{"orpha":699718,"name":"Infantile CLN1 disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Infantile neuronal ceroid lipofuscinosis type 1"],"definition":null,"note":"This disease is described under CLN1 disease","url":"https://raremap.alftech.space/d/ORPHA-699718/","orphanet_url":"https://www.orpha.net/en/disease/detail/699718","names":{"fr":{"name":"Maladie CLN1 infantile","synonyms":["Céroïde lipofuscinose neuronale infantile type 1"]},"de":{"name":"CLN1-Krankheit, infantile","synonyms":["Infantile neuronale Ceroid-Lipofuszinose Typ 1"]},"es":{"name":"Enfermedad CLN1 infantil","synonyms":["Lipofuscinosis ceroidea neuronal infantil tipo 1"]},"it":{"name":"Malattia CLN1 infantile","synonyms":["Ceroidolipofuscinosi neuronale infantile tipo 1"]},"nl":{"name":"Infantiele CLN1-ziekte","synonyms":["Infantiele neuronale ceroïdlipofuscinose type 1"]},"pt":{"name":"Infantile CLN1 disease"},"pl":{"name":"Infantile CLN1 disease","synonyms":["Infantile neuronal ceroid lipofuscinosis type 1"]},"cs":{"name":"Infantile CLN1 disease","synonyms":["Infantile neuronal ceroid lipofuscinosis type 1"]}},"xrefs":[{"source":"OMIM","code":"256730","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":228329,"name":"CLN1 disease","classifications":[150,156,181,189]}],"children":[],"genes":[{"symbol":"PPT1","name":"palmitoyl-protein thioesterase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32412666[PMID]_34733232[PMID]_7637805[PMID]","hgnc":"9325","ensembl":"ENSG00000131238","omim":"600722","loci":["1p34.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}