{"orpha":2162,"name":"Holoprosencephaly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HPE"],"definition":"A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2162/","orphanet_url":"https://www.orpha.net/en/disease/detail/2162","names":{"fr":{"name":"Holoprosencéphalie","synonyms":["HPE"],"definition":"Malformation cérébrale complexe rare due à un défaut de clivage médian du prosencéphale, concernant le cerveau antérieur et le visage, à l'origine de manifestations neurologiques et d'anomalies faciales de degré variable."},"de":{"name":"Holoprosenzephalie","synonyms":["HPE"],"definition":"Eine seltene komplexe Fehlbildung des Gehirns, die aus einer unvollständigen Teilung des Prosenzephalon resultiert. Betroffen sind sowohl das Vorderhirn mit neurologischen Störungen als auch das Gesicht mit Anomalien unterschiedlicher Schweregrade."},"es":{"name":"Holoprosencefalia","synonyms":["HPE"],"definition":"Es una malformación cerebral compleja poco frecuente caracterizada por la división incompleta del prosencéfalo, que afecta tanto a la porción más anterior del cerebro como a la cara, lo que provoca manifestaciones neurológicas y anomalías faciales de gravedad variable."},"it":{"name":"Oloprosencefalia","synonyms":["HPE"],"definition":"L'oloprosencefalia (HPE) è una malformazione cerebrale complessa, caratterizzata dal clivaggio incompleto del prosencefalo, che interessa sia il prosencefalo che il viso, causando sintomi neurologici e dismorfismi facciali di gravità variabile."},"nl":{"name":"Holoprosencefalie","synonyms":["HPE"],"definition":"Een zeldzame complexe malformatie van hersenen, gekarakteriseerd door onvolledige splitsing van prosencefalon, die zowel voorhersenen als aangezicht treft en resulteert in neurologische manifestaties en faciale anomalieën met variabele gradaties van ernst."},"pt":{"name":"Holoprosencefalia","definition":"A holoprosencefalia (HPE) é uma malformação cerebral complexa resultante da clivagem incompleta do prosencéfalo, entre os dias 18 e 28 de gestação, e que afeta o cérebro anterior e a face, resultando em anomalias neurológicas e faciais de gravidade variável."},"pl":{"name":"Holoprosencefalia","synonyms":["HPE"]},"cs":{"name":"Holoprosencefalie","synonyms":["HPE"]},"uk":{"name":"Голопрозенцефалія","synonyms":["HPE"],"definition":"A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable 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(79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004409","label":"Hyposmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent 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