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To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-371071/","orphanet_url":"https://www.orpha.net/en/disease/detail/371071","names":{"fr":{"name":"Anomalie congénitale de la glycosylation avec épilepsie comme manifestation majeure","synonyms":["CDG avec épilepsie comme manifestation majeure"]},"de":{"name":"Kongenitale Glykosylierungsstörung mit Epilepsie als Hauptmerkmal","synonyms":["CDG mit Epilepsie als Hauptmerkmal"]},"es":{"name":"Trastorno congénito de la glicosilación con epilepsia como característica principal","synonyms":["CDG con epilepsia como característica principal"]},"it":{"name":"Disturbo congenito della glicosilazione come segno cardinale","synonyms":["CDG con epilessia come segno cardinale"]},"nl":{"name":"Congenitale glycosylatiestoornis met epilepsie als hoofdkenmerk","synonyms":["CDG met epilepsie als hoofdkenmerk"]},"pt":{"name":"Doença congénita de glicosilação com epilepsia como característica principal"},"pl":{"name":"Wrodzone zaburzenie glikozylacji z padaczką jako objawem głównym","synonyms":["CDG z padaczką jako objawem głównym"]},"cs":{"name":"Vrozená porucha glykosylace s epilepsií jako hlavním příznakem","synonyms":["CDG s epilepsií jako hlavním příznakem"]},"uk":{"name":"Вроджене порушення глікозилювання з епілепсією як основною ознакою","synonyms":["CDG з епілепсією як головною особливістю"]},"zh":{"name":"以癫痫为主要特征的先天性糖基化障碍","synonyms":["以癫痫为主要特征的CDG"]},"tr":{"name":"Esas klinik özelliği epilepsi olan doğumsal glikozilasyon bozukluğu","synonyms":["Esas klinik özelliği epilepsi olan CDG"]}},"xrefs":[{"source":"MONDO","code":"18287","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679904","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371047,"name":"Congenital disorder of glycosylation with neurological involvement","classifications":[156,181]},{"orpha":166481,"name":"Metabolic diseases with epilepsy","classifications":[156,181]}],"children":[{"orpha":79327,"name":"ALG1-CDG","type":"Disease"},{"orpha":280071,"name":"ALG11-CDG","type":"Disease"},{"orpha":324422,"name":"ALG13-CDG","type":"Disease"},{"orpha":79326,"name":"ALG2-CDG","type":"Disease"},{"orpha":79321,"name":"ALG3-CDG","type":"Disease"},{"orpha":79320,"name":"ALG6-CDG","type":"Disease"},{"orpha":79328,"name":"ALG9-CDG","type":"Disease"},{"orpha":370943,"name":"Autism spectrum disorder-epilepsy-arthrogryposis syndrome","type":"Disease"},{"orpha":357058,"name":"Autosomal recessive cutis laxa type 2A","type":"Disease"},{"orpha":3474,"name":"CHIME syndrome","type":"Malformation syndrome"},{"orpha":263501,"name":"COG4-CDG","type":"Disease"},{"orpha":79333,"name":"COG7-CDG","type":"Disease"},{"orpha":95428,"name":"COG8-CDG","type":"Disease"},{"orpha":329178,"name":"Congenital muscular dystrophy with intellectual disability and severe epilepsy","type":"Disease"},{"orpha":272,"name":"Congenital muscular dystrophy, Fukuyama type","type":"Malformation syndrome"},{"orpha":86309,"name":"DPAGT1-CDG","type":"Disease"},{"orpha":79322,"name":"DPM1-CDG","type":"Disease"},{"orpha":488635,"name":"Early-onset epilepsy-intellectual disability-brain anomalies syndrome","type":"Disease"},{"orpha":370933,"name":"GM3 synthase deficiency","type":"Disease"},{"orpha":83639,"name":"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","type":"Disease"},{"orpha":99843,"name":"Leukocyte adhesion deficiency type II","type":"Clinical subtype"},{"orpha":79330,"name":"MOGS-CDG","type":"Disease"},{"orpha":79323,"name":"MPDU1-CDG","type":"Disease"},{"orpha":280633,"name":"Multiple congenital anomalies-hypotonia-seizures syndrome","type":"Malformation syndrome"},{"orpha":300496,"name":"Multiple congenital anomalies-hypotonia-seizures syndrome type 2","type":"Malformation syndrome"},{"orpha":588,"name":"Muscle-eye-brain disease","type":"Malformation syndrome"},{"orpha":79318,"name":"PMM2-CDG","type":"Disease"},{"orpha":244310,"name":"RFT1-CDG","type":"Disease"},{"orpha":238459,"name":"SLC35A1-CDG","type":"Disease"},{"orpha":356961,"name":"SLC35A2-CDG","type":"Disease"},{"orpha":370927,"name":"SSR4-CDG","type":"Disease"},{"orpha":370921,"name":"STT3A-CDG","type":"Disease"},{"orpha":370924,"name":"STT3B-CDG","type":"Disease"},{"orpha":466926,"name":"Seizures-scoliosis-macrocephaly syndrome","type":"Disease"},{"orpha":899,"name":"Walker-Warburg syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}