{"orpha":221150,"name":"OBSOLETE: Pitt-Hopkins-like syndrome","type":"Disease","group":"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 CNTNAP2-related developmental and epileptic encephalopathy","url":"https://raremap.alftech.space/d/ORPHA-221150/","orphanet_url":"https://www.orpha.net/en/disease/detail/221150","names":{"fr":{"name":"OBSOLETE : Syndrome Pitt-Hopkins-like"},"de":{"name":"OBSOLET: Pitt-Hopkins-ähnliches Syndrom"},"es":{"name":"OBSOLETO: Síndrome similar a Pitt-Hopkins","synonyms":["OBSOLETO: Síndrome de Pitt-Hopkins-like"]},"it":{"name":"OBSOLETO: Sindrome Pitt-Hopkins-simile"},"nl":{"name":"OBSOLEET: Pitt-Hopkins-achtig syndroom"},"pt":{"name":"OBSOLETO: Síndrome Pitt-Hopkins-like"},"pl":{"name":"NIEAKTUALNE: Zespół podobny do zespołu Pitta i Hopkinsa"},"cs":{"name":"NEAKTUÁLNÍ: Pitt-Hopkins-like syndrom"},"uk":{"name":"ЗАСТАРІЛО: Синдром Пітта-Хопкінса"},"zh":{"name":"皮特-霍普金斯样综合征","definition":"Pitt-Hopkins样综合征是一种罕见的遗传性综合征性智力障碍，其特征是严重的智力障碍、言语障碍、运动发育正常或轻度延迟、发作性呼吸异常、早发性癫痫和面部畸形（仅出现大嘴）。通常与异常的睡眠-觉醒周期，孤独症行为和刻板动作相关。"},"tr":{"name":"Pitt-Hopkins benzeri sendrom"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":163681,"name":"CNTNAP2-related developmental and epileptic encephalopathy"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}