]},"es":{"name":"Enfermedad CLN6 infantil tardía","synonyms":["Lipofuscinosis ceroidea neuronal infantil tardía tipo 6"]},"it":{"name":"Malattia CLN6 infantile tardiva","synonyms":["Ceroidolipofuscinosi neuronale infantile tardiva tipo 6"]},"nl":{"name":"Laat-infantiele CLN6-ziekte","synonyms":["Laat-infantiele neuronale ceroïdlipofuscinose type 6"]},"pt":{"name":"Late infantile CLN6 disease"},"pl":{"name":"Late infantile CLN6 disease","synonyms":["Late infantile neuronal ceroid lipofuscinosis type 6"]},"cs":{"name":"Late infantile CLN6 disease","synonyms":["Late infantile neuronal ceroid lipofuscinosis type 6"]}},"xrefs":[{"source":"OMIM","code":"601780","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":228363,"name":"CLN6 disease","classifications":[150,156,181,189]}],"children":[],"genes":[{"symbol":"CLN6","name":"CLN6 transmembrane ER protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32412666[PMID]_34733232[PMID]_34684815[PMID]","hgnc":"2077","ensembl":"ENSG00000128973","omim":"606725","loci":["15q23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}