{"orpha":171714,"name":"Amish infantile epilepsy syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GM3 synthase deficiency","url":"https://raremap.alftech.space/d/ORPHA-171714/","orphanet_url":"https://www.orpha.net/en/disease/detail/171714","names":{"fr":{"name":"Syndrome d'épilepsie infantile type Amish","synonyms":["Syndrome d'épilepsie infantile symptomatique-arrêt de développement-cécité"]},"de":{"name":"Epilepsie-Syndrom, infantiles, Amish-Typ","synonyms":["Infantiles Epilepsie-Syndrom mit Entwicklungsstillstand und Blindheit"]},"es":{"name":"Síndrome epiléptico infantil de los Amish","synonyms":["Síndrome de síndrome epilético sintomático de inicio en la lactancia-estancamiento del desarrollo-ceguera"]},"it":{"name":"Sindrome dell'epilessia infantile degli Amish","synonyms":["Sindrome epilettica sintomatica a esordio infantile - arresto dello sviluppo - cecità"]},"nl":{"name":"Amish infantiel epilepsiesyndroom","synonyms":["Symptomatisch epilepsiesyndroom met aanvang in de zuigelingentijd - ontwikkelingsstilstand - blindheid-syndroom"]},"pt":{"name":"Síndrome de epilepsia da infância Amish"},"pl":{"name":"Zespół niemowlęcej padaczki Amiszów","synonyms":["Zespół padaczki o początku w wieku niemowlęcym, zatrzymania rozwoju i ślepoty"]},"cs":{"name":"Infantilní epileptický syndrom Amišů","synonyms":["Syndrom zahrnující infantilní symptomatickou epilepsii, stagnaci vývoje a slepotu"]},"uk":{"name":"Синдром епілепсії раннього дитячого віку амішів","synonyms":["Інфантильний синдром симптоматичної епілепсії - стагнації розвитку - сліпоти"]},"zh":{"name":"Amish婴儿期癫痫综合征","synonyms":["婴幼儿起病症状性癫痫综合征-发育停滞-失明综合征"]},"tr":{"name":"Amish infantil epilepsi sendromu","synonyms":["İnfantil başlangıçlı semptomatik epilepsi sendromu gelişimsel durgunluk-körlük sendromu"]}},"xrefs":[{"source":"UMLS","code":"C1836824","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":370933,"name":"GM3 synthase deficiency"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}