{"orpha":284408,"name":"OBSOLETE: Glycerol kinase deficiency, infantile form","type":"Clinical subtype","group":"Subtype of disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":[],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Xp21 deletion syndrome","url":"https://raremap.alftech.space/d/ORPHA-284408/","orphanet_url":"https://www.orpha.net/en/disease/detail/284408","names":{"fr":{"name":"OBSOLETE : Déficit en glycérol kinase, forme infantile"},"de":{"name":"OBSOLET: Glycerol-Kinase-Mangel, infantiler"},"es":{"name":"OBSOLETO: Deficiencia de glicerol quinasa, forma infantil"},"it":{"name":"OBSOLETO: Deficit di glicerolo chinasi, forma infantile"},"nl":{"name":"OBSOLEET: Deficiëntie van glycerolkinase, infantiele vorm"},"pt":{"name":"OBSOLETO: Deficiência de glicerol cinase, forma da infância"},"pl":{"name":"NIEAKTUALNE: Niedobór kinazy glicerolu, postać niemowlęca"},"cs":{"name":"NEAKTUÁLNÍ: Deficit glycerolkinázy, infantilní forma"},"uk":{"name":"ЗАСТАРІЛО: Дефіцит гліцеролкінази, інфантильна форма"},"zh":{"name":"婴儿型甘油激酶缺乏症","definition":"婴儿型甘油激酶缺乏症（GKD）是一种严重的GKD（见本术语），临床表现为喂养困难、生长发育不良、失盐性脱水、呕吐、阿狄森氏色素沉着、肌张力低下和意识障碍。部分患复杂性GKD的患者，伴有先天性肾上腺发育不全和/或杜氏肌营养不良（DMD）（见这些术语），表现为智力缺陷、面部畸形、外生殖器异常、斜视、惊厥发作和进行性嗜睡。"},"tr":{"name":"Gliserol kinaz eksikliği, infantil form"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":261476,"name":"Xp21 deletion syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}