{"orpha":611247,"name":"Pontocerebellar hypoplasia type 11","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["PCH11","Pontocerebellar hypoplasia due to TBC1D23"],"definition":"A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-611247/","orphanet_url":"https://www.orpha.net/en/disease/detail/611247","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 11","synonyms":["HPC11","PCH11"],"definition":"Forme d'hypoplasie pontocérébelleuse caractérisée par une microcéphalie, un retard de développement global sévère et une déficience intellectuelle, une dysmorphie faciale, un syndrome cérébelleux et une hypoplasie pontocérébelleuse à l'imagerie cérébrale. Des troubles du comportement sont fréquemment observés. Parmi les autres manifestations rapportées figurent convulsions, anomalies oculaires, infections respiratoires récurrentes et corps calleux fin ou absent."},"de":{"name":"Pontozerebelläre Hypoplasie Typ 11","synonyms":["PCH11","Pontozerebelläre Hypoplasie durch TBC1D23-Genmutation"],"definition":"Eine Form der pontozerebellären Hypoplasie, die durch Mikrozephalie, schwere globale Entwicklungsverzögerung und Intelligenzminderung, dysmorphe Gesichtsdysmorphien, ein Kleinhirnsyndrom und eine pontozerebelläre Hypoplasie in der Hirnbildgebung gekennzeichnet ist. Verhaltensauffälligkeiten werden häufig beobachtet. Zu den weiteren berichteten Manifestationen gehören unter anderem Krampfanfälle, Augenanomalien, wiederkehrende Atemwegsinfektionen und ein dünnes oder fehlendes Corpus callosum."},"es":{"name":"Hipoplasia pontocerebelosa tipo 11","synonyms":["HPC11","Hipoplasia pontocerebelosa por una mutación en el gen TBC1D23"],"definition":"Es una forma de hipoplasia pontocerebelosa caracterizada por microcefalia, grave retraso global del desarrollo y discapacidad intelectual, rasgos faciales dismórficos, síndrome cerebeloso e hipoplasia pontocerebelosa patente en la neuroimagen. Con frecuencia se observan trastornos de conducta. Otras manifestaciones descritas incluyen crisis epilépticas, anomalías oculares, infecciones respiratorias recurrentes y adelgazamiento o ausencia del cuerpo calloso, entre otras."},"it":{"name":"Ipoplasia pontocerebellare tipo 11","synonyms":["Ipoplasia pontocerebellare correlata a TBC1D23","PCH11"]},"nl":{"name":"Pontocerebellaire hypoplasie type 11","synonyms":["PCH11","Pontocerebellaire hypoplasie door TBC1D23"],"definition":"Een vorm van pontocerebellaire hypoplasie, gekenmerkt door microcefalie, ernstige algehele ontwikkelingsachterstand en intellectuele achterstand, dysmorfe gelaatskenmerken, cerebellair syndroom, en pontocerebellaire hypoplasie bij beeldvorming van hersenen. Gedragsafwijkingen worden vaak waargenomen. Overige manifestaties die werden gerapporteerd, zijn onder meer insulten, ooganomalieën, recidiverende luchtweginfecties, en dun of afwezig corpus callosum."},"pt":{"name":"Hipoplasia pontocerebelosa tipo 11","synonyms":["PCH11","Hipoplasia pontocerebelosa devido a TBC1D23"],"definition":"Forma de hipoplasia pontocerebelosa caracterizada por microcefalia, atraso global do desenvolvimento e perturbação do desenvolvimento intelectual graves, características faciais dismórficas, síndrome cerebeloso e hipoplasia pontocerebelosa na imagem cerebral. São frequentemente observadas alterações comportamentais. Outras manifestações reportadas incluem convulsões, anomalias oculares, infeções respiratórias recorrentes e corpo caloso fino ou ausente, entre outras."},"pl":{"name":"Hipoplazja mostowo-móżdżkowa typu 11","synonyms":["PCH11","Pontocerebellar hypoplasia due to TBC1D23"],"definition":"Postać hipoplazji mostowo-móżdżkowej charakteryzująca się małogłowiem, poważnym globalnym opóźnieniem rozwoju i niepełnosprawnością intelektualną, dysmorficznymi rysami twarzy, zespołem móżdżkowym i hipoplazją mostowo-móżdżkową w badaniach obrazowych mózgu. Często obserwuje się zaburzenia zachowania. Zgłaszano także drgawki, anomalie oczu, nawracające infekcje dróg oddechowych oraz ścieńczenie lub zanik ciała modzelowatego."},"cs":{"name":"Pontocerebelární hypoplázie, typ 11","synonyms":["PCH11","Pontocerebellar hypoplasia due to TBC1D23"]},"uk":{"name":"Гіпоплазія мозочка, тип 11","synonyms":["PCH11","Гіпоплазія мозочка внаслідок TBC1D23"],"definition":"A form of pontocerebellar hypoplasia characterized by microcephaly, severe global developmental delay and intellectual disability, dysmorphic facial features, cerebellar syndrome, and pontocerebellar hypoplasia on brain imaging. Behavioral abnormalities are frequently observed. Other reported manifestations include seizures, ocular anomalies, recurrent respiratory infections, and thin or absent corpus callosum, among others."}},"xrefs":[{"source":"OMIM","code":"617695","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.01","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0054669","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4540164","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98523,"name":"Pontocerebellar hypoplasia","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"28823707[PMID]_28823706[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"28823707[PMID]_28823706[PMID]_ORPHANET"}],"phenotypes":null}